Genome variation in neurodevelopmental diseases or syndromes

Publications 2020

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

Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L et al. (2020)
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Am J Hum Genet, 106 (6), 893-904
DOI 10.1016/j.ajhg.2020.04.005, PubMed 32386558

Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181

Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH (2020)
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
Hum Mol Genet, 29 (13), 2218-2239
DOI 10.1093/hmg/ddaa108, PubMed 32504085

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

Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P (2020)
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336

Publications 2019

Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E (2019)
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
Cell Calcium, 85, 102110
DOI 10.1016/j.ceca.2019.102110, PubMed 31785581

Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (2019)
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414

Publications 2018

Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Cell Calcium, 76, 87-100
DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422

Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653

Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914

Publications 2017

Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H et al. (2017)
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Genet Med, 20 (7), 778-784
DOI 10.1038/gim.2017.113, PubMed 28837161

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
Am J Hum Genet, 100 (6), 907-925
DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647

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

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
J Med Genet, 54 (7), 460-470
DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535

Publications 2016

Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704

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

Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364

Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860

Publications 2015

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

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
DOI 10.1186/s12881-015-0260-4, PubMed 26684006

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

Askautrud HA, Gjernes E, Gunnes G, Sletten M, Ross DT, Børresen-Dale AL, Iversen N, Tranulis MA, Frengen E (2014)
Global gene expression analysis reveals a link between NDRG1 and vesicle transport
PLoS One, 9 (1), e87268
DOI 10.1371/journal.pone.0087268, PubMed 24498060

Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D (2014)
A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
Gene, 539 (1), 168-72
DOI 10.1016/j.gene.2014.01.060, PubMed 24508274

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

Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
A dominant STIM1 mutation causes Stormorken syndrome
Hum Mutat, 35 (5), 556-64
DOI 10.1002/humu.22544, PubMed 24619930

Vetvik KK, Sonerud T, Lindeberg M, Lüders T, Størkson RH, Jonsdottir K, Frengen E, Pietiläinen KH, Bukholm I (2014)
Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies
Metabolism, 63 (5), 672-81
DOI 10.1016/j.metabol.2014.02.001, PubMed 24636346

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038

Publications 2012

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