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2019
Staretz-Chacham, O. et al. Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. Am J Med Genet A 179, 2112-2118 (2019).
Kaplan, K., McCool, C., Lupski, J. R., Glaze, D. & Potocki, L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A 179, 1982-1986 (2019).
Gorcenco, S. et al. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?. Parkinsonism Relat Disord 61, 245-247 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Paine, I. et al. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet 105, 302-316 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Amor, D. J. et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet 104, 914-924 (2019).
Fichtman, B. et al. Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Am J Hum Genet 105, 48-64 (2019).
Fichtman, B. et al. Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Am J Hum Genet 105, 48-64 (2019).
Davis, S. D. et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med 199, 190-198 (2019).
Liu, P. et al. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med 380, 2478-2480 (2019).
Aldinger, K. A. et al. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet 27, 1649-1658 (2019).
Yakoreva, M. et al. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet 27, 1649-1658 (2019).
Gould, R. A. et al. ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. Nat Genet 51, 42-50 (2019).
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).
Liu, J. et al. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med 21, 1548-1558 (2019).
Liu, J. et al. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med 21, 1548-1558 (2019).
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
Carapito, R. et al. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 104, 319-330 (2019).
2018
Lessel, D. et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet 137, 921-939 (2018).
Di Donato, N. et al. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Dinckan, N. et al. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A 176, 1015-1022 (2018).
Morimoto, M. et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 103, 794-807 (2018).
Morimoto, M. et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 103, 794-807 (2018).
Morimoto, M. et al. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet 103, 794-807 (2018).
Ghosh, S. G. et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet 103, 431-439 (2018).
Ghosh, S. G. et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet 103, 431-439 (2018).
Wambach, J. A. et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet 103, 968-975 (2018).
Wambach, J. A. et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet 103, 968-975 (2018).
Craiglow, B. G. et al. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. J Am Acad Dermatol 79, 487-494 (2018).
Dolman, L. et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39, 1686-1689 (2018).
Dolman, L. et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39, 1686-1689 (2018).
Dolman, L. et al. ClinGen advancing genomic data-sharing standards as a GA4GH driver project. Hum Mutat 39, 1686-1689 (2018).
Liu, J. et al. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
Lumaka, A. et al. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A 176, 1897-1909 (2018).
Lumaka, A. et al. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A 176, 1897-1909 (2018).
Wiszniewski, W. et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Wiszniewski, W. et al. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Hoang, T. T. et al. The Congenital Heart Disease Genetic Network Study: Cohort description. PLoS One 13, e0191319 (2018).
Oates, E. C. et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
Oates, E. C. et al. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).

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