Not logged in Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome Carvalho, Claudia M. B.; Coban-Akdemir, Zeynep; Hijazi, Hadia; Yuan, Bo; Pendleton, Matthew; Harrington, Eoghan; Beaulaurier, John; Juul, Sissel; Turner, Daniel J.; Kanchi, Rupa S.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Stankiewicz, Pawel; Belmont, John W.; Shaw, Chad A.; Cheung, Sau Wai; Hanchard, Neil A.; Sutton, V. Reid; Bader, Patricia I.; Lupski, James R. 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
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications (vol 47, pg 549, 2017) Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P. Share Save
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications Gillentine, M. A.; Berry, L. N.; Goin-Kochel, R. P.; Ali, M. A.; Ge, J.; Guffey, D.; Rosenfeld, J. A.; Hannig, V.; Bader, P.; Proud, M.; Shinawi, M.; Graham, B. H.; Lin, A.; Lalani, S. R.; Reynolds, J.; Chen, M.; Grebe, T.; Minard, C. G.; Stankiewicz, P.; Beaudet, A. L.; Schaaf, C. P. Share Save
The complex behavioral phenotype of 15q13.3 microdeletion syndrome Ziats, Mark N.; Goin-Kochel, Robin P.; Berry, Leandra N.; Ali, May; Ge, Jun; Guffey, Danielle; Rosenfeld, Jill A.; Bader, Patricia; Gambello, Michael J.; Wolf, Varina; Penney, Lynette S.; Miller, Ryan; Lebel, Robert Roger; Kane, Jeffrey; Bachman, Kristine; Troxell, Robin; Clark, Gary; Minard, Charles G.; Stankiewicz, Pawel; Beaudet, Arthur; Schaaf, Christian P. Share Save
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene Ishibashi, Minaka; Manning, Elizabeth; Shoubridge, Cheryl; Krecsmarik, Monika; Hawkins, Thomas A.; Giacomotto, Jean; Zhao, Ting; Mueller, Thomas; Bader, Patricia I.; Cheung, Sau W.; Stankiewicz, Pawel; Bain, Nicole L.; Hackett, Anna; Reddy, Chilamakuri C. S.; Mechaly, Alejandro S.; Peers, Bernard; Wilson, Stephen W.; Lenhard, Boris; Bally-Cuif, Laure; Gecz, Jozef; Becker, Thomas S.; Rinkwitz, Silke Share Save
A copy number variation morbidity map of developmental delay (vol 43, pg 838, 2011) Cooper, Gregory M.; Coe, Bradley P.; Girirajan, Santhosh; Rosenfeld, Jill A.; Vu, Tiffany H.; Baker, Carl; Williams, Charles; Stalker, Heather; Hamid, Rizwan; Hannig, Vickie; Abdel-Hamid, Hoda; Bader, Patricia; McCracken, Elizabeth; Niyazov, Dmitriy; Leppig, Kathleen; Thiese, Heidi; Hummel, Marybeth; Alexander, Nora; Gorski, Jerome; Kussmann, Jennifer; Shashi, Vandana; Johnson, Krys; Rehder, Catherine; Ballif, Blake C.; Shaffer, Lisa G.; Eichler, Evan E. 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
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree Soler-Alfonso, Claudia; Carvalho, Claudia M. B.; Ge, Jun; Roney, Erin K.; Bader, Patricia I.; Kolodziejska, Katarzyna E.; Miller, Rachel M.; Lupski, James R.; Stankiewicz, Pawel; Cheung, Sau Wai; Bi, Weimin; Schaaf, Christian P. Share Save
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes Lionel, Anath C.; Tammimies, Kristiina; Vaags, Andrea K.; Rosenfeld, Jill A.; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K.; Pillalamarri, Vamsee K.; Carter, Melissa T.; Gazzellone, Matthew J.; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W.; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C.; Leather, Susan; Trounce, John; Bedford, H. Melanie; Hatchwell, Eli; Eis, Peggy S.; Yuen, Ryan K. C.; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T.; Nikkel, Sarah M.; Tomiak, Eva M.; Fernandez, Bridget A.; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D.; Schachar, Russell J.; Roberts, Wendy; Paterson, Andrew D.; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Lowry, R. Brian; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; MacDonald, Jeffrey R.; Howe, Jennifer L.; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S.; Wilks, Timothy M.; Sorensen, Mark J.; Bader, Patricia I.; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M.; Della Monica, Matteo; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C.; Talkowski, Michael E.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Scherer, Stephen W. 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
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus Beunders, Gea; Voorhoeve, Els; Golzio, Christelle; Pardo, Luba M.; Rosenfeld, Jill A.; Talkowski, Michael E.; Simonic, Ingrid; Lionel, Anath C.; Vergult, Sarah; Pyatt, Robert E.; van de Kamp, Jiddeke; Nieuwint, Aggie; Weiss, Marjan M.; Rizzu, Patrizia; Verwer, Lucilla E. N. I.; van Spaendonk, Rosalina M. L.; Shen, Yiping; Wu, Bai-lin; Yu, Tingting; Yu, Yongguo; Chiang, Colby; Gusella, James F.; Lindgren, Amelia M.; Morton, Cynthia C.; van Binsbergen, Ellen; Bulk, Saskia; van Rossem, Els; Vanakker, Olivier; Armstrong, Ruth; Park, Soo-Mi; Greenhalgh, Lynn; Maye, Una; Neill, Nicholas J.; Abbott, Kristin M.; Sell, Susan; Ladda, Roger; Farber, Darren M.; Bader, Patricia I.; Cushing, Tom; Drautz, Joanne M.; Konczal, Laura; Nash, Patricia; de Los Reyes, Emily; Carter, Melissa T.; Hopkins, Elizabeth; Marshall, Christian R.; Osborne, Lucy R.; Gripp, Karen W.; Thrush, Devon Lamb; Hashimoto, Sayaka; Gastier-Foster, Julie M.; Astbury, Caroline; Ylstra, Bauke; Meijers-Heijboer, Hanne; Posthuma, Danielle; Menten, Bjoern; Mortier, Geert; Scherer, Stephen W.; Eichler, Evan E.; Girirajan, Santhosh; Katsanis, Nicholas; Groffen, Alexander J.; Sistermans, Erik A. 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
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148 Dharmadhikari, Avinash V.; Kang, Sung-Hae L.; Szafranski, Przemyslaw; Person, Richard E.; Sampath, Srirangan; Prakash, Siddharth K.; Bader, Patricia I.; Phillips, John A., III; Hannig, Vickie; Williams, Misti; Vinson, Sherry S.; Wilfong, Angus A.; Reimschisel, Tyler E.; Craigen, William J.; Patel, Ankita; Bi, Weimin; Lupski, James R.; Belmont, John; Cheung, Sau Wai; Stankiewicz, Pawel Share Save
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features Lamb, Allen N.; Rosenfeld, Jill A.; Neill, Nicholas J.; Talkowski, Michael E.; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I.; Rosenbaum, Kenneth; Vallee, Stephanie E.; Moeschler, John B.; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C.; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andree; Heron-Longe, Benedicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M.; Opheim, Kent E.; Descartes, Maria; Eichler, Evan E.; Morton, Cynthia C.; Gusella, James F.; Schultz, Roger A.; Ballif, Blake C.; Shaffer, Lisa G. Share Save
MECP2 duplications in six patients with complex sex chromosome rearrangements (vol 19, pg 409, 2010) Breman, Amy M.; Ramocki, Melissa B.; Kang, Sung-Hae L.; Williams, Misti; Freedenberg, Debra; Patel, Ankita; Bader, Patricia I.; Cheung, Sau Wai Share Save
A copy number variation morbidity map of developmental delay Cooper, Gregory M.; Coe, Bradley P.; Girirajan, Santhosh; Rosenfeld, Jill A.; Vu, Tiffany H.; Baker, Carl; Williams, Charles; Stalker, Heather; Hamid, Rizwan; Hannig, Vickie; Abdel-Hamid, Hoda; Bader, Patricia; McCracken, Elizabeth; Niyazov, Dmitriy; Leppig, Kathleen; Thiese, Heidi; Hummel, Marybeth; Alexander, Nora; Gorski, Jerome; Kussmann, Jennifer; Shashi, Vandana; Johnson, Krys; Rehder, Catherine; Ballif, Blake C.; Shaffer, Lisa G.; Eichler, Evan E. Share Save
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 Ballif, Blake C.; Rosenfeld, Jill A.; Traylor, Ryan; Theisen, Aaron; Bader, Patricia I.; Ladda, Roger L.; Sell, Susan L.; Steinraths, Michelle; Surti, Urvashi; McGuire, Marianne; Williams, Shelley; Farrell, Sandra A.; Filiano, James; Schnur, Rhonda E.; Covey, Lauren B.; Tervo, Raymond C.; Stroud, Tracy; Marble, Michael; Netzloff, Michael; Hanson, Kristen; Aylsworth, Arthur S.; Bamforth, J. S.; Babu, Deepti; Niyazov, Dmitriy M.; Ravnan, J. Britt; Schultz, Roger A.; Lamb, Allen N.; Torchia, Beth S.; Bejjani, Bassem A.; Shaffer, Lisa G. 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
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