57 Publications (Page 2 of 3)
2017
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 and Stankiewicz, Paweł
Genome medicine, vol. 9, (no. 1), pp. 83, 2017-09-21. | Journal Article
 
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Petersen, Andrea K⋅Cheung, Sau Wai⋅Smith, Janice L⋅Bi, Weimin⋅Ward, Patricia A⋅Peacock, Sandra⋅Braxton, Alicia⋅Van Den Veyver, Ignatia B and Breman, Amy M
American Journal of Obstetrics and Gynecology, vol. 217, (no. 6), pp. 691.e6, December 2017. | Journal Article
2016
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions
Bi, Weimin⋅Cheung, Sau‐Wai⋅Breman, Amy M and Bacino, Carlos A
American Journal of Medical Genetics Part A, vol. 170, (no. 10), pp. 2550, October 2016. | Journal Article
 
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells
Normand, Elizabeth⋅Qdaisat, Sadeem⋅Bi, Weimin⋅Shaw, Chad⋅Van den Veyver, Ignatia⋅Beaudet, Arthur and Breman, Amy
Prenatal Diagnosis, vol. 36, (no. 9), pp. 830, September 2016. | Journal Article
 
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing
Breman, Amy M⋅Breman, Amy M⋅Chow, Jennifer C⋅Chow, Jennifer C⋅U'Ren, Lance⋅U'Ren, Lance⋅Normand, Elizabeth A⋅Normand, Elizabeth A⋅Qdaisat, Sadeem⋅Qdaisat, Sadeem⋅Zhao, Li⋅Zhao, Li⋅Henke, David M⋅Henke, David M⋅Chen, Rui⋅Chen, Rui⋅Shaw, Chad A⋅Shaw, Chad A⋅Jackson, Laird⋅Jackson, Laird⋅Yang, Yaping⋅Yang, Yaping⋅Vossaert, Liesbeth⋅Vossaert, Liesbeth⋅Needham, Rachel H. V⋅Needham, Rachel H V⋅Chang, Elizabeth J⋅Chang, Elizabeth J⋅Campton, Daniel⋅Campton, Daniel⋅Werbin, Jeffrey L⋅Werbin, Jeffrey L⋅Seubert, Ron C⋅Seubert, Ron C⋅Van den Veyver, Ignatia B⋅Van den Veyver, Ignatia B⋅Stilwell, Jackie L⋅Stilwell, Jackie L⋅Kaldjian, Eric P⋅Kaldjian, Eric P⋅Beaudet, Arthur L and Beaudet, Arthur L
Prenatal Diagnosis, vol. 36, (no. 11), pp. 1019, November 2016. | Journal Article
 
Genome‐wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women
Kølvraa, Steen⋅Kølvraa, Steen⋅Singh, Ripudaman⋅Singh, Ripudaman⋅Normand, Elizabeth A⋅Normand, Elizabeth A⋅Qdaisat, Sadeem⋅Qdaisat, Sadeem⋅Veyver, Ignatia B⋅Van denVeyver, Ignatia B⋅Jackson, Laird⋅Jackson, Laird⋅Hatt, Lotte⋅Hatt, Lotte⋅Schelde, Palle⋅Schelde, Palle⋅Uldbjerg, Niels⋅Uldbjerg, Niels⋅Vestergaard, Else Marie⋅Vestergaard, Else Marie⋅Zhao, Li⋅Zhao, Li⋅Chen, Rui⋅Chen, Rui⋅Shaw, Chad A⋅Shaw, Chad A⋅Breman, Amy M⋅Breman, Amy M⋅Beaudet, Arthur L and Beaudet, Arthur L
Prenatal Diagnosis, vol. 36, (no. 12), pp. 1134, December 2016. | Journal Article
 
Mechanisms for Complex Chromosomal Insertions
Gu, Shen⋅Gu, Shen⋅Szafranski, Przemyslaw⋅Szafranski, Przemyslaw⋅Akdemir, Zeynep⋅Akdemir, Zeynep Coban⋅Yuan, Bo⋅Yuan, Bo⋅Cooper, Mitchell L⋅Cooper, Mitchell⋅Magriñá, Maria A⋅Magriñá, Maria⋅Bacino, Carlos⋅Bacino, Carlos A⋅Lalani, Seema⋅Lalani, Seema R⋅Breman, Amy⋅Breman, Amy M⋅Smith, Janice L⋅Smith, Janice⋅Patel, Ankita⋅Patel, Ankita⋅Song, Rodger⋅Song, Rodger H⋅Bi, Weimin⋅Bi, Weimin⋅Cheung, Sau Wai⋅Cheung, Sau⋅Carvalho, Claudia⋅Carvalho, Claudia M B⋅Stankiewicz, Pawel⋅Stankiewicz, Paweł⋅Lupski, James and Lupski, James R
PLoS genetics, vol. 12, (no. 11), pp. e1006446, 2016-Nov. | Journal Article
 
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive
Posey, Jennifer E⋅Posey, Jennifer E⋅Mohrbacher, Nikki⋅Mohrbacher, Nikki⋅Smith, Janice L⋅Smith, Janice L⋅Patel, Ankita⋅Patel, Ankita⋅Potocki, Lorraine⋅Potocki, Lorraine⋅Breman, Amy M and Breman, Amy M
American Journal of Medical Genetics Part A, vol. 170, (no. 3), pp. 698, March 2016. | Journal Article
2015
High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining
Campton, Daniel E⋅Ramirez, Arturo B⋅Nordberg, Joshua J⋅Drovetto, Nick⋅Clein, Alisa C⋅Varshavskaya, Paulina⋅Friemel, Barry H⋅Quarre, Steve⋅Breman, Amy⋅Dorschner, Michael⋅Blau, Sibel⋅Blau, C Anthony⋅Sabath, Daniel E⋅Stilwell, Jackie L and Kaldjian, Eric P
BMC cancer, vol. 15, (no. 1), pp. 360, 2015-May-06. | Journal Article
2013
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy
Campbell, Ian M⋅Campbell, Ian M⋅Rao, Mitchell⋅Rao, Mitchell⋅Arredondo, Sean D⋅Arredondo, Sean D⋅Lalani, Seema R⋅Lalani, Seema R⋅Xia, Zhilian⋅Xia, Zhilian⋅Kang, Sung-Hae L⋅Kang, Sung-Hae L⋅Bi, Weimin⋅Bi, Weimin⋅Breman, Amy M⋅Breman, Amy M⋅Smith, Janice L⋅Smith, Janice L⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Beaudet, Arthur L⋅Beaudet, Arthur L⋅Patel, Ankita⋅Patel, Ankita⋅Cheung, Sau W⋅Cheung, Sau Wai⋅Lupski, James R⋅Lupski, James R⋅Stankiewicz, Paweł⋅Stankiewicz, Paweł⋅Ramocki, Melissa B⋅Ramocki, Melissa B⋅Shaw, Chad A and Shaw, Chad A
PLoS genetics, vol. 9, (no. 9), pp. e1003797, 2013-00-00. | Journal Article
 
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
Dittwald, Piotr⋅Dittwald, Piotr⋅Gambin, Tomasz⋅Gambin, Tomasz⋅Szafranski, Przemyslaw⋅Szafranski, Przemyslaw⋅Li, Jian⋅Li, Jian⋅Amato, Stephen⋅Amato, Stephen⋅Divon, Michael Y⋅Divon, Michael Y⋅Rodríguez Rojas, Lisa Ximena⋅Rodríguez Rojas, Lisa X⋅Elton, Lindsay E⋅Elton, Lindsay E⋅Scott, Daryl⋅Scott, Daryl A⋅Schaaf, Christian P⋅Schaaf, Christian P⋅Torres-Martinez, Wilfredo⋅Torres-Martinez, Wilfredo⋅Stevens, Abby K⋅Stevens, Abby K⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Agadi, Satish⋅Agadi, Satish⋅Francis, David⋅Francis, David⋅Kang, Sung-Hae L⋅Kang, Sung-Hae L⋅Breman, Amy⋅Breman, Amy⋅Lalani, Seema R⋅Lalani, Seema R⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Bi, Weimin⋅Bi, Weimin⋅Milosavljevic, Aleksandar⋅Milosavljevic, Aleksandar⋅Beaudet, Arthur L⋅Beaudet, Arthur L⋅Patel, Ankita⋅Patel, Ankita⋅Shaw, Chad A⋅Shaw, Chad A⋅Lupski, James R⋅Lupski, James R⋅Gambin, Anna⋅Gambin, Anna⋅Cheung, Sau W⋅Cheung, Sau Wai⋅Stankiewicz, Pawel and Stankiewicz, Pawel
Genome research, vol. 23, (no. 9), pp. 1409, 2013-Sep. | Journal Article
 
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
Han, Kihoon⋅Han, Kihoon⋅HAN, KIHOON⋅HOLDER, J. Lloyd⋅Holder, J L⋅Holder, Jr, J Lloyd⋅Schaaf, Christian P⋅Schaaf, Christian P⋅YU, PENG⋅Lu, Hui⋅Lu, Hui⋅SUN, HAO⋅BREMAN, Amy M⋅Chen, Hongmei⋅Chen, Hongmei⋅Kang, Hyojin⋅Kang, Hyojin⋅PATEL, Ankita⋅Tang, Jianrong⋅Tang, Jianrong⋅Lu, Hui Chen⋅Wu, Zhenyu⋅Wu, Zhenyu⋅ZOGHBI, Huda Y⋅Hao, Shuang⋅Hao, Shuang⋅SCHAAF, Christian P⋅LU, HUI⋅Cheung, Sau Wai⋅Cheung, Sau W⋅Yu, Peng⋅CHEN, HONGMEI⋅Yu, Peng⋅KANG, HYOJIN⋅Sun, Hao⋅Sun, Hao⋅TANG, JIANRONG⋅Breman, Amy M⋅Breman, Amy M⋅Patel, Ankita⋅Patel, Ankita⋅WU, ZHENYU⋅Lu, Hui-Chen⋅Lu, Hui-Chen⋅HAO, SHUANG⋅CHEUNG, SAU⋅Zoghbi, Huda Y and Zoghbi, Huda Y
Nature, vol. 503, (no. 7474), pp. 77, 2013-Nov-07. | Journal Article
2012
26: Prenatal array comparative genomic hybridization: when is it indicated and what sample is best? Our experience in over 1000 prenatal cases
Cheung, Sau⋅Breman, Amy⋅Pursley, Amber⋅Hixson, Patricia⋅Bi, Weimin⋅Ward, Patricia⋅Shaw, Chad⋅Lupski, Jim⋅Veyver, Ignatia⋅Beaudet, Arthur and Patel, Ankita
American Journal of Obstetrics and Gynecology, vol. 206, (no. 1), pp. S17, 2012. | Journal Article
 
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
Bi, Weimin⋅Breman, Amy⋅Shaw, Chad A⋅Stankiewicz, Pawel⋅Gambin, Tomasz⋅Lu, Xinyan⋅Cheung, Sau Wai⋅Jackson, Laird G⋅Lupski, James R⋅Veyver, Ignatia B. Van and Beaudet, Arthur L
Prenatal Diagnosis, vol. 32, (no. 1), pp. 20, January 2012. | Journal Article
 
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
Bi, Weimin⋅Bi, Weimin⋅Bi, Weimin⋅Breman, Amy⋅Breman, Amy⋅Breman, Amy⋅Shaw, Chad A⋅Shaw,, Chad⋅Shaw, Chad A⋅Stankiewicz, Pawel⋅Stankiewicz, Pawel⋅Stankiewicz, Pawel⋅Gambin, Tomasz⋅Gambin, Tomasz⋅Gambin, Tomasz⋅Lu, Xinyan⋅Lu, Xinyan⋅Lu, Xinyan⋅Cheung, Sau Wai⋅Cheung, Sau W⋅Cheung, Sau Wai⋅Jackson, Laird G⋅Jackson, Laird G⋅Jackson, Laird G⋅Lupski, James R⋅Lupski, James R⋅Lupski, James R⋅Van den Veyver, Ignatia B⋅Van den Veyver, Ignatia B⋅Van Den Veyver, Ignatia B⋅Beaudet, Arthur L⋅Beaudet, Arthur L and Beaudet, Arthur L
Prenatal diagnosis, vol. 32, (no. 1), pp. 10, 2012-Jan. | Journal Article
 
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
Breman, Amy⋅Breman, Amy⋅Pursley, Amber N⋅Pursley, Amber N⋅Hixson, Patricia⋅Hixson, Patricia⋅Bi, Weimin⋅Bi, Weimin⋅Ward, Patricia⋅Ward, Patricia⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Shaw, Chad⋅Shaw, Chad⋅Lupski, James R⋅Lupski, James R⋅Beaudet, Arthur⋅Beaudet, Arthur⋅Patel, Ankita⋅Patel, Ankita⋅Cheung, Sau W⋅Cheung, Sau W⋅Van den Veyver, Ignatia and Van den Veyver, Ignatia
Prenatal Diagnosis, vol. 32, (no. 4), pp. 361, April 2012. | Journal Article
 
Preparation of Chorionic Villus Samples for Metaphase Chromosome Analysis and Chromosomal Microarray Analysis
Breman, Amy and Patel, Ankita
Current Protocols in Human Genetics, vol. 75, (no. 1), pp. 8.3.9, October 2012. | Journal Article
2011
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q
Breman, Amy M⋅Breman, Amy M⋅Probst, Frank J⋅Probst, Frank⋅Blazo, Maria A⋅Blazo, Maria A⋅Schaaf, Christian P⋅Schaaf, Christian P⋅Roney, Erin K⋅Roney, Erin K⋅Craigen, William J⋅Craigen, William J⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Cheung, Sau W and Cheung, Sau Wai
American Journal of Medical Genetics Part A, vol. 155, (no. 6), pp. 1468, June 2011. | Journal Article
 
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
Oshima, Junko⋅Oshima, Junko⋅Lee, Jennifer A⋅Lee, Jennifer A⋅Breman, Amy M⋅Breman, Amy M⋅Fernandes, Priscilla H⋅Fernandes, Priscilla H⋅Babovic-Vuksanovic, Dusica⋅Babovic-Vuksanovic, Dusica⋅Ward, Patricia A⋅Ward, Patricia A⋅Wolfe, Lynne A⋅Wolfe, Lynne A⋅Eng, Christine M⋅Eng, Christine M⋅del Gaudio, Daniela⋅Del Gaudio, Daniela and Del Gaudio, Daniela
Journal of human genetics, vol. 56, (no. 7), pp. 523, 2011-Jul. | Journal Article
 
MECP2 duplications in six patients with complex sex chromosome rearrangements
Breman, Amy M⋅Breman, Amy⋅Ramocki, Melissa⋅Ramocki, Melissa B⋅Kang, Sung-Hae L⋅Kang, Sung-hae⋅Williams, Misti⋅Williams, Misti⋅Freedenberg, Debra⋅Freedenberg, Debra⋅Patel, Ankita⋅Patel, Ankita⋅Bader, Patricia I⋅Bader, Patricia⋅Cheung, Sau and Cheung, Sau W
European Journal of Human Genetics : EJHG, vol. 19, (no. 10), pp. 1110, 20111001. | Journal Article
 
MECP2 duplications in six patients with complex sex chromosome rearrangements
Breman, Amy M⋅Breman, Amy M⋅Ramocki, Melissa B⋅Ramocki, Melissa B⋅Kang, Sung-Hae L⋅Kang, Sung-Hae L⋅Williams, Misti⋅Williams, Misti⋅Freedenberg, Debra⋅Freedenberg, Debra⋅Patel, Ankita⋅Patel, Ankita⋅Bader, Patricia I⋅Bader, Patricia I⋅Cheung, Sau Wai and Cheung, Sau W
European journal of human genetics : EJHG, vol. 19, (no. 4), pp. 415, 2011-Apr. | Journal Article
 
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
Ou, Zhishuo⋅Ou, Zhishuo⋅Stankiewicz, Paweł⋅Stankiewicz, Pawel⋅Xia, Zhilian⋅Xia, Zhilian⋅Breman, Amy M⋅Breman, Amy M⋅Dawson, Brian⋅Dawson, Brian⋅Wiszniewska, Joanna⋅Wiszniewska, Joanna⋅Szafranski, Przemyslaw⋅Szafranski, Przemyslaw⋅Cooper, M Lance⋅Cooper, M L⋅Rao, Mitchell⋅Rao, Mitchell⋅Shao, Lina⋅Shao, Lina⋅South, Sarah T⋅South, Sarah T⋅Coleman, Karlene⋅Coleman, Karlene⋅Fernhoff, Paul M⋅Fernhoff, Paul M⋅Deray, Marcel J⋅Deray, Marcel J⋅Rosengren, Sally⋅Rosengren, Sally⋅Roeder, Elizabeth R⋅Roeder, Elizabeth R⋅Enciso, Victoria B⋅Enciso, Victoria B⋅Chinault, A Craig⋅Chinault, A. C⋅Patel, Ankita⋅Patel, Ankita⋅Kang, Sung-Hae L⋅Kang, Sung-Hae L⋅Shaw,, Chad⋅Shaw, Chad A⋅Lupski, James R⋅Lupski, James R⋅Cheung, Sau W and Cheung, Sau W
Genome research, vol. 21, (no. 1), pp. 46, 2011-Jan. | Journal Article
2010
OEIS complex associated with chromosome 1p36 deletion: A case report and review
El‐Hattab, Ayman W⋅El-Hattab, Ayman W⋅Skorupski, Josh C⋅Skorupski, Josh C⋅Hsieh, Michael⋅Hsieh, Michael H⋅Breman, Amy M⋅Breman, Amy M⋅Patel, Ankita⋅Patel, Ankita⋅Cheung, Sau W⋅Cheung, Sau Wai⋅Craigen, William J and Craigen, William J
American Journal of Medical Genetics Part A, vol. 152A, (no. 2), pp. 511, February 2010. | Journal Article
 
OEIS complex associated with chromosome 1p36 deletion: A case report and review
El-Hattab, Ayman W⋅El-Hattab, Ayman⋅Skorupski, Josh⋅Skorupski, Josh C⋅Hsieh, Michael⋅Hsieh, Michael H⋅Breman, Amy⋅Breman, Amy M⋅Patel, Ankita⋅Patel, Ankita⋅Cheung, Sau⋅Cheung, Sau W⋅Craigen, William and Craigen, William J
2010-02. | Journal Article
2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Wat, Margaret J⋅Wat, Margaret J⋅Shchelochkov, Oleg A⋅Shchelochkov, Oleg⋅Holder, Ashley M⋅Holder, Ashley M⋅Breman, Amy M⋅Breman, Amy M⋅Dagli, Aditi⋅Dagli, Aditi⋅Bacino, Carlos⋅Bacino, Carlos A⋅Scaglia, Fernando⋅Scaglia, Fernando⋅Zori, Roberto T⋅Zori, Roberto T⋅Cheung, Sau Wai⋅Cheung, Sau W⋅Scott, Daryl A⋅Scott, Daryl⋅Kang, Sung‐Hae Lee and Kang, Sung-Hae L
American Journal of Medical Genetics Part A, vol. 149A, (no. 8), pp. 1677, August 2009. | Journal Article