Elena Chervinsky

A non‐sense <i><scp>MCM9</scp></i> mutation in a familial case of primary ovarian insufficiency

Fabien Fauchereau, Stavit A. Shalev, Elena Chervinsky et al. · Clinical Genetics · 2016 · 74 citations

Primary Ovarian Insufficiency, Mendelian Disorder, Short Stature +13

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

Siddharth Banka, Elena Chervinsky, William G. Newman et al. · European Journal of Human Genetics · 2010 · 55 citations · Full text

Genetic Disorder, Genetics, Further Delineation +7

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Boris Fichtman, Fadia Zagairy, Nitzan Biran et al. · Nature Communications · 2019 · 50 citations · Full text

<scp>DMRTA2</scp> (<scp><i>DMRT5</i></scp>) is mutated in a novel cortical brain malformation

Jill Urquhart, Glenda M. Beaman, Helen Byers et al. · Clinical Genetics · 2016 · 34 citations

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Ben Cohen, Elena Chervinsky, Haneen Jabaly-Habib et al. · PubMed · 2012 · 29 citations · Full text