Rebecca Buchert

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert et al. · JAMA Psychiatry · 2017 · 239 citations

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild et al. · The American Journal of Human Genetics · 2011 · 236 citations · Full text

Down Syndrome, Intellectual Impairment, Mendelian Disorder +14

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Rebecca Buchert, Hasan Tawamie, Christopher Smith et al. · The American Journal of Human Genetics · 2014 · 127 citations · Full text

Metabolic Syndrome, Cataracts Due, Metabolic Disorder +9

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Lars Hestbjerg Hansen, Hasan Tawamie, Yoshiko Murakami et al. · The American Journal of Human Genetics · 2013 · 97 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8