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npj genomic medicine

Indexings
ncbi ulakbim sci
Short Name npj genom med
Abbreviated Name npj genom med
ISSN 2056-7944
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Publications Per Year

Recent Articles (2 total)

2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in .
Steward, Charles A;Roovers, Jolien;Suner, Marie-Marthe;Gonzalez, Jose M;Uszczynska-Ratajczak, Barbara;Pervouchine, Dmitri;Fitzgerald, Stephen;Viola, Margarida;Stamberger, Hannah;Hamdan, Fadi F;Ceulemans, Berten;Leroy, Patricia;Nava, Caroline;Lepine, Anne;Tapanari, Electra;Keiller, Don;Abbs, Stephen;Sanchis-Juan, Alba;Grozeva, Detelina;Rogers, Anthony S;Diekhans, Mark;Guigó, Roderic;Petryszak, Robert;Minassian, Berge A;Cavalleri, Gianpiero;Vitsios, Dimitrios;Petrovski, Slavé;Harrow, Jennifer;Flicek, Paul;Lucy Raymond, F;Lench, Nicholas J;Jonghe, Peter De;Mudge, Jonathan M;Weckhuysen, Sarah;Sisodiya, Sanjay M;Frankish, Adam;
Vol. 4 , pp. 31
232 views DOI Abstract
2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Feliciano, Pamela;Zhou, Xueya;Astrovskaya, Irina;Turner, Tychele N;Wang, Tianyun;Brueggeman, Leo;Barnard, Rebecca;Hsieh, Alexander;Snyder, LeeAnne Green;Muzny, Donna M;Sabo, Aniko;, ;Gibbs, Richard A;Eichler, Evan E;O'Roak, Brian J;Michaelson, Jacob J;Volfovsky, Natalia;Shen, Yufeng;Chung, Wendy K;
Vol. 4 , pp. 19
215 views DOI Abstract
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