M.J. Hajianpour

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Anaïs Begemann, Heinrich Sticht, Amber Begtrup et al. · Genetics in Medicine · 2020 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases

Wei-Tong Hsu, Dmitriy A. Shchepin, Rong Mao et al. · American Journal of Medical Genetics · 1998 · 42 citations

Medicine, Genetics, Obstetrics +17

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Christine Shieh, Natasha Jones, Brigitte Vanle et al. · Genetics in Medicine · 2020 · 34 citations · Full text

Medicine, Developmental Biology, Molecular Genetics +14

Molecular cytogenetic characterization of 18;21 whole arm translocation associated with monosomy 18p

Jin-Chen C. Wang, Lakshmi J. Nemana, Shi-Ying Kou et al. · American Journal of Medical Genetics · 1997 · 22 citations

Life Sciences, Genetics, Molecular Genetics +13

<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Arthur Stefanski, Eduardo Pérez‐Palma, Tobias Brünger et al. · Brain · 2023 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15