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Search Results - Pounraja, Vijay Kumar
Search Results - Pounraja, Vijay Kumar
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Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis
by
Pizzo, Lucilla
,
Lasser, Micaela
,
Yusuff, Tanzeen
,
Jensen, Matthew
,
Ingraham, Phoebe
,
Huber, Emily
,
Singh, Mayanglambam Dhruba
,
Monahan, Connor
,
Iyer, Janani
,
Desai, Inshya
,
Karthikeyan, Siddharth
,
Gould, Dagny J
,
Yennawar, Sneha
,
Weiner, Alexis T
,
Pounraja, Vijay Kumar
,
Krishnan, Arjun
,
Rolls, Melissa M
,
Lowery, Laura Anne
,
Girirajan, Santhosh
Published in
PLoS genetics
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A machine-learning approach for accurate detection of copy number variants from exome sequencing
by
Pounraja, Vijay Kumar
,
Jayakar, Gopal
,
Jensen, Matthew
,
Kelkar, Neil
,
Girirajan, Santhosh
Published in
Genome research
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Molecular basis for phenotypic similarity of genetic disorders
by
Pounraja, Vijay Kumar
,
Girirajan, Santhosh
Published in
Genome medicine
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A general framework for identifying oligogenic combinations of rare variants in complex disorders
by
Pounraja, Vijay Kumar
,
Girirajan, Santhosh
Published in
Genome research
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A large meta-analysis identifies genes associated with anterior uveitis
by
Gelfman, Sahar
,
Moscati, Arden
,
Huergo, Santiago Mendez
,
Wang, Rujin
,
Rajagopal, Veera
,
Parikshak, Neelroop
,
Pounraja, Vijay Kumar
,
Chen, Esteban
,
Leblanc, Michelle
,
Hazlewood, Ralph
,
Freudenberg, Jan
,
Cooper, Blerta
,
Ligocki, Ann J
,
Miller, Charles G
,
Van Zyl, Tavé
,
Weyne, Jonathan
,
Romano, Carmelo
,
Sagdullaev, Botir
,
Melander, Olle
,
Baras, Aris
,
Stahl, Eli A
,
Coppola, Giovanni
Published in
Nature communications
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The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
by
Pizzo, Lucilla
,
Jensen, Matthew
,
Tyryshkina, Anastasia
,
Smolen, Corrine
,
Taylor, Cora
,
Rohan, Laura
,
Huber, Emily
,
Snell, Penny
,
Pope, Kate
,
Pounraja, Vijay Kumar
,
Rosenfeld, Jill
,
McCready, Elizabeth
,
Zeesman, Susan
,
Nowaczyk, Małgorzata
,
Schwartz, Charles
,
Keren, Boris
,
Perrine, Charles
,
Prontera, Paolo
,
Van Dijck, Anke
,
Kooy, Frank
,
Caberg, Jean-Hubert
,
Voorhoeve, Els
,
Banka, Siddharth
,
Sistermans, Erik
,
Marle, Nathalie
,
Renieri, Alessandra
,
Martin-Coignard, Dominique
,
Isidor, Bertrand
,
Reymond, Alexandre
,
Mannik, Katrin
,
Andrieux, Joris
,
Amor, David
,
Romano, Corrado
,
Girirajan, Santhosh
Published in
Molecular genetics and metabolism
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OP099 - The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
by
Pizzo, Lucilla
,
Jensen, Matthew
,
Tyryshkina, Anastasia
,
Smolen, Corrine
,
Taylor, Cora
,
Rohan, Laura
,
Huber, Emily
,
Snell, Penny
,
Pope, Kate
,
Pounraja, Vijay Kumar
,
Rosenfeld, Jill
,
McCready, Elizabeth
,
Zeesman, Susan
,
Nowaczyk, Małgorzata
,
Schwartz, Charles
,
Keren, Boris
,
Perrine, Charles
,
Prontera, Paolo
,
Van Dijck, Anke
,
Kooy, Frank
,
Caberg, Jean-Hubert
,
Voorhoeve, Els
,
Banka, Siddharth
,
Sistermans, Erik
,
Marle, Nathalie
,
Renieri, Alessandra
,
Martin-Coignard, Dominique
,
Isidor, Bertrand
,
Reymond, Alexandre
,
Mannik, Katrin
,
Andrieux, Joris
,
Amor, David
,
Romano, Corrado
,
Girirajan, Santhosh
Published in
Molecular genetics and metabolism
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