57 Publications (Page 1 of 3)
2023
Factors that influence genetic counselors' participation in research
Sikkink, Kaitlin⋅Delk, Paula⋅Wetherill, Leah⋅Breman, Amy and Wesson, Melissa
Journal of Genetic Counseling, vol. 32, (no. 2), pp. 351-361, Apr 2023. | Journal Article
2022
Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study
Richardson, Brooke⋅Richardson, Brooke⋅Fitzgerald-Butt, Sara M.⋅⋅Spoonamore, Katherine G⋅Spoonamore, Katherine G.⋅Wetherill, Leah⋅Wetherill, Leah⋅Helm, Benjamin M.⋅Helm, Benjamin M⋅Breman, Amy M and Breman, Amy M.
Journal of Genetic Counseling, vol. 31, (no. 2), pp. 479-488, Apr 2022. | Journal Article
2020
An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Arya, Priyanka⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Wilson, Theodore E⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Parent, John J⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Ware, Stephanie M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Helm, Benjamin M⋅Helm, Benjamin M⋅Helm, Benjamin M and Helm, Benjamin M
European Journal of Medical Genetics, vol. 63, (no. 4), pp. 103797, April 2020. | Journal Article
 
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 and Stankiewicz, Pawel
Genomics, vol. 112, (no. 5), pp. 2941, 2020-May-06. | Journal Article
2019
900: A pilot validation study for cell-based noninvasive prenatal testing (NIPT) in 42 cases
Vossaert, Liesbeth⋅Wang, Qun⋅Salman, Roseen⋅McCombs, Anne⋅Henke, David⋅Qu, Chunjing⋅Bi, Weimin⋅Levy, Brynn⋅Yang, Yaping⋅Shaw, Chad⋅Wapner, Ronald⋅Breman, Amy⋅Van den Veyver, Ignatia and Beaudet, Arthur
American Journal of Obstetrics and Gynecology, vol. 220, (no. 1), pp. S583, January 2019. | Journal Article
 
A new case of adult Acute Myeloid Leukemia with t(3;3)(p24;q26)
Yuan, Bo⋅Smith, Janice⋅Ewton, April⋅Pingali, Sai Ravi⋅Zieske, Arthur and Breman, Amy
Atlas of Genetics and Cytogenetics in Oncology and Haematology, (no. 7), 2019-10-00. | Journal Article
 
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3
Castelluccio, Valerie J⋅Castelluccio, Valerie J⋅Castelluccio, Valerie J⋅Vetrini, Francesco⋅Vetrini, Francesco⋅Vetrini, Francesco⋅Lynnes, Ty⋅Lynnes, Ty⋅Lynnes, Ty⋅Jones, Julie⋅Jones, Julie⋅Jones, Julie⋅Holloway, Lynda⋅Holloway, Lynda⋅Holloway, Lynda⋅Belonis, Alyce⋅Belonis, Alyce⋅Belonis, Alyce⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Graham, Brett H⋅Graham, Brett H⋅Graham, Brett H⋅Sapp, Katherine⋅Sapp, Katherine⋅Sapp, Katherine⋅Wilson, Theodore⋅Wilson, Theodore⋅Wilson, Theodore⋅Schwartz, Charles E⋅Schwartz, Charles E⋅Schwartz, Charles E⋅Pratt, Victoria M⋅Pratt, Victoria M⋅Pratt, Victoria M⋅Weaver, David D⋅Weaver, David D and Weaver, David D
American Journal of Medical Genetics Part A, vol. 179, (no. 12), pp. 2364, December 2019. | Journal Article
 
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Yuan, Bo⋅Neira, Juanita⋅Pehlivan, Davut⋅Santiago-Sim, Teresa⋅Song, Xiaofei⋅Rosenfeld, Jill⋅Posey, Jennifer E⋅Patel, Vipulkumar⋅Jin, Weihong⋅Adam, Margaret P⋅Baple, Emma L⋅Dean, John⋅Fong, Chin-To⋅Hickey, Scott E⋅Hudgins, Louanne⋅Leon, Eyby⋅Madan-Khetarpal, Suneeta⋅Rawlins, Lettie⋅Rustad, Cecilie F⋅Stray-Pedersen, Asbjørg⋅Tveten, Kristian⋅Wenger, Olivia⋅Diaz, Jullianne⋅Jenkins, Laura⋅Martin, Laura⋅McGuire, Marianne⋅Pietryga, Marguerite⋅Ramsdell, Linda⋅Slattery, Leah⋅Abid, Farida⋅Bertuch, Alison A⋅Grange, Dorothy⋅Immken, LaDonna⋅Schaaf, Christian P⋅Van Esch, Hilde⋅Bi, Weimin⋅Cheung, Sau Wai⋅Breman, Amy M⋅Smith, Janice L⋅Shaw, Chad⋅Crosby, Andrew H⋅Eng, Christine⋅Yang, Yaping⋅Lupski, James R⋅Xiao, Rui and Liu, Pengfei
Genetics in medicine : official journal of the American College of Medical Genetics, vol. 21, (no. 3), pp. 675, 2019-03-00. | Journal Article
 
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
Dharmadhikari, Avinash V⋅Ghosh, Rajarshi⋅Yuan, Bo⋅Liu, Pengfei⋅Dai, Hongzheng⋅Al Masri, Sami⋅Scull, Jennifer⋅Posey, Jennifer E⋅Jiang, Allen H⋅He, Weimin⋅Vetrini, Francesco⋅Braxton, Alicia A⋅Ward, Patricia⋅Chiang, Theodore⋅Qu, Chunjing⋅Gu, Shen⋅Shaw, Chad A⋅Smith, Janice L⋅Lalani, Seema⋅Stankiewicz, Pawel⋅Cheung, Sau-Wai⋅Bacino, Carlos A⋅Patel, Ankita⋅Breman, Amy M⋅Wang, Xia⋅Meng, Linyan⋅Xiao, Rui⋅Xia, Fan⋅Muzny, Donna⋅Gibbs, Richard A⋅Beaudet, Arthur L⋅Eng, Christine M⋅Lupski, James R⋅Yang, Yaping and Bi, Weimin
Genome medicine, vol. 11, (no. 1), pp. 30, 2019-05-17. | Journal Article
 
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Zhang, Jinglan⋅⋅Li, Jianli⋅Li, Jianli⋅Saucier, Jennifer B⋅Saucier, Jennifer B⋅Feng, Yanming⋅Jiang, Yanjun⋅Sinson, Jefferson⋅McCombs, Anne K⋅McCombs, Anne K⋅Schmitt, Eric S⋅Schmitt, Eric S⋅Peacock, Sandra⋅Peacock, Sandra⋅Chen, Stella⋅Chen, Stella⋅Dai, Hongzheng⋅Ge, Xiaoyan⋅Wang, Guoli⋅Wang, Guoli⋅Shaw, Chad A⋅Shaw, Chad A⋅Hui, Mei⋅Mei, Hui⋅Breman, Amy⋅Breman, Amy⋅Xia, Fan⋅Fan, Xia⋅Yang, Yaping⋅Yang, Yaping⋅Purgason, Anne⋅Purgason, Anne⋅Pourpak, Alan⋅Pourpak, Alan⋅Chen, Zhao⋅Chen, Zhao⋅Wang, Xia⋅Wang, Xia⋅Wang, Yue⋅Wang, Yue⋅Kulkarni, Shashikant⋅Choy, Kwong Wai⋅Choy, Kwong W⋅Wapner, Ronald J⋅Wapner, Ronald J⋅Van den Veyver, Ignatia B⋅Beaudet, Arthur⋅Beaudet, Arthur⋅Parmar, Sheetal⋅Lee-Jun, Wong⋅Wong, Lee-Jun⋅Eng, Christine M and Eng, Christine M
Nature medicine, vol. 25, (no. 3), pp. 447, 2019-03-00. | Journal Article
 
Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA
Zhang, Jinglan⋅Li, Jianli⋅Saucier, Jennifer⋅Feng, Yanming⋅Jiang, Yanjun⋅Sinson, Jefferson⋅McCombs, Anne⋅Schmitt, Eric⋅Peacock, Sandra⋅Chen, Stella⋅Dai, Hongzheng⋅Ge, Xiaoyan⋅Wang, Guoli⋅Shaw, Chad⋅Mei, Hui⋅Breman, Amy⋅Xia, Fan⋅Yang, Yaping⋅Purgason, Anne⋅Pourpak, Alan⋅Chen, Zhao⋅Wang, Xia⋅Wang, Yue⋅Kulkarni, Shashikant⋅Choy, Kwong⋅Wapner, Ronald⋅Van den Veyver, Ignatia⋅Beaudet, Arthur⋅Parmar, Sheetal⋅Wong, Lee-Jun and Eng, Christine
Obstetrical & Gynecological Survey, vol. 74, (no. 6), pp. 332, 2019-June. | Journal Article
 
Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia
Lobashevsky, Andrew L⋅Lobashevsky, Andrew L⋅Lobashevsky, Andrew L⋅Krueger-Sersen, Mary⋅Krueger-Sersen, Mary⋅Krueger-Sersen, Mary⋅Britton, Rebecca M⋅Britton, Rebecca M⋅Britton, Rebecca M⋅Littrell, Courtney A⋅Littrell, Courtney A⋅Littrell, Courtney A⋅Singh, Susmita⋅Singh, Susmita⋅Singh, Susmita⋅Cui, Connie P⋅Cui, Connie P⋅Cui, Connie P⋅Kashi, Zahra⋅Kashi, Zahra⋅Kashi, Zahra⋅Martin, Russ K⋅Martin, Russ K⋅Martin, Russ K⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Vance, Gail H⋅Vance, Gail H⋅Vance, Gail H⋅Farag, Sherif S⋅Farag, Sherif S and Farag, Sherif S
Human Immunology, vol. 80, (no. 4), pp. 262, April 2019. | Journal Article
 
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
Zhang, Jinglan⋅Li, Jianli⋅Saucier, Jennifer B⋅Feng, Yanming⋅Jiang, Yanjun⋅Sinson, Jefferson⋅McCombs, Anne K⋅Schmitt, Eric S⋅Peacock, Sandra⋅Chen, Stella⋅Dai, Hongzheng⋅Ge, Xiaoyan⋅Wang, Guoli⋅Shaw, Chad A⋅Mei, Hui⋅Breman, Amy⋅Xia, Fan⋅Yang, Yaping⋅Purgason, Anne⋅Pourpak, Alan⋅Chen, Zhao⋅Wang, Xia⋅Wang, Yue⋅Kulkarni, Shashikant⋅Choy, Kwong Wai⋅Wapner, Ronald J⋅Van den Veyver, Ignatia B⋅Beaudet, Arthur⋅Parmar, Sheetal⋅Wong, Lee-Jun and Eng, Christine M
Nature medicine, vol. 25, (no. 4), pp. 702, 2019-Apr. | Journal Article
 
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis
Vossaert, Liesbeth⋅Wang, Qun⋅Salman, Roseen⋅McCombs, Anne K⋅Patel, Vipulkumar⋅Qu, Chunjing⋅Mancini, Michael A⋅Edwards, Dean P⋅Malovannaya, Anna⋅Liu, Pengfei⋅Shaw, Chad A⋅Levy, Brynn⋅Wapner, Ronald J⋅Bi, Weimin⋅Breman, Amy M⋅Van den Veyver, Ignatia B and Beaudet, Arthur L
The American Journal of Human Genetics, vol. 105, (no. 6), pp. 1273, 2019-12-05. | Journal Article
2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Gennarino, Vincenzo A⋅Gennarino, Vincenzo A⋅VA, Gennarino⋅EE, Palmer⋅Palmer, Elizabeth E⋅Palmer, Elizabeth E⋅McDonell, Laura M⋅LM, McDonell⋅McDonell, Laura M⋅Wang, Li⋅L, Wang⋅Wang, Li⋅Adamski, Carolyn J⋅CJ, Adamski⋅Adamski, Carolyn J⋅Koire, Amanda⋅Koire, Amanda⋅A, Koire⋅See, Lauren⋅See, Lauren⋅Chen, Chun-An⋅CA, Chen⋅Chen, Chun-An⋅CP, Schaaf⋅Schaaf, Christian P⋅Schaaf, Christian P⋅JA, Rosenfeld⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Panzer, Jessica A⋅Panzer, Jessica A⋅Moog, Ute⋅U, Moog⋅Moog, Ute⋅S, Hao⋅Hao, Shuang⋅Hao, Shuang⋅Bye, Ann⋅Bye, Ann⋅Kirk, Edwin P⋅EP, Kirk⋅Kirk, Edwin P⋅Stankiewicz, Pawel⋅Stankiewicz, Pawel⋅HY, Zoghbi⋅Breman, Amy M⋅Breman, Amy M⋅McBride, Arran⋅McBride, Arran⋅Kandula, Tejaswi⋅Kandula, Tejaswi⋅Dubbs, Holly A⋅Dubbs, Holly A⋅Macintosh, Rebecca⋅Macintosh, Rebecca⋅Cardamone, Michael⋅Cardamone, Michael⋅Zhu, Ying⋅Zhu, Ying⋅Ying, Kevin⋅Ying, Kevin⋅Dias, Kerith-Rae⋅Dias, Kerith-Rae⋅Cho, Megan T⋅Cho, Megan T⋅Henderson, Lindsay B⋅Henderson, Lindsay B⋅Baskin, Berivan⋅Baskin, Berivan⋅Morris, Paula⋅Morris, Paula⋅Tao, Jiang⋅Tao, Jiang⋅Cowley, Mark J⋅Cowley, Mark J⋅Dinger, Marcel E⋅Dinger, Marcel E⋅Roscioli, Tony⋅Roscioli, Tony⋅Caluseriu, Oana⋅Caluseriu, Oana⋅Suchowersky, Oksana⋅Suchowersky, Oksana⋅Sachdev, Rani K⋅Sachdev, Rani K⋅Lichtarge, Olivier⋅Lichtarge, Olivier⋅Tang, Jianrong⋅Tang, Jianrong⋅Boycott, Kym M⋅Boycott, Kym M⋅Holder, J. Lloyd⋅Holder, J Lloyd⋅Zoghbi, Huda Y and Zoghbi, Huda Y
Cell, vol. 172, (no. 5), pp. 936.e11, 2018-02-22. | Journal Article
 
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions
Gu, Shen⋅Jernegan, Madison⋅Van den Veyver, Ignatia B⋅Peacock, Sandra⋅Smith, Janice and Breman, Amy
Prenatal diagnosis, vol. 38, (no. 11), pp. 865, 2018-10-00. | Journal Article
 
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly
Pillai, Nishitha R⋅Pillai, Nishitha R⋅Marafi, Dana⋅Marafi, Dana⋅Monteiro, Sonia A⋅Monteiro, Sonia A⋅Parnes, Mered⋅Parnes, Mered⋅Chandy, Binoy Mathew⋅Chandy, Binoy Mathew⋅Patel, Ankita⋅Patel, Ankita⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Breman, Amy M⋅Breman, Amy M⋅Burrage, Lindsay C and Burrage, Lindsay C
European journal of medical genetics, pp. 103531, 2018-Aug-22. | Journal Article
 
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements
Song, Xiaofei⋅Song, Xiaofei⋅Song, Xiaofei⋅Beck, Christine R⋅Beck, Christine R⋅Beck, Christine R⋅Du, Renqian⋅Du, Renqian⋅Du, Renqian⋅Campbell, Ian M⋅Campbell, Ian M⋅Campbell, Ian M⋅Coban-Akdemir, Zeynep⋅Coban-Akdemir, Zeynep⋅Coban-Akdemir, Zeynep⋅Gu, Shen⋅Gu, Shen⋅Gu, Shen⋅Breman, Amy M⋅Breman, Amy M⋅Breman, Amy M⋅Stankiewicz, Pawel⋅Stankiewicz, Pawel⋅Stankiewicz, Pawel⋅Ira, Grzegorz⋅Ira, Grzegorz⋅Ira, Grzegorz⋅Shaw, Chad A⋅Shaw, Chad A⋅Shaw, Chad A⋅Lupski, James R⋅Lupski, James R and Lupski, James R
Genome research, vol. 28, (no. 8), pp. 1242, 2018-08-00. | Journal Article
 
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
Vossaert, Liesbeth⋅Wang, Qun⋅Salman, Roseen⋅Zhuo, Xinming⋅Qu, Chunjing⋅Henke, David⋅Seubert, Ron⋅Chow, Jennifer⋅U'ren, Lance⋅Enright, Brennan⋅Stilwell, Jackie⋅Kaldjian, Eric⋅Yang, Yaping⋅Shaw, Chad⋅Levy, Brynn⋅Wapner, Ronald⋅Breman, Amy⋅Van den Veyver, Ignatia and Beaudet, Arthur
Prenatal diagnosis, vol. 38, (no. 13), pp. 1069-1078, December 2018. | Journal Article
 
Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing
Vossaert, Liesbeth⋅Wang, Qun⋅Salman, Roseen⋅Zhuo, Xinming⋅Qu, Chunjing⋅Henke, David⋅Seubert, Ron⋅Chow, Jennifer⋅U'ren, Lance⋅Enright, Brennan⋅Stilwell, Jackie⋅Kaldjian, Eric⋅Yang, Yaping⋅Shaw, Chad⋅Levy, Brynn⋅Wapner, Ronald⋅Breman, Amy⋅Van den Veyver, Ignatia and Beaudet, Arthur
Prenatal Diagnosis, vol. 38, (no. 13), pp. 1078, December 2018. | Journal Article
2017
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
Liu, Pengfei⋅Liu, Pengfei⋅Liu, Pengfei⋅Yuan, Bo⋅Yuan, Bo⋅Yuan, Bo⋅Carvalho, Claudia M B⋅Carvalho, Claudia M.B⋅Carvalho, Claudia M.B⋅Wuster, Arthur⋅Wuster, Arthur⋅Wuster, Arthur⋅Walter, Klaudia⋅Walter, Klaudia⋅Walter, Klaudia⋅Zhang, Feng⋅Zhang, Ling⋅Zhang, Ling⋅Zhang, Ling⋅Gambin, Tomasz⋅Gambin, Tomasz⋅Gambin, Tomasz⋅Chong, Zechen⋅Chong, Zechen⋅Chong, Zechen⋅Campbell, Ian M⋅Campbell, Ian M⋅Campbell, Ian M⋅Coban Akdemir, Zeynep⋅Coban Akdemir, Zeynep⋅Coban Akdemir, Zeynep⋅Gelowani, Violet⋅Gelowani, Violet⋅Gelowani, Violet⋅Writzl, Karin⋅Writzl, Karin⋅Writzl, Karin⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Lindsay, Sarah J⋅Lindsay, Sarah J⋅Lindsay, Sarah J⋅Withers, Marjorie⋅Withers, Marjorie⋅Withers, Marjorie⋅Gonzaga-Jauregui, Claudia⋅Gonzaga-Jauregui, Claudia⋅Gonzaga-Jauregui, Claudia⋅Wiszniewska, Joanna⋅Wiszniewska, Joanna⋅Wiszniewska, Joanna⋅Scull, Jennifer⋅Scull, Jennifer⋅Scull, Jennifer⋅Stankiewicz, Paweł⋅Stankiewicz, Paweł⋅Stankiewicz, Paweł⋅Jhangiani, Shalini N⋅Jhangiani, Shalini N⋅Jhangiani, Shalini N⋅Muzny, Donna M⋅Muzny, Donna M⋅Muzny, Donna M⋅Zhang, Feng⋅Zhang, Feng⋅Chen, Ken⋅Chen, Ken⋅Chen, Ken⋅Gibbs, Richard A⋅Gibbs, Richard A⋅Gibbs, Richard A⋅Rautenstrauss, Bernd⋅Rautenstrauss, Bernd⋅Rautenstrauss, Bernd⋅Cheung, Sau Wai⋅Cheung, Sau Wai⋅Cheung, Sau Wai⋅Smith, Janice⋅Smith, Janice⋅Smith, Janice⋅Breman, Amy⋅Breman, Amy⋅Breman, Amy⋅Shaw, Chad A⋅Shaw, Chad A⋅Shaw, Chad A⋅Patel, Ankita⋅Patel, Ankita⋅Patel, Ankita⋅Hurles, Matthew E⋅Hurles, Matthew E⋅Hurles, Matthew E⋅Lupski, James R⋅Lupski, James R and Lupski, James R
Cell, vol. 168, (no. 5), pp. 842.e7, 2017-02-23. | Journal Article
 
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 and Yu, Fuli
Human Mutation, vol. 38, (no. 6), pp. 677, June 2017. | Journal Article
 
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Scott, Daryl A⋅Scott, Daryl A⋅Hernandez-Garcia, Andres⋅Hernandez-Garcia, Andres⋅Azamian, Mahshid S⋅Azamian, Mahshid S⋅Jordan, Valerie K⋅Jordan, Valerie K⋅Kim, Bum Jun⋅Kim, Bum Jun⋅Starkovich, Molly⋅Starkovich, Molly⋅Zhang, Jinglan⋅Zhang, Jinglan⋅Wong, Lee-Jun⋅Wong, Lee-Jun⋅Darilek, Sandra A⋅Darilek, Sandra A⋅Breman, Amy M⋅Breman, Amy M⋅Yang, Yaping⋅Yang, Yaping⋅Lupski, James R⋅Lupski, James R⋅Jiwani, Amyn K⋅Jiwani, Amyn K⋅Das, Bibhuti⋅Das, Bibhuti⋅Lalani, Seema R⋅Lalani, Seema R⋅Iglesias, Alejandro D⋅Iglesias, Alejandro D⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Xia, Fan and Xia, Fan
Journal of Medical Genetics, vol. 54, (no. 1), pp. 53, 20170100. | Journal Article
 
Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing
Breman, Amy⋅Chow, Jennifer⋅U’Ren, Lance⋅Normand, Elizabeth⋅Qdaisat, Sadeem⋅Zhao, Li⋅Henke, David⋅Chen, Rui⋅Shaw, Chad⋅Jackson, Laird⋅Yang, Yaping⋅Vossaert, Liesbeth⋅Needham, Rachel H⋅Chang, Elizabeth⋅Campton, Daniel⋅Werbin, Jeffrey⋅Seubert, Ron⋅Van den Veyver, Ignatia⋅Stilwell, Jackie⋅Kaldjian, Eric and Beaudet, Arthur
Obstetrical & Gynecological Survey, vol. 72, (no. 1), pp. 5, 2017-January. | Journal Article
 
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Stankiewicz, Paweł⋅Stankiewicz, Paweł⋅Khan, Tahir N⋅Khan, Tahir N⋅Szafranski, Przemyslaw⋅Szafranski, Przemyslaw⋅Slattery, Leah⋅Slattery, Leah⋅Streff, Haley⋅Streff, Haley⋅Vetrini, Francesco⋅Vetrini, Francesco⋅Bernstein, Jonathan A⋅Bernstein, Jonathan A⋅Brown, Chester W⋅Brown, Chester W⋅Rosenfeld, Jill A⋅Rosenfeld, Jill A⋅Rednam, Surya⋅Rednam, Surya⋅Scollon, Sarah⋅Scollon, Sarah⋅Bergstrom, Katie L⋅Bergstrom, Katie L⋅Parsons, Donald W⋅Parsons, Donald W⋅Plon, Sharon E⋅Plon, Sharon E⋅Vieira, Marta W⋅Vieira, Marta W⋅Quaio, Caio R D C⋅Quaio, Caio R.D.C⋅Baratela, Wagner A R⋅Baratela, Wagner A.R⋅Acosta Guio, Johanna C⋅Acosta Guio, Johanna C⋅Armstrong, Ruth⋅Armstrong, Ruth⋅Mehta, Sarju G⋅Mehta, Sarju G⋅Rump, Patrick⋅Rump, Patrick⋅Pfundt, Rolph⋅Pfundt, Rolph⋅Lewandowski, Raymond⋅Lewandowski, Raymond⋅Fernandes, Erica M⋅Fernandes, Erica M⋅Shinde, Deepali N⋅Shinde, Deepali N⋅Tang, Sha⋅Tang, Sha⋅Hoyer, Juliane⋅Hoyer, Juliane⋅Zweier, Christiane⋅Zweier, Christiane⋅Reis, André⋅Reis, André⋅Bacino, Carlos A⋅Bacino, Carlos A⋅Xiao, Rui⋅Xiao, Rui⋅Breman, Amy M⋅Breman, Amy M⋅Smith, Janice L⋅Smith, Janice L⋅Katsanis, Nicholas⋅Katsanis, Nicholas⋅Bostwick, Bret⋅Katsanis, Nicholas⋅Bostwick, Bret⋅Popp, Bernt⋅Popp, Bernt⋅Bostwick, Bret⋅Davis, Erica E⋅Popp, Bernt⋅Davis, Erica E⋅Davis, Erica E⋅Yang, Yaping⋅Yang, Yaping and Yang, Yaping
The American Journal of Human Genetics, vol. 101, (no. 4), pp. 515, 2017-10-05. | Journal Article