Marybeth Hummel

A copy number variation morbidity map of developmental delay

Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan et al. · Nature Genetics · 2011 · 1.4K citations · Full text

Medicine, Genetics, Cognitive Development +6

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Shay Ben‐Shachar, Zhishuo Ou, Chad A. Shaw et al. · The American Journal of Human Genetics · 2008 · 244 citations · Full text

Distal Deletion, Digeorge Syndrome, Genetic Disorder +9

Molecular and phenotypic characterization of ring chromosome 22

Aaron R. Jeffries, Sarah Curran, Frances Elmslie et al. · American Journal of Medical Genetics Part A · 2005 · 102 citations

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

Telomerase activity in bladder cancer, bladder washings and in urine

M. Müller, B Heine, R. Heicappell et al. · International Journal of Oncology · 1996 · 50 citations

Urological Research, Urology, Urologic Cancer Epidemiology +9