Kamer Tezcan

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Chloé Saunier, Svein I. Støve, Bernt Popp et al. · Human Mutation · 2016 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Jeff M. Milunsky, Tom M. Maher, Geping Zhao et al. · American Journal of Medical Genetics Part A · 2010 · 67 citations

Life Sciences, Genetics, Molecular Genetics +15

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Rhonda E. Schnur, Mei Gao, Penelope A. Wick et al. · The American Journal of Human Genetics · 1998 · 64 citations · Full text

Medicine, Genetics, Ophthalmology +14

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

S. Harvey Mudd, Nancy Braverman, Martin G. Pomper et al. · Molecular Genetics and Metabolism · 2003 · 55 citations

Medicine, Biochemistry, Pediatrics +16