Amihood Singer

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel et al. · New England Journal of Medicine · 2014 · 690 citations

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects

Jeroen Breckpot, Bernard Thienpont, Hilde Peeters et al. · The Journal of Pediatrics · 2010 · 101 citations

Diagnostic Tool, Medicine, Genetics +10

Characterization of <i>ANGPT2</i> mutations associated with primary lymphedema

Veli‐Matti Leppänen, Pascal Brouillard, Emilia A. Korhonen et al. · Science Translational Medicine · 2020 · 44 citations · Full text

Impact of a national genetic carrier‐screening program for reproductive purposes

Amihood Singer, Lena Sagi‐Dain · Acta Obstetricia Et Gynecologica Scandinavica · 2020 · 42 citations · Full text