Not logged in 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
Identification of novel candidate disease genes from de novo exonic copy number variants Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Pursley, Amber N.; Nagamani, Sandesh C. S.; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G.; Matalon, Reuben; Emrick, Lisa; Proud, Monica B.; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R.; Nugent, Kimberly M.; Bader, Patricia I.; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E.; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P.; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L.; Lalani, Seema R.; Bacino, Carlos A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Patel, Ankita; Shaw, Chad A.; Stankiewicz, Pawel Share Save
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders Campbell, Ian M.; Yuan, Bo; Robberecht, Caroline; Pfundt, Rolph; Szafranski, Przemyslaw; McEntagart, Meriel E.; Nagamani, Sandesh C. S.; Erez, Ayelet; Bartnik, Magdalena; Wisniowiecka-Kowanik, Barbara; Plunkett, Katie S.; Pursley, Amber N.; Kang, Sung-Hae L.; Bi, Weimin; Lalani, Seema R.; Bacino, Carlos A.; Vast, Mala; Marks, Karen; Patton, Michael; Olofsson, Peter; Patel, Ankita; Veltman, Joris A.; Cheung, Sau Wai; Shaw, Chad A.; Vissers, Lisenka E. L. M.; Vermeesch, Joris R.; Lupski, James R.; Stankiewicz, Pawel Share Save
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 Peddibhotla, Sirisha; Nagamani, Sandesh C. S.; Erez, Ayelet; Hunter, Jill V.; Holder, J. Lloyd, Jr.; Carlin, Mary E.; Bader, Patricia I.; Perras, Helene M. F.; Allanson, Judith E.; Newman, Leslie; Simpson, Gayle; Immken, LaDonna; Powell, Erin; Mohanty, Aaron; Kang, Sung-Hae L.; Stankiewicz, Pawel; Bacino, Carlos A.; Bi, Weimin; Patel, Ankita; Cheung, Sau W. Share Save
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits Dittwald, Piotr; Gambin, Tomasz; Szafranski, Przemyslaw; Li, Jian; Amato, Stephen; Divon, Michael Y.; Rodriguez Rojas, Lisa Ximena; Elton, Lindsay E.; Scott, Daryl A.; Schaaf, Christian P.; Torres-Martinez, Wilfredo; Stevens, Abby K.; Rosenfeld, Jill A.; Agadi, Satish; Francis, David; Kang, Sung-Hae L.; Breman, Amy; Lalani, Seema R.; Bacino, Carlos A.; Bi, Weimin; Milosavljevic, Aleksandar; Beaudet, Arthur L.; Patel, Ankita; Shaw, Chad A.; Lupski, James R.; Gambin, Anna; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Lalani, Seema R.; Shaw, Chad; Wang, Xueqing; Patel, Ankita; Patterson, Lance W.; Kolodziejska, Katarzyna; Szafranski, Przemyslaw; Ou, Zhishuo; Tian, Qi; Kang, Sung-Hae L.; Jinnah, Amina; Ali, Sophia; Malik, Aamir; Hixson, Patricia; Potocki, Lorraine; Lupski, James R.; Stankiewicz, Pawel; Bacino, Carlos A.; Dawson, Brian; Beaudet, Arthur L.; Boricha, Fatima M.; Whittaker, Runako; Li, Chumei; Ware, Stephanie M.; Cheung, Sau Wai; Penny, Daniel J.; Jefferies, John Lynn; Belmont, John W. Share Save
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions Schaaf, Christian P.; Boone, Philip M.; Sampath, Srirangan; Williams, Charles; Bader, Patricia I.; Mueller, Jennifer M.; Shchelochkov, Oleg A.; Brown, Chester W.; Crawford, Heather P.; Phalen, James A.; Tartaglia, Nicole R.; Evans, Patricia; Campbell, William M.; Tsai, Anne Chun-Hui; Parsley, Lea; Grayson, Stephanie W.; Scheuerle, Angela; Luzzi, Carol D.; Thomas, Sandra K.; Eng, Patricia A.; Kang, Sung-Hae L.; Patel, Ankita; Stankiewicz, Pawel; Cheung, Sau W. Share Save
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Ou, Zhishuo; Stankiewicz, Pawel; Xia, Zhilian; Breman, Amy M.; Dawson, Brian; Wiszniewska, Joanna; Szafranski, Przemyslaw; Cooper, M. Lance; Rao, Mitchell; Shao, Lina; South, Sarah T.; Coleman, Karlene; Fernhoff, Paul M.; Deray, Marcel J.; Rosengren, Sally; Roeder, Elizabeth R.; Enciso, Victoria B.; Chinault, A. Craig; Patel, Ankita; Kang, Sung-Hae L.; Shaw, Chad A.; Lupski, James R.; Cheung, Sau W. Share Save
Phenotypic manifestations of copy number variation in chromosome 16p13.11 Nagamani, Sandesh C. Sreenath; Erez, Ayelet; Bader, Patricia; Lalani, Seema R.; Scott, Daryl A.; Scaglia, Fernando; Plon, Sharon E.; Tsai, Chun-Hui; Reimschisel, Tyler; Roeder, Elizabeth; Malphrus, Amy D.; Eng, Patricia A.; Hixson, Patricia M.; Kang, Sung-Hae L.; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai Share Save
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH Boone, Philip M.; Bacino, Carlos A.; Shaw, Chad A.; Eng, Patricia A.; Hixson, Patricia M.; Pursley, Amber N.; Kang, Sung-Hae L.; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A.; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L.; Gibson, James B.; Tsai, Anne C. -H.; Bowers, Jennifer A.; Reimschisel, Tyler E.; Schaaf, Christian P.; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R.; Probst, Frank J.; Bi, Weimin; Beaudet, Arthur L.; Patel, Ankita; Lupski, James R.; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics Shao, Lina; Kang, Sung-Hae L.; Li, Jian; Hixson, Patricia; Taylor, Jesalyn; Yatsenko, Svetlana A.; Shaw, Chad A.; Milosavljevic, Aleksandar; Chang, Chung-Che; Cheung, Sau Wai; Patel, Ankita Share Save
Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological? Szafranski, Przemyslaw; Schaaf, Christian P.; Person, Richard E.; Gibson, Ian B.; Xia, Zhilian; Mahadevan, Sangeetha; Wiszniewska, Joanna; Bacino, Carlos A.; Lalani, Seema; Potocki, Lorraine; Kang, Sung-Hae; Patel, Ankita; Cheung, Sau Wai; Probst, Frank J.; Graham, Brett H.; Shinawi, Marwan; Beaudet, Arthur L.; Stankiewicz, Pawel Share Save
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis Lu, Xin-Yan; Phung, Mai T.; Shaw, Chad A.; Pham, Kim; Neil, Sarah E.; Patel, Ankita; Sahoo, Trilochan; Bacino, Carlos A.; Stankiewicz, Pawel; Kang, Sung-Hae Lee; Lalani, Seema; Chinault, A. Craig; Lupski, James R.; Cheung, Sau W.; Beaudet, Arthur L. Share Save
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities Brunetti-Pierri, Nicola; Berg, Jonathan S.; Scaglia, Fernando; Belmont, John; Bacino, Carlos A.; Sahoo, Trilochan; Lalani, Seema R.; Graham, Brett; Lee, Brendan; Shinawi, Marwan; Shen, Joseph; Kang, Sung-Hae L.; Pursley, Amber; Lotze, Timothy; Kennedy, Gail; Lansky-Shafer, Susan; Weaver, Christine; Roeder, Elizabeth R.; Grebe, Theresa A.; Arnold, Georgianne L.; Hutchison, Terry; Reimschisel, Tyler; Amato, Stephen; Geragthy, Michael T.; Innis, Jeffrey W.; Obersztyn, Ewa; Nowakowska, Beata; Rosengren, Sally S.; Bader, Patricia I.; Grange, Dorothy K.; Naqvi, Sayed; Garnica, Adolfo D.; Bernes, Saunder M.; Fong, Chin-To; Summers, Anne; Walters, W. David; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita Share Save
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region Berg, Jonathan S.; Brunetti-Pierri, Nicola; Peters, Sarika U.; Kang, Sung-Hae L.; Fong, Chin-to; Salamone, Jessica; Freedenberg, Debra; Hannig, Vickie L.; Prock, Lisa Albers; Miller, David T.; Raffalli, Peter; Harris, David J.; Erickson, Robert P.; Cunniff, Christopher; Clark, Gary D.; Blazo, Maria A.; Peiffer, Daniel A.; Gunderson, Kevin L.; Sahoo, Trilochan; Patel, Ankita; Lupski, James R.; Beaudet, Arthur L.; Cheung, Sau Wai Share Save
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