Rachel Slaugh

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

Patrick Tarpey, F. Lucy Raymond, Sarah O’Meara et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

Tugce Pehlivan, Barbara R. Pober, Martina Brueckner et al. · American Journal of Medical Genetics · 1999 · 189 citations

Life Sciences, Genetics, Molecular Genetics +16

Deletion Within Chromosome 22 is Common in Patients With Absent Pulmonary Valve Syndrome

Mark C. Johnson, Arnold W. Strauss, S. Bruce Dowton et al. · The American Journal of Cardiology · 1995 · 78 citations

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +13

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

J C Brackett, Harold F. Sims, Robert D. Steiner et al. · Journal of Clinical Investigation · 1994 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17