Helga V. Toriello

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian et al. · The American Journal of Human Genetics · 2010 · 297 citations · Full text

Genetic Disorder, Genetics, Developmental Delays +5

Holoprosencephaly in infants of diabetic mothers

Mason Barr, James W. Hanson, Kathleen M. Currey et al. · The Journal of Pediatrics · 1983 · 218 citations

Medicine, Diabetes, Pediatrics +4

Statement on guidance for genetic counseling in advanced paternal age

Helga V. Toriello, Jeanne Meck · Genetics in Medicine · 2008 · 191 citations · Full text

Reproductive Genetic Counseling, Family Medicine, Counseling +11

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

Juliane Ramser, Fatima Abidi, Céline Burcklé et al. · Human Molecular Genetics · 2005 · 181 citations

Genetics, Epilepsy Points, Renin Receptor Gene +17