Madeleine Fannemel
- Consultant
Publications 2022
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
J Med Genet, 60 (6), 620-626
DOI 10.1136/jmg-2022-108678, PubMed 36368868
Publications 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
Publications 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
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
Publications 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, PubMed 28151491
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
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Neurology, 86 (10), 954-62
DOI 10.1212/WNL.0000000000002457, PubMed 26865513
Publications 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
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, PubMed 26236398
Publications 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
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
Publications 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, PubMed 23294540
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
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
Publications 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
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
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
Update on Kleefstra Syndrome
Mol Syndromol, 2 (3-5), 202-212
DOI 10.1159/000335648, PubMed 22670141
Publications 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
Publications 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
Publications 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
Publications 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
Publications 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