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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences Bi, Weimin; Yuan, Bo; Liu, Pengfei; Murry, Jaclyn B.; Qin, Xiang; Xia, Fan; Quach, Thao; Cooper, Lance M.; Wiszniewska, Joanna; Hixson, Patricia; Peacock, Sandra; Tonk, Vijay S.; Huff, Robert W.; Ortega, Veronica; Lupski, James R.; Scherer, Steven E.; Littlejohn, Rebecca Okashah; Velagaleti, Gopalrao V. N.; Roeder, Elizabeth R.; Cheung, Sau Wai Share Save
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications Szafranski, Przemyslaw; Golla, Sailaja; Jin, Weihong; Fang, Ping; Hixson, Patricia; Matalon, Reuben; Kinney, Daniel; Bock, Hans-georg; Craigen, William; Smith, Janice L.; Bi, Weimin; Patel, Ankita; Cheung, Sau Wai; Bacino, Carlos A.; Stankiewicz, Pawel Share Save
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases Pham, Justin; Shaw, Chad; Pursley, Amber; Hixson, Patricia; Sampath, Srirangan; Roney, Erin; Gambin, Tomasz; Kang, Sung-Hae L.; Bi, Weimin; Lalani, Seema; Bacino, Carlos; Lupski, James R.; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau-Wai Share Save
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities Wiszniewski, Wojciech; Hunter, Jill V.; Hanchard, Neil A.; Willer, Jason R.; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W.; Patel, Ankita; Campbell, Ian M.; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R.; Azamian, Mahshid S.; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P.; Ramocki, Melissa B.; Santos-Cortez, Regie L. P.; Wang, Gao; York, Michele K.; Justice, Monica J.; Chu, Zili D.; Bader, Patricia I.; Omo-Griffith, Lisa; Madduri, Nirupama S.; Scharer, Gunter; Crawford, Heather P.; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A.; Franklin, Adiaha I. A.; Goin-Kochel, Robin P.; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E.; Stosic, Marija; Williams, Misti D.; Morgan, Thomas M.; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A.; Win, Kay K.; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Chau, Nguyen Van Vinh; Gallagher, Thomas E.; Mutirangura, Apiwat; Stankiewicz, Pawel; Beaudet, Arthur L.; Maletic-Savatic, Mirjana; Rosenfeld, Jill A.; Shaffer, Lisa G.; Davis, Erica E.; Belmont, John W.; Dunstan, Sarah; Simmons, Cameron P.; Bonnen, Penelope E.; Leal, Suzanne M.; Katsanis, Nicholas; Lupski, James R.; Lalani, Seema R. Share Save
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Bi, Weimin; Borgan, Caroline; Pursley, Amber N.; Hixson, Patricia; Shaw, Chad A.; Bacino, Carlos A.; Lalani, Seema R.; Patel, Ankita; Stankiewicz, Pawel; Lupski, James R.; Beaudet, Arthur L.; Cheung, Sau Wai Share Save
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing Wiszniewska, Joanna; Bi, Weimin; Shaw, Chad; Stankiewicz, Pawel; Kang, Sung-Hae L.; Pursley, Amber N.; Lalani, Seema; Hixson, Patricia; Gambin, Tomasz; Tsai, Chun-hui; Bock, Hans-Georg; Descartes, Maria; Probst, Frank J.; Scaglia, Fernando; Beaudet, Arthur L.; Lupski, James R.; Eng, Christine; Cheung, Sau Wai; Bacino, Carlos; Patel, Ankita Share Save
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles Boone, Philip M.; Campbell, Ian M.; Baggett, Brett C.; Soens, Zachry T.; Rao, Mitchell M.; Hixson, Patricia M.; Patel, Ankita; Bi, Weimin; Cheung, Sau Wai; Lalani, Seema R.; Beaudet, Arthur L.; Stankiewicz, Pawel; Shaw, Chad A.; Lupski, James R. Share Save
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A Campbell, Ian M.; Yatsenko, Svetlana A.; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W.; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J.; Nowaczyk, Malgorzata J. M.; Zeesman, Susan; Rosenfeld, Jill A.; Bejjani, Bassem A.; Shaffer, Lisa G.; Cheung, Sau Wai; Lupski, James R.; Stankiewicz, Pawel; Scaglia, Fernando 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
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization Yatsenko, Svetlana A.; Hixson, Patricia; Roney, Erin K.; Scott, Daryl A.; Schaaf, Christian P.; Ng, Yu-tze; Palmer, Robbin; Fisher, Richard B.; Patel, Ankita; Cheung, Sau Wai; Lupski, James R. Share Save
Prenatal array comparative genomic hybridization: when is it indicated and what sample is best? Our experience in over 1000 prenatal cases Cheung, Sau W.; Breman, Amy; Pursley, Amber N.; Hixson, Patricia; Bi, Weimin; Ward, Patricia; Shaw, Chad; Lupski, Jim R.; Van den Veyver, Ignatia; Beaudet, Arthur; Patel, Ankita Share Save
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44 Nagamani, Sandesh C. Sreenath; Erez, Ayelet; Bay, Carolyn; Pettigrew, Anjana; Lalani, Seema R.; Herman, Kristin; Graham, Brett H.; Nowaczyk, Malgorzata J. M.; Proud, Monica; Craigen, William J.; Hopkins, Bobbi; Kozel, Beth; Plunkett, Katie; Hixson, Patricia; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai 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
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