Publications

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2021
Klöckner, C. et al. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med 23, 653-660 (2021).
Rodríguez-Palmero, A. et al. DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
Radio, F. Clementina et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet 108, 502-516 (2021).
Muir, A. M. et al. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med 23, 881-887 (2021).
2020
Tan, T. Yang et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. Am J Hum Genet 106, 467-483 (2020).
Saad, A. K. et al. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain 143, e83 (2020).
Sabo, A. et al. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med 8, e1439 (2020).
Balaraju, S. et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 28, 373-377 (2020).
Van Bergen, N. J. et al. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130 (2020).
Zhang, L. Xin et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22, 1338-1347 (2020).
Pravata, V. M. et al. A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett 594, 717-727 (2020).
C Y Mak, C. et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020).
Batzir, N. Assia et al. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A 182, 38-52 (2020).
Castilla-Vallmanya, L. et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
Pinard, A. et al. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genet Med 22, 427-431 (2020).
Shao, D. D. et al. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol 88, 1153-1164 (2020).
2019
Vetrini, F. et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med 11, 12 (2019).
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
2018
Carvalho, D. R., Medeiros, J. Eugenio G., Ribeiro, D. Sebestyan, Martins, B. J. A. F. & Sobreira, N. L. M. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. Eur J Med Genet 61, 134-138 (2018).
Makrythanasis, P. et al. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet 26, 330-339 (2018).
Guissart, C. et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet 102, 744-759 (2018).
Santos-Cortez, R. Lyn P. et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet 137, 735-752 (2018).
Støve, S. Isungset et al. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet 26, 1294-1305 (2018).
Cheng, H. et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
2017
Küry, S. et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
Lessel, D. et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet 101, 716-724 (2017).
T Yates, M. et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A 173, 3003-3012 (2017).
Jehee, F. S. et al. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
Zhang, J. et al. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet 136, 377-386 (2017).
Marom, R. et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Hamdan, F. F. et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet 101, 664-685 (2017).
Kariminejad, A. et al. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet 62, 465-471 (2017).
Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
Gold, W. A. et al. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A 173, 2246-2250 (2017).
Bostwick, B. L. et al. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med 9, 73 (2017).
Schoch, K. et al. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet 100, 343-351 (2017).
2016
Stray-Pedersen, A. et al. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet 98, 202-9 (2016).
Ma, L. et al. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet 135, 1399-1409 (2016).
Kim, J. - H. et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet 99, 711-719 (2016).
Ansar, M. et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet 24, 1223-7 (2016).
Petrovski, S. et al. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet 98, 1001-1010 (2016).
Ben-Salem, S. et al. Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. Am J Med Genet A 170A, 156-61 (2016).
Fieremans, N. et al. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat 37, 804-11 (2016).
Johansen, A. et al. Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features. Am J Hum Genet 99, 912-916 (2016).
Yuan, B. et al. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet 135, 1161-74 (2016).
White, J. et al. POGZ truncating alleles cause syndromic intellectual disability. Genome Med 8, 3 (2016).
You, J. et al. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet 98, 909-918 (2016).
Alodaib, A. et al. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. Eur J Hum Genet 25, 79-84 (2016).
2015
Bosch, D. G. M. et al. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet 23, 1689-93 (2015).
Lupski, J. R. Cognitive phenotypes and genomic copy number variations. JAMA 313, 2029-30 (2015).

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