Phenotype and Genotype in Rare Disorders: Publications

Publications 2021

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2021)
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain (in press)
DOI 10.1093/brain/awab391, PubMed 34633442

Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI (2021)
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
Cold Spring Harb Mol Case Stud (in press)
DOI 10.1101/mcs.a006113, PubMed 34615670

Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091

Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631

Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA (2021)
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet
DOI 10.1038/s41431-021-00966-y, PubMed 34776508

Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S (2021)
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Rep, 62 (1), 56-69
DOI 10.1002/jmd2.12240, PubMed 34765399

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (2021)
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 2016
DOI 10.1038/s41436-021-01306-7, PubMed 34522029

Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV et al. (2021)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 1922-1932
DOI 10.1038/s41436-021-01232-8, PubMed 34163037

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI et al. (2021)
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Am J Hum Genet, 108 (6), 1053-1068
DOI 10.1016/j.ajhg.2021.04.008, PubMed 33909990

Rustad CF, Tveten K, Prescott TE, Bjerkeseth PO, Bredrup C, Pfeiffer HCV (2021)
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Am J Med Genet A, 185 (8), 2597-2601
DOI 10.1002/ajmg.a.62264, PubMed 33979467

Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK (2021)
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet J Rare Dis, 16 (1), 427
DOI 10.1186/s13023-021-02066-y, PubMed 34641933

Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM (2021)
Correction: More accurate fetal diagnostics
Tidsskr Nor Laegeforen, 141 (16)
DOI 10.4045/tidsskr.21.0728, PubMed 34758600

Sørensen IW, Glad R, Houge G, Blomhoff A, Haug MG, Steen VM (2021)
More accurate fetal diagnostics
Tidsskr Nor Laegeforen, 141 (2021-14)
DOI 10.4045/tidsskr.21.0424, PubMed 34641655

Stang A, McMaster ML, Sesterhenn IA, Rapley E, Huddart R, Heimdal K, McGlynn KA, Oosterhuis JW, Greene MH (2021)
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers (Basel), 13 (7)
DOI 10.3390/cancers13071652, PubMed 33916078

Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J et al. (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Am J Hum Genet, 108 (5), 857-873
DOI 10.1016/j.ajhg.2021.04.001, PubMed 33961779

Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C et al. (2021)
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Hum Genet, 140 (12), 1709-1731
DOI 10.1007/s00439-021-02379-9, PubMed 34652576

Publications 2020

Bahrami S, Steen NE, Shadrin A, O'Connell K, Frei O, Bettella F, Wirgenes KV, Krull F, Fan CC, Dale AM, Smeland OB, Djurovic S, Andreassen OA (2020)
Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study
JAMA Psychiatry, 77 (5), 503-512
DOI 10.1001/jamapsychiatry.2019.4188, PubMed 31913414

Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW et al. (2020)
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
Genet Med, 23 (2), 384-395
DOI 10.1038/s41436-020-00993-y, PubMed 33173220

Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X (2020)
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Hum Mutat, 41 (10), 1738-1744
DOI 10.1002/humu.24075, PubMed 32643838

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U et al. (2020)
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Ann Intern Med, 173 (12), 989-1001
DOI 10.7326/M20-1443, PubMed 32894695

Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, Svenningsson P, Paucar M, Sundblom J, Nyholm D, Widner H, Heiberg A, Frich J, Nielsen J, Hjermind L, Roos R et al. (2020)
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov. Disord., 35 (4), 606-615
DOI 10.1002/mds.27963

Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 342
DOI 10.1186/s13023-020-01636-w, PubMed 33287852

Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 123
DOI 10.1186/s13023-020-01397-6, PubMed 32450891

Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH (2020)
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2020)
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
DOI 10.1038/s41436-020-00944-7, PubMed 32814847

Rana MU, Østhus AA, Heimdal K, Jebsen P, Revheim MR, Osnes TA (2020)
Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment
Acta Otolaryngol, 141 (3), 303-308
DOI 10.1080/00016489.2020.1845397, PubMed 33320715

Smeland OB, Shadrin A, Bahrami S, Broce I, Tesli M, Frei O, Wirgenes KV, O'Connell KS, Krull F, Bettella F, Steen NE, Sugrue L, Wang Y, Svenningsson P, Sharma M, Pihlstrøm L, Toft M, O'Donovan M, Djurovic S, Desikan R, Dale AM, Andreassen OA (2020)
Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
Biol Psychiatry, 89 (3), 227-235
DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043

Sorensen IW, Prescott T, Rustad CF, Blinkenberg EO, von der Lippe C (2020)
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227

Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
BMC Med Genet, 21 (1), 96
DOI 10.1186/s12881-020-01024-y, PubMed 32381069

Tillerås KH, Kjoelaas SH, Dramstad E, Feragen KB, von der Lippe C (2020)
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
J Genet Couns, 29 (6), 1093-1105
DOI 10.1002/jgc4.1245, PubMed 32162754

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889

Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR (2020)
Epidemiology of craniosynostosis in Norway
J Neurosurg Pediatr, 26 (1), 68-75
DOI 10.3171/2020.1.PEDS2051, PubMed 32244202

Werner MCF, Wirgenes KV, Haram M, Bettella F, Lunding SH, Rødevand L, Hjell G, Agartz I, Djurovic S, Melle I, Andreassen OA, Steen NE (2020)
Indicated association between polygenic risk score and treatment-resistance in a naturalistic sample of patients with schizophrenia spectrum disorders
Schizophr Res, 218, 55-62
DOI 10.1016/j.schres.2020.03.006, PubMed 32171635

Publications 2019

Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK (2019)
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
Hemasphere, 3 (6), e321
DOI 10.1097/HS9.0000000000000321, PubMed 31976490

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
Am J Med Genet A, 179 (9), 1884-1894
DOI 10.1002/ajmg.a.61282, PubMed 31313512

Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA (2019)
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
Eur J Hum Genet, 27 (10), 1611-1618
DOI 10.1038/s41431-019-0462-x, PubMed 31278393

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C (2019)
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Am J Hum Genet, 104 (4), 749-757
DOI 10.1016/j.ajhg.2019.02.021, PubMed 30905398

Pope MK, Ratajska A, Johnsen H, Rypdal KB, Sejersted Y, Paus B (2019)
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Genet Test Mol Biomarkers, 23 (11), 783-790
DOI 10.1089/gtmb.2019.0064, PubMed 31638417

Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S (2019)
Intranasal bevacizumab injections improve quality of life in HHT patients
Laryngoscope, 130 (5), E284-E288
DOI 10.1002/lary.28179, PubMed 31287573

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH et al. (2019)
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
J Inherit Metab Dis, 42 (3), 553-564
DOI 10.1002/jimd.12055, PubMed 30746764

Publications 2018

Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
Effect of epilepsy on autism symptoms in Angelman syndrome
Mol Autism, 9, 2
DOI 10.1186/s13229-017-0185-1, PubMed 29340132

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672

Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
Abnormally wide eustachian tubes involving the sphenoid bone: A collection
Laryngoscope Investig Otolaryngol, 3 (3), 214-217
DOI 10.1002/lio2.158, PubMed 30062137

Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
J Genet Couns, 27 (5), 1102-1110
DOI 10.1007/s10897-018-0229-5, PubMed 29429039

Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
Hered Cancer Clin Pract, 16, 3
DOI 10.1186/s13053-017-0085-6, PubMed 29339979

Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E (2018)
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
J Neuroophthalmol, 38 (1), 129-131
DOI 10.1097/WNO.0000000000000598, PubMed 29210930

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805

Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B et al. (2018)
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Am J Med Genet A, 176 (4), 862-876
DOI 10.1002/ajmg.a.38626, PubMed 29460469

Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V (2018)
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
Oncotarget, 9 (69), 33202-33214
DOI 10.18632/oncotarget.26059, PubMed 30237862

Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G (2018)
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Eur J Hum Genet, 26 (7), 960-971
DOI 10.1038/s41431-018-0130-6, PubMed 29681619

Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531

Steineger J, Osnes T, Heimdal K, Dheyauldeen S (2018)
Long-term experience with intranasal bevacizumab therapy
Laryngoscope, 128 (10), 2237-2244
DOI 10.1002/lary.27147, PubMed 29469958

Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, Dheyauldeen S (2018)
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
Laryngoscope, 129 (1), E44-E49
DOI 10.1002/lary.27548, PubMed 30329172

Tonne E (2018)
COLOR ATLAS OF GENETICS
Tidsskr. Nor. Laegeforen., 138 (14), 1368

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genet Med, 21 (3), 663-675
DOI 10.1038/s41436-018-0085-6, PubMed 30158690

Publications 2017

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549

Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
Urology, 104, 70-76
DOI 10.1016/j.urology.2017.02.023, PubMed 28232177

Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M (2017)
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
J Med Genet, 55 (1), 28-38
DOI 10.1136/jmedgenet-2017-104620, PubMed 29021403

Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS (2017)
Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
Gene, 624, 50-55
DOI 10.1016/j.gene.2017.04.030, PubMed 28456592

Johannessen J, Nærland T, Hope S, Torske T, Høyland AL, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen OA (2017)
Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample
Int J Mol Sci, 18 (5)
DOI 10.3390/ijms18051078, PubMed 28524073

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391

Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I (2017)
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Biosci Rep, 37 (2)
DOI 10.1042/BSR20170251, PubMed 28396517

Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177, PubMed 28371307

Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
J Med Case Rep, 11 (1), 226
DOI 10.1186/s13256-017-1402-4, PubMed 28814329

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P (2017)
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Eur J Hum Genet, 25 (8), 946-951
DOI 10.1038/ejhg.2017.86, PubMed 28513610

Publications 2016

Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG (2016)
Expanding the genotypic spectrum of Perrault syndrome
Clin Genet, 91 (2), 302-312
DOI 10.1111/cge.12776, PubMed 26970254

Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
DOI 10.1186/s12957-016-0818-4, PubMed 26940557

Johannessen J, Nærland T, Bloss C, Rietschel M, Strohmaier J, Gjevik E, Heiberg A, Djurovic S, Andreassen OA (2016)
Parents' attitudes toward genetic research in autism spectrum disorder
Psychiatr Genet, 26 (2), 74-80
DOI 10.1097/YPG.0000000000000121, PubMed 26867185

Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433

Publications 2015

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL (2015)
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Am J Med Genet A, 167A (9), 2052-64
DOI 10.1002/ajmg.a.37120, PubMed 26097203

Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (8), e0136011
DOI 10.1371/journal.pone.0136011, PubMed 26270546

McMaster ML, Heimdal KR, Loud JT, Bracci JS, Rosenberg PS, Greene MH (2015)
Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
Cancer Med, 4 (7), 1069-78
DOI 10.1002/cam4.450, PubMed 25882629

Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
Am J Med Genet A, 167A (3), 657-63
DOI 10.1002/ajmg.a.36944, PubMed 25691420

Rustad C, Bjørndalen H, Myhre AG, Heier CA, Horn J, Knaus A, Hvid I, Merckoll E, Tveiterås M, Westvik J (2015)
[Re: Special outpatient clinic for skeletal dysplasias]
Tidsskr Nor Laegeforen, 135 (8), 736
DOI 10.4045/tidsskr.15.0440, PubMed 25947586

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
Eur J Hum Genet, 23 (12), 1652-6
DOI 10.1038/ejhg.2015.30, PubMed 25735484

Publications 2014

Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
Heart, 100 (22), 1793-8
DOI 10.1136/heartjnl-2014-305616, PubMed 25031264

Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
Eur J Med Genet, 57 (9), 513-9
DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659

Geirdal AØ, Lund-Petersen I, Heiberg A (2014)
Understanding the experience of myotonic dystrophy. Mixed method study
J Genet Couns, 24 (1), 169-78
DOI 10.1007/s10897-014-9752-1, PubMed 25123360

Gustavsen MW, Viken MK, Celius EG, Berge T, Mero IL, Berg-Hansen P, Aarseth JH, Myhr KM, Søndergaard HB, Sellebjerg F, Oturai AB, Hillert J, Alfredsson L, Olsson T, Kockum I, Lie BA, Harbo HF (2014)
Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
J Neuroimmunol, 274 (1-2), 174-9
DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176

Heiberg A, Frich J, Røttingen JA (2014)
[A. Heiberg and colleagues reply]
Tidsskr Nor Laegeforen, 134 (8), 809-10
DOI 10.4045/tidsskr.14.0451, PubMed 24780961

Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Orphanet J Rare Dis, 9, 146
DOI 10.1186/s13023-014-0146-0, PubMed 25258038

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014)
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
Am J Med Genet A, 164A (7), 1622-6
DOI 10.1002/ajmg.a.36498, PubMed 24678003

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
Identification of copy number variants from exome sequence data
BMC Genomics, 15, 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989

Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG (2014)
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
Neurology, 84 (2), 141-7
DOI 10.1212/WNL.0000000000001129, PubMed 25480913

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H (2014)
National registries of rare diseases in Europe: an overview of the current situation and experiences
Public Health Genomics, 18 (1), 20-5
DOI 10.1159/000365897, PubMed 25228300

von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å (2014)
Man with macrocephaly, learning disability and multiple basal cell carcinomas
Tidsskr Nor Laegeforen, 134 (11), 1151-4
DOI 10.4045/tidsskr.13.0894, PubMed 24939783

Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (2014)
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Hum Genet, 134 (2), 181-90
DOI 10.1007/s00439-014-1509-2, PubMed 25413698

Publications 2013

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L (2013)
The cardiac phenotype in patients with a CHD7 mutation
Circ Cardiovasc Genet, 6 (3), 248-54
DOI 10.1161/CIRCGENETICS.113.000054, PubMed 23677905

Gamage TH, Misceo D, Fannemel M, Frengen E (2013)
A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
Eur J Med Genet, 56 (7), 361-4
DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928

Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
Am J Med Genet A, 161A (5), 1137-42
DOI 10.1002/ajmg.a.35823, PubMed 23463539

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
Gene, 518 (2), 457-60
DOI 10.1016/j.gene.2013.01.029, PubMed 23370340

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M et al. (2013)
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
Nat Genet, 45 (11), 1353-60
DOI 10.1038/ng.2770, PubMed 24076602

Maehlen MT, Provan SA, de Rooy DP, van der Helm-van Mil AH, Krabben A, Saxne T, Lindqvist E, Semb AG, Uhlig T, van der Heijde D, Mero IL, Olsen IC, Kvien TK, Lie BA (2013)
Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
PLoS One, 8 (4), e60970
DOI 10.1371/journal.pone.0060970, PubMed 23613766

Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013)
Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
PLoS One, 8 (3), e58352
DOI 10.1371/journal.pone.0058352, PubMed 23472185

Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H (2013)
Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome
Eur Arch Otorhinolaryngol, 270 (11), 2879-84
DOI 10.1007/s00405-013-2409-0, PubMed 23455582

Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN (2013)
Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis
Eur J Endocrinol, 170 (1), 1-12
DOI 10.1530/EJE-13-0623, PubMed 24096523

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
Eur J Med Genet, 56 (3), 131-7
DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620

Rolseth V, Krokeide SZ, Kunke D, Neurauter CG, Suganthan R, Sejersted Y, Hildrestrand GA, Bjørås M, Luna L (2013)
Loss of Neil3, the major DNA glycosylase activity for removal of hydantoins in single stranded DNA, reduces cellular proliferation and sensitizes cells to genotoxic stress
Biochim Biophys Acta, 1833 (5), 1157-64
DOI 10.1016/j.bbamcr.2012.12.024, PubMed 23305905

Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (2013)
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Eur J Hum Genet, 22 (4), 517-21
DOI 10.1038/ejhg.2013.191, PubMed 24002164

Publications 2012

Abildgaard U, Heimdal K (2012)
Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review
Eur J Obstet Gynecol Reprod Biol, 166 (2), 117-23
DOI 10.1016/j.ejogrb.2012.09.026, PubMed 23107053

Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U et al. (2012)
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
Hum Mutat, 34 (1), 237-47
DOI 10.1002/humu.22224, PubMed 23033313

Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP (2012)
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
Am J Med Genet A, 158A (11), 2719-25
DOI 10.1002/ajmg.a.35447, PubMed 22821869

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ et al. (2012)
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
Hum Mutat, 34 (1), 111-21
DOI 10.1002/humu.22165, PubMed 22829427

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Eur J Med Genet, 55 (12), 695-9
DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study
Am J Med Genet A, 158A (6), 1269-78
DOI 10.1002/ajmg.a.35309, PubMed 22529055

Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study
Disabil Rehabil, 35 (3), 206-13
DOI 10.3109/09638288.2012.690500, PubMed 22671535

Harbo HF, Mero IL (2012)
From genes to characteristics of multiple sclerosis
Acta Neurol Scand Suppl (195), 76-83
DOI 10.1111/ane.12027, PubMed 23278661

Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjølberg S, Skjeldal OH (2012)
Children with autism spectrum disorders - the importance of medical investigations
Eur J Paediatr Neurol, 17 (1), 68-76
DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514

Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
Gene, 507 (1), 85-91
DOI 10.1016/j.gene.2012.07.021, PubMed 22842548

Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A (2012)
Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
Neuromuscul Disord, 22 (6), 511-21
DOI 10.1016/j.nmd.2012.01.011, PubMed 22475618

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M et al. (2012)
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Nat Genet, 44 (11), 1243-8
DOI 10.1038/ng.2414, PubMed 23001123

Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
Eur J Med Genet, 55 (12), 715-8
DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012

Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG (2012)
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Neurogenetics, 13 (2), 141-5
DOI 10.1007/s10048-012-0319-8, PubMed 22434358

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S et al. (2012)
Update on Kleefstra Syndrome
Mol Syndromol, 2 (3-5), 202-212
DOI 10.1159/000335648, PubMed 22670141

Publications 2011

Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K (2011)
Obstructive sleep apnea in Treacher Collins syndrome
Eur Arch Otorhinolaryngol, 269 (1), 331-7
DOI 10.1007/s00405-011-1649-0, PubMed 21626120

De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F (2011)
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
Clin Genet, 82 (4), 395-403
DOI 10.1111/j.1399-0004.2011.01810.x, PubMed 22091895

Frich JC, Heiberg A (2011)
[Dementia among younger persons and Huntington disease]
Tidsskr Nor Laegeforen, 131 (17), 1639; author reply 1639
DOI 10.4045/tidsskr.11.0791, PubMed 21901032

Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
Am J Med Genet A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662

Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG (2011)
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
Am J Med Genet A, 158A (1), 215-9
DOI 10.1002/ajmg.a.34376, PubMed 22105938

Publications 2010

Aasebø W, Strøm EH, Hovig T, Undset LH, Heiberg A, Jenssen T (2010)
Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation
NDT Plus, 3 (3), 303-305
DOI 10.1093/ndtplus/sfq036, PubMed 28657066

Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Eur J Med Genet, 53 (4), 221-4
DOI 10.1016/j.ejmg.2010.03.010, PubMed 20382277

Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2010)
Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
Clin Genet, 79 (1), 35-43
DOI 10.1111/j.1399-0004.2010.01534.x, PubMed 21143468

Lundin A, Dietrichs E, Haghighi S, Göller ML, Heiberg A, Loutfi G, Widner H, Wiktorin K, Wiklund L, Svenningsson A, Sonesson C, Waters N, Waters S, Tedroff J (2010)
Efficacy and safety of the dopaminergic stabilizer Pridopidine (ACR16) in patients with Huntington's disease
Clin Neuropharmacol, 33 (5), 260-4
DOI 10.1097/WNF.0b013e3181ebb285, PubMed 20616707

Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K (2010)
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
Int J Audiol, 49 (8), 596-605
DOI 10.3109/14992021003743269, PubMed 20553101

von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2010)
15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
Eur J Med Genet, 54 (3), 357-60
DOI 10.1016/j.ejmg.2010.12.008, PubMed 21187176

Publications 2009

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T (2009)
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations
J Cancer Res Clin Oncol, 135 (10), 1463-70
DOI 10.1007/s00432-009-0594-4, PubMed 19444466

Elvsåshagen T, Solyga V, Bakke SJ, Heiberg A, Kerty E (2009)
[Neurofibromatosis type 2 and auditory brainstem implantation]
Tidsskr Nor Laegeforen, 129 (15), 1469-73
DOI 10.4045/tidsskr.08.0151, PubMed 19690597

Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RC, Pilz DT (2009)
Connective tissue involvement in two patients with features of cranioectodermal dysplasia
Am J Med Genet A, 149A (10), 2212-5
DOI 10.1002/ajmg.a.33027, PubMed 19760620

Mai PL, Chen BE, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Bodrogi I, Geczi L, Olah E, Heimdal K, Fosså SD, Nathanson KL, Korde L, Easton DF, Dudakia D, Huddart R, Stratton MR, Bishop DT, Rapley EA, Greene MH (2009)
Younger age-at-diagnosis for familial malignant testicular germ cell tumor
Fam Cancer, 8 (4), 451-6
DOI 10.1007/s10689-009-9264-6, PubMed 19609727

Mai PL, Friedlander M, Tucker K, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Bonaïti-Pellié C, Heidenreich A, Albers P, Bodrogi I, Geczi L, Olah E, Daly PA, Guilford P, Fosså SD, Heimdal K, Liubchenko L, Tjulandin SA, Stoll H, Weber W, Easton DF, Dudakia D et al. (2009)
The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindred
Urol Oncol, 28 (5), 492-9
DOI 10.1016/j.urolonc.2008.10.004, PubMed 19162511

Misceo D, Fannemel M, Barøy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Strømme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-4
DOI 10.1007/s10048-009-0197-x, PubMed 19471976

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC et al. (2009)
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Nat Genet, 41 (7), 829-32
DOI 10.1038/ng.373, PubMed 19525956

Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T, Helseth E (2009)
Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study
Acta Neurol Scand, 122 (2), 124-31
DOI 10.1111/j.1600-0404.2009.01274.x, PubMed 19814753

Viken MK, Blomhoff A, Olsson M, Akselsen HE, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE, Lie BA (2009)
Reproducible association with type 1 diabetes in the extended class I region of the major histocompatibility complex
Genes Immun, 10 (4), 323-33
DOI 10.1038/gene.2009.13, PubMed 19295542

Publications 2008

Heiberg A (2008)
[Huntington's disease]
Tidsskr Nor Laegeforen, 128 (19), 2214-7
PubMed 18846148

Kaasen A, Prescott TE, Heiberg A, Scott H, Haugen G (2008)
Investigations as a prerequisite for genetic counseling after termination of pregnancy based on sonographic detection of serious central nervous system--or skeletal anomalies
Acta Obstet Gynecol Scand, 87 (10), 998-1005
DOI 10.1080/00016340802415630, PubMed 18798055

Lindemann R, Myhre MC, Bakken M, Fugelseth D, Rustad CF, Woldseth B (2008)
[A newborn infant with hyperventilation]
Tidsskr Nor Laegeforen, 128 (13), 1535-6
PubMed 18604903

Linger R, Dudakia D, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Stoppa-Lyonnet D, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Daly PA, Guilford P, Fosså SD, Heimdal K, Tjulandin SA, Liubchenko L et al. (2008)
Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors
Genes Chromosomes Cancer, 47 (3), 247-52
DOI 10.1002/gcc.20526, PubMed 18069663

Malm G, Lund AM, Månsson JE, Heiberg A (2008)
Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
Acta Paediatr, 97 (11), 1577-81
DOI 10.1111/j.1651-2227.2008.00965.x, PubMed 18681890

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E (2008)
A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient
Am J Med Genet A, 146A (24), 3230-3
DOI 10.1002/ajmg.a.32582, PubMed 19012337

Reichelt JG, Møller P, Heimdal K, Dahl AA (2008)
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer
Fam Cancer, 7 (3), 245-54
DOI 10.1007/s10689-008-9182-z, PubMed 18219587

Siem G, Früh A, Leren TP, Heimdal K, Teig E, Harris S (2008)
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance
Ear Hear, 29 (2), 261-9
DOI 10.1097/aud.0b013e3181645393, PubMed 18595190

Skinningsrud B, Husebye ES, Gervin K, Løvås K, Blomhoff A, Wolff AB, Kemp EH, Egeland T, Undlien DE (2008)
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
Eur J Hum Genet, 16 (8), 977-82
DOI 10.1038/ejhg.2008.33, PubMed 18301444

Publications 2007

Grøholt EK, Nordhagen R, Heiberg A (2007)
[Sense of coherence for parents of disabled children]
Tidsskr Nor Laegeforen, 127 (4), 422-6
PubMed 17304268

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R (2007)
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F
Acta Ophthalmol Scand, 85 (3), 287-97
DOI 10.1111/j.1600-0420.2006.00820.x, PubMed 17488458

Holmøy T, Bjørgo K, Roos PM (2007)
Slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation
Eur Neurol, 58 (1), 57-8
DOI 10.1159/000102170, PubMed 17483589

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 551
PubMed 18383593

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 552
PubMed 18383597

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 552
PubMed 18383596

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 551
PubMed 18383595

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 552
PubMed 18383594

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 551
PubMed 18383591

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 550
PubMed 18383590

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 550
PubMed 18383589

Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimdal K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M (2007)
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation
Hum Genet, 122 (5), 550
PubMed 18383588

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE et al. (2007)
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Am J Hum Genet, 81 (4), 713-25
DOI 10.1086/521373, PubMed 17846997

Riise R, Ygge J, Lindman C, Stray-Pedersen A, Bek T, Rødningen OK, Heiberg A (2007)
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study
Acta Ophthalmol Scand, 85 (5), 557-62
DOI 10.1111/j.1600-0420.2007.00890.x, PubMed 17376192

Publications 2006

Crockford GP, Linger R, Hockley S, Dudakia D, Johnson L, Huddart R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Bonaïti-Pellié C, Heidenreich A, Albers P, Olah E, Geczi L, Bodrogi I, Ormiston WJ, Daly PA, Guilford P, Fosså SD et al. (2006)
Genome-wide linkage screen for testicular germ cell tumour susceptibility loci
Hum Mol Genet, 15 (3), 443-51
DOI 10.1093/hmg/ddi459, PubMed 16407372

Geirdal AØ, Maehle L, Heimdal K, Stormorken A, Møller P, Dahl AA (2006)
Quality of life and its relation to cancer-related stress in women of families with hereditary cancer without demonstrated mutation
Qual Life Res, 15 (3), 461-70
DOI 10.1007/s11136-005-3008-3, PubMed 16547785

Kaasen A, Tuveng J, Heiberg A, Scott H, Haugen G (2006)
Correlation between prenatal ultrasound and autopsy findings: A study of second-trimester abortions
Ultrasound Obstet Gynecol, 28 (7), 925-33
DOI 10.1002/uog.3871, PubMed 17121414

Rustad CF, Bjørnslett M, Heimdal KR, Mæhle L, Apold J, Møller P (2006)
Germline PTEN mutations are rare and highly penetrant
Hered Cancer Clin Pract, 4 (4), 177-85
DOI 10.1186/1897-4287-4-4-177, PubMed 20223021

Publications 2005

Axelsson S, Kjaer I, Heiberg A, Bjørnland T, Storhaug K (2005)
Neurocranial morphology and growth in Williams syndrome
Eur J Orthod, 27 (1), 32-47
DOI 10.1093/ejo/cjh065, PubMed 15743861

Cantón I, Akhtar S, Gavalas NG, Gawkrodger DJ, Blomhoff A, Watson PF, Weetman AP, Kemp EH (2005)
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo
Genes Immun, 6 (7), 584-7
DOI 10.1038/sj.gene.6364243, PubMed 16015369

Frost P, Jugessur A, Apold J, Heimdal K, Aloysius T, Eliassen AK, Fauske L, Matre G, Eiken HG (2005)
Complete mutation screening and haplotype characterization of the BRCA1 gene in 61 familial breast cancer patients from Norway
Dis Markers, 21 (1), 29-36
DOI 10.1155/2005/542928, PubMed 15735322

Geirdal AØ, Reichelt JG, Dahl AA, Heimdal K, Maehle L, Stormorken A, Møller P (2005)
Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations
Fam Cancer, 4 (2), 121-6
DOI 10.1007/s10689-004-7995-y, PubMed 15951962

Hope Q, Bullock S, Evans C, Meitz J, Hamel N, Edwards SM, Severi G, Dearnaley D, Jhavar S, Southgate C, Falconer A, Dowe A, Muir K, Houlston RS, Engert JC, Roquis D, Sinnett D, Simard J, Heimdal K, Møller P, Maehle L, Badzioch M, Eeles RA, Easton DF, English DR et al. (2005)
Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer
Cancer Epidemiol Biomarkers Prev, 14 (2), 397-402
DOI 10.1158/1055-9965.EPI-04-0202, PubMed 15734964

Husebye ES, Varhaug JE, Heimdal K (2005)
[Hereditary endocrine tumour diseases]
Tidsskr Nor Laegeforen, 125 (21), 2964-7
PubMed 16276382

Nathanson KL, Kanetsky PA, Hawes R, Vaughn DJ, Letrero R, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Chompret A, Bonaïti-Pellié C, Heidenreich A, Olah E, Geczi L, Bodrogi I, Ormiston WJ, Daly PA, Oosterhuis JW, Gillis AJ, Looijenga LH, Guilford P et al. (2005)
The Y deletion gr/gr and susceptibility to testicular germ cell tumor
Am J Hum Genet, 77 (6), 1034-43
DOI 10.1086/498455, PubMed 16380914

Stormorken AT, Bowitz-Lothe IM, Norèn T, Kure E, Aase S, Wijnen J, Apold J, Heimdal K, Møller P (2005)
Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer
J Clin Oncol, 23 (21), 4705-12
DOI 10.1200/JCO.2005.05.180, PubMed 16034045

Publications 2004

Meling TR, Ørstavik KH, Heiberg A (2004)
[Complex craniofacial synostoses]
Tidsskr Nor Laegeforen, 124 (9), 1230-4
PubMed 15131704

Moger TA, Aalen OO, Heimdal K, Gjessing HK (2004)
Analysis of testicular cancer data using a frailty model with familial dependence
Stat Med, 23 (4), 617-32
DOI 10.1002/sim.1614, PubMed 14755393

Rapley EA, Hockley S, Warren W, Johnson L, Huddart R, Crockford G, Forman D, Leahy MG, Oliver DT, Tucker K, Friedlander M, Phillips KA, Hogg D, Jewett MA, Lohynska R, Daugaard G, Richard S, Heidenreich A, Geczi L, Bodrogi I, Olah E, Ormiston WJ, Daly PA, Looijenga LH, Guilford P et al. (2004)
Somatic mutations of KIT in familial testicular germ cell tumours
Br J Cancer, 90 (12), 2397-401
DOI 10.1038/sj.bjc.6601880, PubMed 15150569

Reichelt JG, Heimdal K, Møller P, Dahl AA (2004)
BRCA1 testing with definitive results: a prospective study of psychological distress in a large clinic-based sample
Fam Cancer, 3 (1), 21-8
DOI 10.1023/B:FAME.0000026820.32469.4a, PubMed 15131402

Ruud E, Heiberg A (2004)
[New knowledge does not always make it simpler]
Tidsskr Nor Laegeforen, 124 (24), 3256-7
PubMed 15608782

Stray-Pedersen A, Jónsson T, Heiberg A, Lindman CR, Widing E, Aaberge IS, Borresen-Dale AL, Abrahamsen TG (2004)
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents
Clin Exp Immunol, 137 (1), 179-86
DOI 10.1111/j.1365-2249.2004.02492.x, PubMed 15196260

Publications 2003

Axelsson S, Bjørnland T, Kjaer I, Heiberg A, Storhaug K (2003)
Dental characteristics in Williams syndrome: a clinical and radiographic evaluation
Acta Odontol Scand, 61 (3), 129-36
DOI 10.1080/00016350310001451, PubMed 12868685

Bodd TL, Reichelt J, Heimdal K, Moller P (2003)
Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway
J Genet Couns, 12 (5), 405-17
DOI 10.1023/a:1025864703405, PubMed 14758817

Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG (2003)
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
J Med Genet, 40 (6), 459-63
DOI 10.1136/jmg.40.6.459, PubMed 12807969

Stormorken AT, Müller W, Lindblom A, Heimdal K, Aase S, Lothe IM, Norèn T, Wijnen JT, Möslein G, Møller P (2003)
The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours
Fam Cancer, 2 (1), 9-13
DOI 10.1023/a:1023362205205, PubMed 14574162

Publications 2002

Heimdal K, Skovlund E, Møller P (2002)
Oral contraceptives and risk of familial breast cancer
Cancer Detect Prev, 26 (1), 23-7
DOI 10.1016/s0361-090x(02)00004-1, PubMed 12088199

Mathisen AB, Vaaler S, Dramstad E, Abyholm T (2002)
[High-risk pregnancy, costs and DRG reimbursement]
Tidsskr Nor Laegeforen, 122 (5), 503-6
PubMed 11961980

Møller P, Borg A, Evans DG, Haites N, Reis MM, Vasen H, Anderson E, Steel CM, Apold J, Goudie D, Howell A, Lalloo F, Maehle L, Gregory H, Heimdal K (2002)
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy
Int J Cancer, 101 (6), 555-9
DOI 10.1002/ijc.10641, PubMed 12237897

Narod SA, Dubé MP, Klijn J, Lubinski J, Lynch HT, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber JE, Neuhausen SL, Ainsworth P, Olsson H, Evans G, Osborne M et al. (2002)
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
J Natl Cancer Inst, 94 (23), 1773-9
DOI 10.1093/jnci/94.23.1773, PubMed 12464649

Publications 2001

Andresen PA, Gedde-Dahl T, Fausa O, Eide TJ, Heiberg A (2001)
[Genetic analysis in familial adenomatous polyposis]
Tidsskr Nor Laegeforen, 121 (1), 64-8
PubMed 12013617

Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, Poptodorov G, Jordanova A, Rask-Andersen H, Kluwe L, Mautner V, Sainio M, Hung G, Mathiesen T, Möller C, Pulst SM et al. (2001)
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Hum Mol Genet, 10 (3), 271-82
DOI 10.1093/hmg/10.3.271, PubMed 11159946

Heiberg A (2001)
[Chronically ill and disabled children--a challenge for health services]
Tidsskr Nor Laegeforen, 121 (8), 898
PubMed 11332372

Heiberg A (2001)
Reflections on nursing in a new century
Int J Nurs Pract, 7 (1), 1
DOI 10.1046/j.1440-172x.2001.00293.x, PubMed 11811341

Heiberg A (2001)
[Aagenaes syndrome--lymphedema and intrahepatic cholestasis]
Tidsskr Nor Laegeforen, 121 (14), 1718-9
PubMed 11446017

Levin T, Reichelt J, Heimdal K, Møller P (2001)
[Information to families with hereditary breast and ovarian cancer]
Tidsskr Nor Laegeforen, 121 (28), 3292-4
PubMed 11826460

Møller P, Borg A, Heimdal K, Apold J, Vallon-Christersson J, Hovig E, Maehle L, Norwegian Inherited Breast Cancer Group, Norwegian Inherited Ovarian Cancer Group (2001)
The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series
Eur J Cancer, 37 (8), 1027-32
DOI 10.1016/s0959-8049(01)00075-2, PubMed 11334729

Møller P, Heimdal K, Apold J, Fredriksen A, Borg A, Hovig E, Hagen A, Hagen B, Pedersen JC, Maehle L, Norwegian Inherited Breast Cancer Group, Norwegian Inherited Ovarian Cancer Group (2001)
Genetic epidemiology of BRCA1 mutations in Norway
Eur J Cancer, 37 (18), 2428-34
DOI 10.1016/s0959-8049(01)00299-4, PubMed 11720839

Publications 2000

Apold J, Heimdal K, Møller P (2000)
[Screening for ovarian cancer]
Tidsskr Nor Laegeforen, 120 (16), 1913-4
PubMed 10925628

Badzioch M, Eeles R, Leblanc G, Foulkes WD, Giles G, Edwards S, Goldgar D, Hopper JL, Bishop DT, Møller P, Heimdal K, Easton D, Simard J (2000)
Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators
J Med Genet, 37 (12), 947-9
DOI 10.1136/jmg.37.12.947, PubMed 11186936

Heiberg A (2000)
[Genetic tests]
Tidsskr Nor Laegeforen, 120 (20), 2378
PubMed 11475218

Heiberg A (2000)
[With the Red Cross against AIDS]
Tidsskr Nor Laegeforen, 120 (29), 3597-8
PubMed 11188393

Høie J, Heimdal K, Nesland JM, Børmer O (2000)
[Prophylactic thyroidectomy in carriers of RET oncogene mutation carriers]
Tidsskr Nor Laegeforen, 120 (27), 3249-52
PubMed 11187163

Jakobsen LB, Moum T, Heiberg A (2000)
[Need of better knowledge of genetic tests among Norwegian physicians]
Tidsskr Nor Laegeforen, 120 (20), 2419-22
PubMed 11475229

Laake K, Jansen L, Hahnemann JM, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen-Dale AL (2000)
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia
Hum Mutat, 16 (3), 232-46
DOI 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L, PubMed 10980530

Larøi F, Fannemel M, Rønneberg U, Flekkøy K, Opjordsmoen S, Dullerud R, Haakonsen M (2000)
Unawareness of illness in chronic schizophrenia and its relationship to structural brain measures and neuropsychological tests
Psychiatry Res, 100 (1), 49-58
DOI 10.1016/s0925-4927(00)00063-9, PubMed 11090725

Møller P, Apold J, Maehle L, Heimdal K (2000)
[European guidelines for health care in hereditary breast cancer]
Tidsskr Nor Laegeforen, 120 (6), 726-7
PubMed 10806889

Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonnet D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H, Hereditary Breast Cancer Clinical Study Group (2000)
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group
Lancet, 356 (9245), 1876-81
DOI 10.1016/s0140-6736(00)03258-x, PubMed 11130383

Rapley EA, Crockford GP, Teare D, Biggs P, Seal S, Barfoot R, Edwards S, Hamoudi R, Heimdal K, Fossâ SD, Tucker K, Donald J, Collins F, Friedlander M, Hogg D, Goss P, Heidenreich A, Ormiston W, Daly PA, Forman D, Oliver TD, Leahy M, Huddart R, Cooper CS, Bodmer JG et al. (2000)
Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours
Nat Genet, 24 (2), 197-200
DOI 10.1038/72877, PubMed 10655070

Publications 1999

Borg A, Dørum A, Heimdal K, Maehle L, Hovig E, Møller P (1999)
BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations
Dis Markers, 15 (1-3), 79-84
DOI 10.1155/1999/278269, PubMed 10595257

Dørum A, Heimdal K, Hovig E, Inganäs M, Møller P (1999)
Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer
Am J Hum Genet, 65 (3), 671-9
DOI 10.1086/302530, PubMed 10441573

Dørum A, Heimdal K, Løvslett K, Kristensen G, Hansen LJ, Sandvei R, Schiefloe A, Hagen B, Himmelmann A, Jerve F, Shetelig K, Fjaerestad I, Tropé C, Møller P (1999)
Prospectively detected cancer in familial breast/ovarian cancer screening
Acta Obstet Gynecol Scand, 78 (10), 906-11
DOI 10.1034/j.1600-0412.1999.781013.x, PubMed 10577622

Heimdal K, Maehle L, Møller P (1999)
Costs and benefits of diagnosing familial breast cancer
Dis Markers, 15 (1-3), 167-73
DOI 10.1155/1999/751892, PubMed 10595273

Jakobsen LB, Malt U, Nilsson B, Rosenlund S, Heiberg A (1999)
[Psychosocial consequences of presymptomatic genetic testing. A retrospective study of testing for Huntington disease]
Tidsskr Nor Laegeforen, 119 (13), 1913-6
PubMed 10382341

Moller P, Borg A, Evans G, Haites N, Steel CM, Vasen H, Gregory H, Hodgson S, Apold J, Lalloo F, Maehle L, Anderson E, Heimdal K, Biomed 2 Demonstration Programme I (1999)
Mutation-specific survival of inherited breast cancer
Dis. Markers, 15 (1-3), 205
DOI 10.1155/1999/902648

Møller P, Evans G, Haites N, Vasen H, Reis MM, Anderson E, Apold J, Hodgson S, Eccles D, Olsson H, Stoppa-Lyonnet D, Chang-Claude J, Morrison PJ, Bevilacqua G, Heimdal K, Maehle L, Lalloo F, Gregory H, Preece P, Borg A, Nevin NC, Caligo M, Steel CM (1999)
Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer
Dis Markers, 15 (1-3), 207-11
DOI 10.1155/1999/920109, PubMed 10595280

Møller P, Reis MM, Evans G, Vasen H, Haites N, Anderson E, Steel CM, Apold J, Lalloo F, Maehle L, Preece P, Gregory H, Heimdal K (1999)
Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group
Dis Markers, 15 (1-3), 179-86
DOI 10.1155/1999/805420, PubMed 10595275

Reichelt JG, Dahl AA, Heimdal K, Møller P (1999)
Uptake of genetic testing and pre-test levels of mental distress in Norwegian families with known BRCA1 mutations
Dis Markers, 15 (1-3), 139-43
DOI 10.1155/1999/581346, PubMed 10595268

Stormorken AT, Apold J, Heimdal K, Møller P (1999)
[Hereditary colorectal cancer]
Tidsskr Nor Laegeforen, 119 (26), 3933-6
PubMed 10592756

Publications 1998

Dørum A, Heimdal K, Møller P (1998)
Clinical implications of BRCA1 genetic testing
Acta Obstet Gynecol Scand, 77 (4), 458-61
PubMed 9598958

Laake K, Telatar M, Geitvik GA, Hansen RO, Heiberg A, Andresen AM, Gatti R, Børresen-Dale AL (1998)
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect
Eur J Hum Genet, 6 (3), 235-44
DOI 10.1038/sj.ejhg.5200181, PubMed 9781027

Moller P, Maehle L, Heimdal K, Dorum A, Apold J, Engebretsen LF, Kaurin RM, Jorgensen OG, Helgerud P, Qvist H, Bjorndal H, Kullmann G, Bohler P, Nysted A, Soreide JA, Varhaug JE, Aas T, Fjosne HE, Hagen A, Due J, Karesen R, Formoe E, Malme PA, Stedjeberg JO, Svenningsen SS et al. (1998)
Prospective findings in breast cancer kindreds: annual incidence rates according to age, stage at diagnosis, mean sojourn time, and incidence rates for contralateral cancer
Breast, 7 (1), 55-59
DOI 10.1016/S0960-9776(98)90053-4

Rapley E, Tucker K, Collins F, Donald J, Friedlander M, Peng HQ, Goss P, Hogg D, Easton DF, Teare D, Bishop DT, Crockford G, Forman D, Leahy M, Bodmer JG, Moses J, Tonks S, Oliver RTD, Biggs P, Seal S, Barfoot R, Gill S, Patel S, Hamoudi R, Hunter R et al. (1998)
Candidate regions for testicular cancer susceptibility genes
APMIS, 106 (1), 64-70

Publications 1997

Dørum A, Abeler VM, Heimdal K, Tropé C, Møller P (1997)
The problem of skipped generation and subclinical disease in familial breast-ovarian cancer
Acta Obstet Gynecol Scand, 76 (2), 166-8
DOI 10.3109/00016349709050074, PubMed 9049291

Dørum A, Møller P, Kamsteeg EJ, Scheffer H, Burton M, Heimdal KR, Maehle LO, Hovig E, Tropé CG, van der Hout AH, van der Meulen MA, Buys CH, te Meerman GJ (1997)
A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing
Eur J Cancer, 33 (14), 2390-2
DOI 10.1016/s0959-8049(97)00328-6, PubMed 9616287

Dramstad E (1997)
[Crib death: same room for mother and infant. Interview by Ingrid S. Stephensen]
Jordmorbladet (4), 17
PubMed 9456742

Finne PH, Heiberg A, Holmström H (1997)
[Collagen analysis in fibroblasts in osteogenesis imperfecta. Clinical benefits]
Tidsskr Nor Laegeforen, 117 (10), 1469-73
PubMed 9178973

Heiberg A (1997)
[Dynamic mutations--new light on Huntington disease]
Tidsskr Nor Laegeforen, 117 (16), 2350-1
PubMed 9265284

Lynch ED, Ostermeyer EA, Lee MK, Arena JF, Ji H, Dann J, Swisshelm K, Suchard D, MacLeod PM, Kvinnsland S, Gjertsen BT, Heimdal K, Lubs H, Møller P, King MC (1997)
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis
Am J Hum Genet, 61 (6), 1254-60
DOI 10.1086/301639, PubMed 9399897

Publications 1996

Bjłrnstad A, Heiberg A (1996)
[Neurofibromatosis type I in Norway. A clinical prevalence study based on a small project]
Tidsskr Nor Laegeforen, 116 (26), 3108-10
PubMed 8999570

Møller P, Maehle L, Heimdal K, Dørum A, Tretli S, Helgerud P, Quist H, Bjørndal H, Kåresen R, Nysted A, Varhaug JE, Fjøsne HE, Guleng RJ, Due J, Bøhler P, Giercksky KE, Tropé C, Kvinnsland S (1996)
Inherited breast carcinoma--prospective findings in 1,194 women at risk
Acta Oncol, 35 Suppl 8, 7-11
DOI 10.3109/02841869609098515, PubMed 9073043

Saetersdal A, Dørum A, Heimdal K, Helgerud P, Sager EM, Bøhler P, Tretli S, Kvinnsland S, Møller P (1996)
Inherited predisposition to breast carcinoma. Results of first round examination of 537 women at risk
Anticancer Res, 16 (4A), 1989-92
PubMed 8712731

von Tetzchner S, Jacobsen KH, Smith L, Skjeldal OH, Heiberg A, Fagan JF (1996)
Vision, cognition and developmental characteristics of girls and women with Rett syndrome
Dev Med Child Neurol, 38 (3), 212-25
DOI 10.1111/j.1469-8749.1996.tb15083.x, PubMed 8631518

Publications 1995

Fosså SD, Lehne G, Heimdal K, Theodorsen L (1995)
Clinical and biochemical long-term toxicity after postoperative cisplatin-based chemotherapy in patients with low-stage testicular cancer
Oncology, 52 (4), 300-5
DOI 10.1159/000227478, PubMed 7539902

Heimdal K, Møller P, Moe TJ (1995)
[Psychosocial aspects of presymptomatic testing for genetic diseases]
Tidsskr Nor Laegeforen, 115 (7), 870
PubMed 7701500

Skjeldal OH, von Tetzchner S, Jacobsen K, Smith L, Heiberg A (1995)
Rett syndrome--distribution of phenotypes with special attention to the preserved speech variant
Neuropediatrics, 26 (2), 87
DOI 10.1055/s-2007-979732, PubMed 7566462

Publications 1994

Andersen TI, Heimdal KR, Skrede M, Tveit K, Berg K, Børresen AL (1994)
Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility
Hum Genet, 94 (6), 665-70
DOI 10.1007/BF00206961, PubMed 7989041

Fosså SD, Wanderås EH, Heimdal K (1994)
Second cancer after treatment of malignant germ-cell tumors
World J Urol, 12 (3), 151-4
DOI 10.1007/BF00192277, PubMed 7951342

FOSSA SD, WANDERAS EH, HEIMDAL K (1994)
2ND CANCER AFTER TREATMENT OF MALIGNANT GERM-CELL TUMORS
World J. Urol., 12 (3), 151-154

Heiberg A (1994)
[Problems of small patient groups, illustrated by Williams syndrome]
Tidsskr Nor Laegeforen, 114 (1), 14
PubMed 8296273

HEIMDAL K, LOTHE RA, FOSSA SD, BORRESEN AL (1994)
THE WILMS-TUMOR 1 GENE IN TESTICULAR CANCER-PATIENTS
ADV BIOSCI, 91, 145-146

Møller P, Fosså SD, Heimdal K, Kvinnsland S, Giercksky KE, Woehre H (1994)
[Screening for early diagnosis of prostatic cancer]
Tidsskr Nor Laegeforen, 114 (9), 1104-5
PubMed 8009529

Publications 1993

Andersen TI, Holm R, Nesland JM, Heimdal KR, Ottestad L, Børresen AL (1993)
Prognostic significance of TP53 alterations in breast carcinoma
Br J Cancer, 68 (3), 540-8
DOI 10.1038/bjc.1993.383, PubMed 8102535

Fannemel M, Riise R, Lofterød B, Tommerup N (1993)
High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome
Clin Genet, 43 (2), 111-2
DOI 10.1111/j.1399-0004.1993.tb04461.x, PubMed 8448900

Heimdal K, Fosså SD (1993)
Urologic cancer in elderly patients
Curr Opin Oncol, 5 (3), 568-73
DOI 10.1097/00001622-199305000-00019, PubMed 8494916

Lothe RA, Hastie N, Heimdal K, Fosså SD, Stenwig AE, Børresen AL (1993)
Frequent loss of 11p13 and 11p15 loci in male germ cell tumours
Genes Chromosomes Cancer, 7 (2), 96-101
DOI 10.1002/gcc.2870070206, PubMed 7687459

Lothe RA, Peltomäki P, Meling GI, Aaltonen LA, Nyström-Lahti M, Pylkkänen L, Heimdal K, Andersen TI, Møller P, Rognum TO (1993)
Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history
Cancer Res, 53 (24), 5849-52
PubMed 8261392

Ryberg D, Heimdal K, Fosså SD, Børresen AL, Haugen A (1993)
Rare Ha-ras1 alleles and predisposition to testicular cancer
Int J Cancer, 53 (6), 938-40
DOI 10.1002/ijc.2910530612, PubMed 8097187

Publications 1992

Daniels RJ, Suthers GK, Morrison KE, Thomas NH, Francis MJ, Mathew CG, Loughlin S, Heiberg A, Wood D, Dubowitz V (1992)
Prenatal prediction of spinal muscular atrophy
J Med Genet, 29 (3), 165-70
DOI 10.1136/jmg.29.3.165, PubMed 1348091

Heiberg A (1992)
[Expertise on examination and treatment of children with developmental and behavior disorders]
Tidsskr Nor Laegeforen, 112 (8), 1001-2
PubMed 1372769

Heimdal K, Hirschberg H, Slettebø H, Watne K, Nome O (1992)
High incidence of serious side effects of high-dose dexamethasone treatment in patients with epidural spinal cord compression
J Neurooncol, 12 (2), 141-4
DOI 10.1007/BF00172664, PubMed 1560260

Lothe RA, Heimdal K, Lier ME, Fosså SD, Møller P, Brøgger A (1992)
High resolution chromosome banding in search of germ line mutations applied on testicular cancer patients
Cancer Genet Cytogenet, 59 (1), 62-7
DOI 10.1016/0165-4608(92)90160-a, PubMed 1555193

Thommessen M, Heiberg A, Kase BF (1992)
Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome
Eur J Clin Nutr, 46 (7), 457-64
PubMed 1623850

Thommessen M, Kase BF, Heiberg A (1992)
Growth and nutrition in 10 girls with Rett syndrome
Acta Paediatr, 81 (9), 686-90
DOI 10.1111/j.1651-2227.1992.tb12334.x, PubMed 1421909

Tommerup N, van der Hagen CB, Heiberg A (1992)
Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
Am J Med Genet, 44 (2), 237-41
DOI 10.1002/ajmg.1320440223, PubMed 1456298

Publications 1991

Fosså SD, Nesland JM, Pettersen EO, Amellem O, Waehre H, Heimdal K (1991)
DNA ploidy in primary testicular cancer
Br J Cancer, 64 (5), 948-52
DOI 10.1038/bjc.1991.432, PubMed 1931622

Thommessen M, Heiberg A, Kase BF, Larsen S, Riis G (1991)
Feeding problems, height and weight in different groups of disabled children
Acta Paediatr Scand, 80 (5), 527-33
DOI 10.1111/j.1651-2227.1991.tb11897.x, PubMed 1831317

Thommessen M, Kase BF, Riis G, Heiberg A (1991)
The impact of feeding problems on growth and energy intake in children with cerebral palsy
Eur J Clin Nutr, 45 (10), 479-87
PubMed 1782919

Thommessen M, Riis G, Kase BF, Larsen S, Heiberg A (1991)
Energy and nutrient intakes of disabled children: do feeding problems make a difference?
J Am Diet Assoc, 91 (12), 1522-5
PubMed 1960343

Publications 1990

Aakhus T, Brosstad F, Halse J, Ose L, Brodwall EK, Finne P, Natvig J, Stavem P, Heiberg A, Orstavik LA (1990)
[Are prosecuted parents allowed the benefit of the doubt in cases of child abuse?]
Tidsskr Nor Laegeforen, 110 (5), 627-8
PubMed 2309218

Børresen AL, Andersen TI, Tretli S, Heiberg A, Møller P (1990)
Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia
Genes Chromosomes Cancer, 2 (4), 339-40
DOI 10.1002/gcc.2870020412, PubMed 2268581

Hagen T, Jensen D, Dietrichson P, Heiberg A (1990)
[Charcot-Marie-Tooth disease. Peroneal muscular atrophy]
Tidsskr Nor Laegeforen, 110 (24), 3110-5
PubMed 2237866

Heimdal K, Fosså SD, Johansen A (1990)
Increasing incidence and changing stage distribution of testicular carcinoma in Norway 1970-1987
Br J Cancer, 62 (2), 277-8
DOI 10.1038/bjc.1990.277, PubMed 2386743

Heutink P, van de Wetering BJ, Breedveld GJ, Weber J, Sandkuyl LA, Devor EJ, Heiberg A, Niermeijer MF, Oostra BA (1990)
No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18
J Med Genet, 27 (7), 433-6
DOI 10.1136/jmg.27.7.433, PubMed 2395161

Lien HH, Blomlie V, Heimdal K (1990)
Magnetic resonance imaging of malignant extradural tumors with acute spinal cord compression
Acta Radiol, 31 (2), 187-90
PubMed 2372462

Publications 1989

Heimdal K, Hannisdal E, Gundersen S (1989)
Regression analyses of prognostic factors in metastatic malignant melanoma
Eur J Cancer Clin Oncol, 25 (8), 1219-23
DOI 10.1016/0277-5379(89)90418-5, PubMed 2767110

Publications 1988

KOLSET K, HEIBERG A (1988)
EVALUATION OF THE FUGACITY (FEQUM) AND THE EXAMS CHEMICAL FATE AND TRANSPORT MODELS - A CASE-STUDY ON THE POLLUTION OF THE NORRSUNDET BAY (SWEDEN)
Water Sci. Technol., 20 (2), 1-12

Michalsen H, Follerås S, Bentsen BS, Heiberg A (1988)
Social-medical aspects of cystic fibrosis in Norway. I. Characterization of the material
Scand J Gastroenterol Suppl, 143, 52-5
DOI 10.3109/00365528809090215, PubMed 3164510

Publications 1987

Børresen AL, Heiberg A, Møller P, Berg K (1987)
Evidence for a sperm mutation resulting in Duchenne muscular dystrophy
Clin Genet, 32 (3), 187-91
DOI 10.1111/j.1399-0004.1987.tb03352.x, PubMed 2887319

Publications 1986

Tommerup N, Aula P, Gustavii B, Heiberg A, Holmgren G, von Koskull H, Leisti J, Mikkelsen M, Mitelman F, Nielsen KB (1986)
Second trimester prenatal diagnosis of the fragile X
Am J Med Genet, 23 (1-2), 313-24
DOI 10.1002/ajmg.1320230124, PubMed 2937296

Vilming ST, Dietrichson P, Isachsen MM, Løvvik L, Heiberg A (1986)
Late-onset hereditary myopathy with abnormal mitochondria and progressive dementia
Acta Neurol Scand, 73 (5), 502-6
DOI 10.1111/j.1600-0404.1986.tb04594.x, PubMed 3727928

Publications 1985

Donald JA, Wallis SC, Kessling A, Tippett P, Robson EB, Ball S, Davies KE, Scambler P, Berg K, Heiberg A (1985)
Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19
Hum Genet, 69 (1), 39-43
DOI 10.1007/BF00295527, PubMed 3855405

Heimdal K, Sundalsfoll S (1985)
[Baker's cyst with concomitant deep venous thrombosis]
Tidsskr Nor Laegeforen, 105 (7), 501-2
PubMed 3887640

Publications 1984

Humphries SE, Donald JA, McFadden JJ, Shull S, Williamson R, Jowett NI, Galton DJ, Julsrud JO, Berg K, Heiberg A (1984)
The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia
Atherosclerosis, 52 (3), 267-78
DOI 10.1016/0021-9150(84)90056-x, PubMed 6497930

LUTHI HP, SIEGBAHN EM, ALMLOF J, FAEGRI K, HEIBERG A (1984)
THE EFFECT OF ELECTRON CORRELATION ON THE METAL-LIGAND BOND IN FERROCENE
Chem. Phys. Lett., 111 (1-2), 1-6
DOI 10.1016/0009-2614(84)80427-3

Publications 1983

Mouland G, Heimdal K (1983)
[Sickle cell anemia--a rare disease in Norway]
Tidsskr Nor Laegeforen, 103 (4), 299-301
PubMed 6857613

Publications 1982

HEIBERG A, ALMLOF J (1982)
COMPLETE ACTIVE SPACE SCF (CAS SCF) CALCULATIONS ON THE EQUILIBRIUM GEOMETRY AND VIBRATIONAL-SPECTRUM OF THE HNO MOLECULE IN ITS LOWEST 1A', 1A' AND 3A' STATES
Chem. Phys. Lett., 85 (5-6), 542-548
DOI 10.1016/0009-2614(82)80355-2

HEIBERG A, ALMLOF J, NEMUKHIN AV (1982)
CAS SCF CALCULATIONS OF POTENTIAL-ENERGY CURVES FOR THE BO- ION
Chem. Phys. Lett., 88 (4), 399-403
DOI 10.1016/0009-2614(82)83033-9

Møller P, Heiberg A, Berg K (1982)
The atrioventricular conduction time - a heritable trait? III. Twin studies
Clin Genet, 21 (3), 181-3
DOI 10.1111/j.1399-0004.1982.tb00960.x, PubMed 7201363

Publications 1981

ALMLOF J, NEMUKHIN AV, HEIBERG A (1981)
TREATMENT OF EXCITED-STATES IN THE CASSCF METHOD - APPLICATION TO BO
Int. J. Quantum Chem., 20 (3), 655-667
DOI 10.1002/qua.560200308

Heiberg A, Magnus P, Berg K, Nance WE (1981)
Blood pressure in Norwegian twins
Prog Clin Biol Res, 69 Pt C, 163-8
PubMed 7198238

NEMUKHIN AV, ALMLOF J, HEIBERG A (1981)
POTENTIAL CURVES OF BO AND LIO CALCULATED WITH THE COMPLETE ACTIVE SPACE SCF (CASSCF) METHOD
Chem. Phys., 57 (1-2), 197-206

NEMUKHIN AV, ALMLOF JE, HEIBERG A (1981)
SCF AND CASSCF STUDIES OF GEOMETRICAL REARRANGEMENTS IN LIBO
Theor. Chim. Acta, 59 (1), 9-16
DOI 10.1007/BF00574432

SIEGBAHN PEM, ALMLOF J, HEIBERG A, ROOS BO (1981)
THE COMPLETE ACTIVE SPACE SCF (CASSCF) METHOD IN A NEWTON-RAPHSON FORMULATION WITH APPLICATION TO THE HNO MOLECULE
J. Chem. Phys., 74 (4), 2384-2396
DOI 10.1063/1.441359

Publications 1980

Heiberg A, Helöe B, Heiberg AN, Helöe LA, Magnus P, Berg K, Nance WE (1980)
Myofascial pain dysfunction (MPD) syndrome in twins
Community Dent Oral Epidemiol, 8 (8), 434-6
DOI 10.1111/j.1600-0528.1980.tb01323.x, PubMed 6942960

Heimdal K (1980)
[Acute manure gas intoxication]
Tidsskr Nor Laegeforen, 100 (32), 1913-4
PubMed 7456051

Møller P, Heiberg A (1980)
Atrioventricular conduction time--a heritable trait?
Clin Genet, 18 (6), 454-5
DOI 10.1111/j.1399-0004.1980.tb01793.x, PubMed 7449186

Møller P, Heiberg A (1980)
Atrioventricular conduction time--a heritable trait?
Clin Genet, 18 (6), 450-3
DOI 10.1111/j.1399-0004.1980.tb01792.x, PubMed 7449185

NEMUKHIN AV, ALMLOF J, HEIBERG A (1980)
POTENTIAL CURVES FOR BLI AND BLI
Chem. Phys. Lett., 76 (3), 601-603
DOI 10.1016/0009-2614(80)80677-4

Publications 1979

Askevold F, Heiberg A (1979)
Anorexia nervosa--two cases in discordant MZ twins
Psychother Psychosom, 32 (1-4), 223-8
DOI 10.1159/000287391, PubMed 550176

Publications 1978

Berg K, Heiberg A (1978)
Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed
Cytogenet Cell Genet, 22 (1-6), 621-3
DOI 10.1159/000131037, PubMed 752554

Dahl AA, Dahl CI, Heiberg A, Husby R, Olafsen OM, Sørensen T, Weisaeth L (1978)
A presentation of short-term psychotherapy project at the Oslo University Psychiatric Clinic
Psychother Psychosom, 29 (1-4), 299-304
DOI 10.1159/000287145, PubMed 724946

Heiberg A (1978)
The main lines of the short-term psychotherapy project in Oslo
Psychother Psychosom, 29 (1-4), 309-11
DOI 10.1159/000287148, PubMed 724949

Heiberg AN, Heiberg A (1978)
A possible genetic contribution to the alexithymia trait
Psychother Psychosom, 30 (3-4), 205-10
DOI 10.1159/000287301, PubMed 570290

WILLE LE, HEIBERG A, GJONE E (1978)
STUDIES ON SERUM PRE-ALPHA-LIPOPROTEIN - ALBUMIN-APOA-I-LYSOLECITHIN-CONTAINING LIPOPROTEIN FAMILY (AAL)
Scand. J. Clin. Lab. Invest., 38 150, 59-65
DOI 10.3109/00365517809104901

Wille LE, Heiberg A, Gjone E (1978)
Studies on serum pre-alpha-lipoprotein. An albumin-ApoA-I-lysolecithin-containing lipoprotein family (AAL)
Scand J Clin Lab Invest Suppl, 150, 59-65
PubMed 85328

Publications 1977

Heiberg A, Heiberg A (1977)
Alexithymia -- an inherited trait?
Psychother Psychosom, 28 (1-4), 221-5
DOI 10.1159/000287066, PubMed 565064

Heiberg A, Slack J (1977)
Family similarities in the age at coronary death in familial hypercholesterolaemia
Br Med J, 2 (6085), 493-5
DOI 10.1136/bmj.2.6085.493, PubMed 890365

Helöe B, Helöe LA, Heiberg A (1977)
Relationship between sociomedical factors and TMJ-symptoms in Norwegians with myofascial pain-dysfunction syndrome
Community Dent Oral Epidemiol, 5 (5), 207-12
DOI 10.1111/j.1600-0528.1977.tb01642.x, PubMed 269766

Publications 1976

Berg K, Heiberg A (1976)
Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism
Birth Defects Orig Artic Ser, 12 (7), 266-70
PubMed 1024622

Berg K, Heiberg A (1976)
Linkage studies on familial hyperlipoproteinemia with xanthomatosis: normal lipoprotein markers and the C3 polymorphism
Cytogenet Cell Genet, 16 (1-5), 266-70
DOI 10.1159/000130606, PubMed 975887

HEIBERG A, BERG K (1976)
INHERITANCE OF HYPERLIPOPROTEINEMIA WITH XANTHOMATOSIS - STUDY OF 132 KINDREDS
Clin. Genet., 9 (2), 203-233

Heiberg A, Berg K (1976)
The inheritance of hyperlipoproteinaemia with xanthomatosis. A study of 132 kindreds
Clin Genet, 9 (2), 203-33
DOI 10.1111/j.1399-0004.1976.tb01569.x, PubMed 174852

OTTERSEN T, HEIBERG A (1976)
EFFECT OF HYDROGEN-BONDING ON STRUCTURAL PARAMETERS .7. ON ADDITIVITY OF BOND LENGTH CHANGES - AN ABINITIO STUDY OF DIHYDRATED FORMAMIDE MOLECULE
ADV MOL RELAX INT PR, 8 (4), 305-311
DOI 10.1016/0001-8716(76)80034-X

Publications 1975

Eitinger L, Heiberg A, Sifneos P, Waldenstrom E (1975)
Psychotherapeutic problems, research and plans at the Psychiatric Department, University of Oslo
Psychother Psychosom, 25 (1-6), 221-4
DOI 10.1159/000286869, PubMed 1129413

Heiberg A (1975)
The risk of atherosclerotic vascular disease in subjects with xanthomatosis
Acta Med Scand, 198 (4), 249-61
DOI 10.1111/j.0954-6820.1975.tb19536.x, PubMed 1189982

Heiberg A (1975)
The lipoprotein and lipid pattern in xanthomatosis
Acta Med Scand, 198 (3), 183-95
DOI 10.1111/j.0954-6820.1975.tb19526.x, PubMed 1180126

Heiberg A, Berg K (1975)
Linkage data on the MNSs blood group-red cell acid phosphatase realationship
Hum Hered, 25 (2), 93-4
DOI 10.1159/000152713, PubMed 1150305

Heiberg A, Sorensen T, Olafsen OM (1975)
Short-term dynamic psychotherapy; three models of treatment
Psychother Psychosom, 26 (4), 229-36
DOI 10.1159/000286934, PubMed 1226419

Publications 1974

Heiberg A (1974)
The heritability of serum lipoprotein and lipid concentrations. A twin study
Clin Genet, 6 (4), 307-16
DOI 10.1111/j.1399-0004.1974.tb02091.x, PubMed 4474930

Heiberg A, Berg K (1974)
On the relationship between Lp(a) lipoprotein, "sinking pre-beta-lipoprotein" and inherited hyper-beta-lipoproteinaemia
Clin Genet, 5 (2), 144-56
PubMed 4364245

HEIBERG A, BERG K (1974)
RELATIONSHIP BETWEEN LP(A) LIPOPROTEIN, SINKING PRE-BETA-LIPOPROTEIN AND INHERITED HYPERBETALIPOPROTEINEMIA
Clin. Genet., 5 (2), 144-156

Heiberg A, Grieg A (1974)
Serum lipid and lipoprotein concentrations in a Norwegian population sample
Acta Med Scand, 196 (3), 155-60
DOI 10.1111/j.0954-6820.1974.tb00989.x, PubMed 4371219

Publications 1973

Heiberg A (1973)
A comparative study of different electrophoretic techniques for classification of hereditary hyperlipoproteinaemias
Clin Genet, 4 (5), 450-60
DOI 10.1111/j.1399-0004.1973.tb01176.x, PubMed 4127396

Heiberg A, Amundsen S (1973)
Red cell acid phosphatase polymorphism in a Norwegian population sample
Hum Hered, 23 (4), 352-6
DOI 10.1159/000152596, PubMed 4775459

Publications 1972

Heiberg A, Lingjaerde O (1972)
A controlled study on the possible effect of dihydroergotamine against dryness of the mouth in patients treated with tricyclic antidepressants
Acta Psychiatr Scand, 48 (4), 353-9
DOI 10.1111/j.1600-0447.1972.tb04376.x, PubMed 4566565

Publications 1970

Heiberg A (1970)
[Iron lung (siderosis)]
Tidsskr Nor Laegeforen, 90 (5), 499-500
PubMed 5426199

Publications 1969

Heiberg A (1969)
[Delirious reactions in acute pancreatitis]
Nord Med, 82 (37), 1130-2
PubMed 5307785

Heiberg A (1969)
[Reflex time and thyroid function]
Tidsskr Nor Laegeforen, 89 (16), 1246-7
PubMed 5375346

Heiberg A (1969)
[Familial sarcoidosis]
Nord Med, 81 (18), 565-6
PubMed 5768310

Heiberg A (1969)
[Nicotinyl alcohol as a cholesterol-lowering agent]
Nord Med, 81 (22), 698-700
PubMed 5796529

Publications 1967

Heiberg A (1967)
[Spray treatment for bronchial asthma]
Tidsskr Nor Laegeforen, 87 (24), 2053-4
PubMed 5590476

Larsen O, Heiberg A (1967)
[Diagram of hemoglobin-hematocrit-MCHC correlations as a record form in anemia therapy]
Nord Med, 78 (37), 1190-2
PubMed 6054467

Publications 1966

Heiberg A (1966)
[Achilles tendon reflex time as a measure of thyroid function]
Tidsskr Nor Laegeforen, 86 (24), 1736-8 passim
PubMed 5980417

Publications 1964

HEIBERG A (1964)
[ACUTE TOLUENE POISONING. AN ACCIDENTAL CASE WHILE PAINTING IN A SILO]
Tidsskr Nor Laegeforen, 84, 623-4
PubMed 14144342

Publications 1963

HEIBERG A (1963)
[2 CASES OF THROMBOCYTOPENIC PURPURA AFTER ACUTE EXANTHEMATOUS CHILDHOOD DISEASES]
Tidsskr Nor Laegeforen, 83, 1465-6
PubMed 14055690

 
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