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Recent Progress in Synthetic and Natural Catechol-O-methyltransferase Inhibitors for Neurological Disorders Bindra, Sandeep; Datta, Ananya; Yasin, Haya Khader Ahmad; Thomas, Riya Rachel; Verma, Shailesh; Patel, Ankita; Parambi, Della Grace Thomas; Mali, Suraj N.; Rangarajan, T. M.; Mathew, Bijo Share Save
Response to Spurdle et al Riggs, Erin R.; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa L. Share Save
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) (vol 22, pg 245, 2020) Riggs, Erin Rooney; Andersen, Erica F.; Cherry, Athena M.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese Share Save
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings Liu, Qian; Karolak, Justyna A.; Grochowski, Christopher M.; Wilson, Theresa A.; Rosenfeld, Jill A.; Bacino, Carlos A.; Lalani, Seema R.; Patel, Ankita; Breman, Amy; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Bi, Weimin; Stankiewicz, Pawel Share Save
Response to Maya et al. Riggs, Erin Rooney; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese Share Save
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Riggs, Erin Rooney; Andersen, Erica F.; Cherry, Athena M.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese Share Save
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Fountain, Michael D.; Oleson, David S.; Rech, Megan E.; Segebrecht, Lara; Hunter, Jill, V; McCarthy, John M.; Lupo, Philip J.; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A.; Isidor, Bertrand; Le Caignec, Cedric; Saenz, Margarita S.; Pedersen, Robert C.; Morgan, Thomas M.; Pfotenhauer, Jean P.; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Krantz, Ian D.; Raible, Sarah E.; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Milian, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Kury, Sebastien; Bezieau, Stephane; Uguen, Kevin; Ferec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D.; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L.; Taft, Ryan J.; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F.; Horn, Denise; Spillmann, Rebecca C.; Pena, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. Share Save
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (vol 136, pg 377, 2017) Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A.; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M.; Komara, Makanko; Ali, Bassam R.; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S.; Manchester, David K.; Magoulas, Pilar; King, Lauren E.; Hannig, Vickie; Bonneau, Dominique; Denomme-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stephane; Cogne, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A.; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M.; Lupski, James R.; Yang, Yaping; Patel, Ankita; Lalani, Seema R.; Xia, Fan; Stankiewicz, Pawel Share Save
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (vol 100, pg 352, 2017) Kuery, Sebastien; Besnard, Thomas; Ebstein, Frederic; Khan, Tahir N.; Gambin, Tomasz; Douglas, Jessica; Bacino, Carlos A.; Craigen, William J.; Sanders, Stephan J.; Lehmann, Andrea; Latypova, Xenia; Khan, Kamal; Pacault, Mathilde; Sacharow, Stephanie; Glaser, Kimberly; Bieth, Eric; Perrin-Sabourin, Laurence; Jacquemont, Marie-Line; Cho, Megan T.; Roeder, Elizabeth; Denomme-Pichon, Anne-Sophie; Monaghan, Kristin G.; Yuan, Bo; Xia, Fan; Simon, Sylvain; Bonneau, Dominique; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Pasquier, Laurent; Barbouth, Deborah; Shaw, Chad A.; Patel, Ankita; Smith, Janice L.; Bi, Weimin; Schmitt, Sebastien; Deb, Wallid; Nizon, Mathilde; Mercier, Sandra; Vincent, Marie; Rooryck, Caroline; Malan, Valerie; Briceno, Ignacio; Gomez, Alberto; Nugent, Kimberly M.; Gibson, James B.; Cogne, Benjamin; Lupski, James R.; Stessman, Holly A. F.; Eichler, Evan E.; Retterer, Kyle; Yang, Yaping; Redon, Richard; Katsanis, Nicholas; Rosenfeld, Jill A.; Kloetzel, Peter-Michael; Golzio, Christelle; Bezieau, Stephane; Stankiewicz, Pawe; Isidor, Bertrand Share Save
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development Chen, Yiyun; Bartanus, Justin; Liang, Desheng; Zhu, Hongmin; Breman, Amy M.; Smith, Janice L.; Wang, Hua; Ren, Zhilin; Patel, Ankita; Stankiewicz, Pawel; Cram, David S.; Cheung, Sau Wai; Wu, Lingqian; Yu, Fuli Share Save
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M.; Komara, Makanko; Ali, Bassam R.; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S.; Manchester, David K.; Magoulas, Pilar; King, Lauren E.; Hannig, Vickie; Bonneau, Dominique; Denomme-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stphane; Cogne, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A.; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M.; Lupski, James R.; Yang, Yaping; Patel, Ankita; Lalani, Seema R.; Xia, Fan; Stankiewicz, Pawel Share Save
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Mechanisms for Complex Chromosomal Insertions Gu, Shen; Szafranski, Przemyslaw; Akdemir, Zeynep Coban; Yuan, Bo; Cooper, Mitchell L.; Magrina, Maria A.; Bacino, Carlos A.; Lalani, Seema R.; Breman, Amy M.; Smith, Janice L.; Patel, Ankita; Song, Rodger H.; Bi, Weimin; Cheung, Sau Wai; Carvalho, Claudia M. B.; Stankiewicz, Pawel; Lupski, James R. Share Save
The Impact of Highly Reliable Rounding on Use of Inpatient Proton Pump Inhibitors with No Clinical Indication Dibba, Pratima; Patel, Ankita; Mehta, Priya; Wain, Nadeem; Ashraf, Sunya; Allusson, Valerie; Mehta, Bijal; Kwon, Yong; Adamczyk, Richard; Soliman, Isaac Share Save
Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study Cao, Ye; Li, Zhihua; Rosenfeld, Jill A.; Pursley, Amber N.; Patel, Ankita; Huang, Jin; Wang, Huilin; Chen, Min; Sun, Xiaofang; Leung, Tak Yeung; Cheung, Sau Wai; Choy, Kwong Wai Share Save
RETRACTION: Histone deacetylase inhibitors activate NF-κB in human leukemia cells through an ATM/NEMO-related pathway (Retraction of vol 285, pg 10064, 2010) Rosato, Roberto R.; Kolla, Sarah S.; Hock, Stefanie K.; Almenara, Jorge A.; Patel, Ankita; Amin, Sanjay; Atadja, Peter; Fisher, Paul B.; Dent, Paul; Grant, Steven Share Save
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Hao, Yi-Heng; Fountain, Michael D., Jr.; Tacer, Klementina Fon; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Rosenfeld, Jill A.; Le Caignec, Cedric; Isidor, Bertrand; Krantz, Ian D.; Noon, Sarah E.; Pfotenhauer, Jean P.; Morgan, Thomas M.; Moran, Rocio; Pedersen, Robert C.; Saenz, Margarita S.; Schaaf, Christian P.; Potts, Patrick Ryan Share Save
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations Probst, F. J.; James, R. A.; Burrage, L. C.; Rosenfeld, J. A.; Bohan, T. P.; Melver, C. H. Ward; Magoulas, P.; Austin, E.; Franklin, A. I. A.; Azamian, M.; Xia, F.; Patel, A.; Bi, W.; Bacino, C.; Belmont, J. W.; Ware, S. M.; Shaw, C.; Cheung, S. W.; Lalani, S. R. Share Save
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