Melissa Maisenbacher

Genomic Imbalance in Products of Conception

Brynn Levy, Styrmir Sigurjonsson, B. Pettersen et al. · Obstetrics and Gynecology · 2014 · 244 citations

Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol J. Gallione, Arthur S. Aylsworth, Jill Beis et al. · American Journal of Medical Genetics Part A · 2010 · 147 citations

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Sulagna C. Saitta, Stacy E. Harris, Ann P. Gaeth et al. · Human Molecular Genetics · 2003 · 145 citations · Full text

Cytogenetics, Genetics, Molecular Biology +19

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Sandy Hsu, Renee Sears, Roberta R. Lemos et al. · Neurogenetics · 2013 · 145 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +8

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

Amy E. Roberts, Connie S. Nixon, Colin G. Steward et al. · American Journal of Medical Genetics Part A · 2012 · 141 citations