Leona Fishman

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 282 citations

Ketoconazole in the Management of Precocious Puberty Not Responsive to LHRH-Analogue Therapy

F John Holland, Leona Fishman, John D. Bailey et al. · New England Journal of Medicine · 1985 · 111 citations

Growth Velocity, Endocrine Mechanism, Human Growth +14

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson et al. · Genetics in Medicine · 2012 · 61 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +10

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

Andrea C. Stachon, Berivan Baskin, Adam C. Smith et al. · American Journal of Medical Genetics Part A · 2007 · 55 citations

Molecular Diagnosis, Genetic Testing, Genetics +21