Thomas Scholl

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

Life Sciences, Genetics, Obstetrics +17

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Elaine A. Sugarman, Narasimhan Nagan, Hui Zhu et al. · European Journal of Human Genetics · 2011 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical Characteristics of Individuals With Germline Mutations in <i>BRCA1</i> and <i>BRCA2</i>: Analysis of 10,000 Individuals

Amie M. Deffenbaugh, Julia Reid, Mark Hulick et al. · Journal of Clinical Oncology · 2002 · 558 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>BRCA1</i> and <i>BRCA2</i> mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer

Michael J. Hall, Julia Reid, Lynn Anne Burbidge et al. · Cancer · 2009 · 373 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The human sex ratio from conception to birth

Steven Hecht Orzack, J. William Stubblefield, Viatcheslav R. Akmaev et al. · Proceedings of the National Academy of Sciences · 2015 · 287 citations · Full text

Medicine, Developmental Biology, Obstetrics +14