Search Results - "Bhalla, Sanjiv K"

A novel mutation in EED associated with overgrowth by Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T

“…In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation…”
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Rare SUZ12 variants commonly cause an overgrowth phenotype by Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.

“…The Polycomb repressive complex 2 is an epigenetic writer and recruiter with a role in transcriptional silencing. Constitutional pathogenic variants in its…”
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Corrigendum: A novel mutation in EED associated with overgrowth by Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T

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Correction: Corrigendum: A novel mutation in EED associated with overgrowth by Cohen, Ana S A, Tuysuz, Beyhan, Shen, Yaoqing, Bhalla, Sanjiv K, Jones, Steven J M, Gibson, William T

“…Correction to: Journal of Human Genetics (2015) 60, 339–342; doi:10.1038/jhg.2015.26; published online 19 March 2015 Since the publication of the above…”
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