Publications 2021

Harris HK, Nakayama T, Lai J, Zhao BX, 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, van Gassen KLI, van Binsbergen E, Pfundt R, Gardeitchik T, de 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

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 YP, Schaaf CP, Wang X, CAUSES Study C4RCD Res Grp (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

Sumathipala DS, Stromme P, Gilissen C, Einarsen IH, Bjorndalen 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

Publications 2019

Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A, Kvarnung M, Kleefstra T, de Vries BBA, Kury S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF, Bakshi M, Wilson M, Berman Y, Dickson R, Fransen E et al. (2019)
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Biol. Psychiatry, 85 (4), 287-297
DOI 10.1016/j.biopsych.2018.02.1173

Publications 2017

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J, Grozeva D, Asam T, Moore D, Sifrim A et al. (2017)
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Genet. Med., 19 (8), 900-908
DOI 10.1038/gim.2016.211

Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P, DDD Study (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

Publications 2016

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destree A, Dilena R, Erasmus CE, Fannemel M, Fjaer R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ et al. (2016)
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
Neurology, 86 (10), 954-962
DOI 10.1212/WNL.0000000000002457

Publications 2015

Carlsen EO, 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, 167 (8), 1890-1896
DOI 10.1002/ajmg.a.37079

Hladilkova E, Baroy T, Fannemel M, Vallova V, Misceo D, Bryn V, Slamova I, Prasilova S, Kuglik P, Frengen E (2015)
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
Mol. Cytogenet., 8, 57
DOI 10.1186/s13039-015-0157-0

Publications 2014

Fannemel M, Baroy T, Holmgren A, Rodningen 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), 513-519
DOI 10.1016/j.ejmg.2014.05.008

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rodningen 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, 164 (7), 1622-1626
DOI 10.1002/ajmg.a.36498

Publications 2013

Baroy T, Misceo D, Stromme P, Stray-Pedersen A, Holmgren A, Rodningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
Orphanet J. Rare Dis., 8, 3
DOI 10.1186/1750-1172-8-3

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), 361-364
DOI 10.1016/j.ejmg.2013.04.005

Helle JR, Baroy T, Misceo D, Braaten O, 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), 1137-1142
DOI 10.1002/ajmg.a.35823

Publications 2012

Floor K, Baroy 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), 695-699
DOI 10.1016/j.ejmg.2012.08.002

Misceo D, Baroy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
1.5 Mb 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

Selmer KK, Bryne E, Rodningen 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), 715-718
DOI 10.1016/j.ejmg.2012.08.005

Publications 2011

Misceo D, Rodningen OK, Baroy T, Sorte H, Mellembakken JR, Stromme 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), 403-408
DOI 10.1002/ajmg.a.33798

Willemsen MH, Vulto-Van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CMA, Delle Chiaie B, Innes AMM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, van den Enden PTJMH, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S et al. (2011)
Update on Kleefstra Syndrome
Mol. Syndromol., 2 (3-5), 202-212
DOI 10.1159/000335648

Publications 2010

Baroy T, Misceo D, Braaten O, Helle JR, Fannemel M, Stromme 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), 221-224
DOI 10.1016/j.ejmg.2010.03.010

Publications 2009

Misceo D, Fannemel M, Baroy T, Roberto R, Tvedt B, Jaeger T, Bryn V, Stromme P, Frengen E (2009)
SCA27 caused by a chromosome translocation: further delineation of the phenotype
Neurogenetics, 10 (4), 371-374
DOI 10.1007/s10048-009-0197-x

Publications 2000

Laroi F, Fannemel M, Ronneberg U, Flekkoy 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. Neuroimaging, 100 (1), 49-58
DOI 10.1016/S0925-4927(00)00063-9

Publications 1993

FANNEMEL M, RIISE R, LOFTEROD B, TOMMERUP N (1993)
HIGH-RESOLUTION CHROMOSOME ANALYSIS IN AUTOSOMAL RECESSIVE DISORDERS - LAURENCE-MOON-BARDET-BIEDL SYNDROME
Clin. Genet., 43 (2), 111-112
DOI 10.1111/j.1399-0004.1993.tb04461.x