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Journal Article (172)
21.
Journal Article
101 (5), pp. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 22.
Journal Article
140 (11), pp. 2879 - 2894 (2017)
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 23.
Journal Article
25 (9), pp. 1078 - 1082 (2017)
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 24.
Journal Article
3 (3), e148 (2017)
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 25.
Journal Article
38 (4), pp. 409 - 425 (2017)
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 26.
Journal Article
605, pp. 92 - 98 (2017)
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 27.
Journal Article
8, 8:14536 (2017)
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nature Communications 28.
Journal Article
8, 8:85 (2016)
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 29.
Journal Article
170 (1), pp. 94 - 102 (2016)
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A 30.
Journal Article
21 (1), pp. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 31.
Journal Article
89 (1), pp. 120 - 127 (2016)
New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 32.
Journal Article
9, 9:57 (2016)
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. Molecular Cytogenetics 33.
Journal Article
24 (25), pp. 7171 - 7181 (2015)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 34.
Journal Article
97 (6), pp. 922 - 932 (2015)
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 35.
Journal Article
36 (12), pp. 1176 - 1187 (2015)
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36.
Journal Article
36 (12), pp. 1155 - 1158 (2015)
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 37.
Journal Article
23 (10), pp. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 38.
Journal Article
97 (2), pp. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 39.
Journal Article
97 (2), pp. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 40.
Journal Article
469 (3), pp. 409 - 420 (2015)
Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16. Biochemical Journal