日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort

拷贝数变异分析提高了儿童外显子组测序队列的诊断率

Hahn, Elan; Dharmadhikari, Avinash V; Markowitz, Alexander L; Estrine, Dolores; Quindipan, Catherine; Maggo, Simran D S; Sharma, Ankit; Lee, Brian; Maglinte, Dennis T; Shams, Soheil; Deardorff, Matthew A; Biegel, Jaclyn A; Gai, Xiaowu; Sun, Miao; Schmidt, Ryan J; Raca, Gordana; Ji, Jianling

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

对智力障碍/自闭症基因测序中常用基因进行临床有效性评估

Riggs, Erin Rooney; Bingaman, Taylor I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R; Dharmadhikari, Avinash V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R; Hughes, Madeline Y; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aimé; Mah, Michelle; Maloney, Caitlin M; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A; Reble, Emma; Rennie, Olivia; Savatt, Juliann M; Shimelis, Hermela; Siegert, Rebecca K; Sneddon, Tam P; Thaxton, Courtney; Toner, Kelly A; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A S; Miller, David T; Schaaf, Christian P

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

病例报告:产前鉴定出一种新生嵌合体新着丝粒标记,导致一名轻度受累女孩出现13q31.1→qter四体综合征。

Dharmadhikari, Avinash V; Pereira, Elaine M; Andrews, Carli C; Macera, Michael; Harkavy, Nina; Wapner, Ronald; Jobanputra, Vaidehi; Levy, Brynn; Ganapathi, Mythily; Liao, Jun

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

全外显子组测序在两名患有麦卡德尔病的成年人中检测到PYGM变异。

Thomas-Wilson, Amanda; Dharmadhikari, Avinash V; Heymann, Jonas J; Jobanputra, Vaidehi; DiMauro, Salvatore; Hirano, Michio; Naini, Ali B; Ganapathi, Mythily

Causal Genetic Variants in Stillbirth

死产的致病基因变异

Stanley, Kate E; Giordano, Jessica; Thorsten, Vanessa; Buchovecky, Christie; Thomas, Amanda; Ganapathi, Mythily; Liao, Jun; Dharmadhikari, Avinash V; Revah-Politi, Anya; Ernst, Michelle; Lippa, Natalie; Holmes, Halie; Povysil, Gundula; Hostyk, Joseph; Parker, Corette B; Goldenberg, Robert; Saade, George R; Dudley, Donald J; Pinar, Halit; Hogue, Carol; Reddy, Uma M; Silver, Robert M; Aggarwal, Vimla; Allen, Andrew S; Wapner, Ronald J; Goldstein, David B

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

利用微阵列技术检测拷贝数变异和纯合性片段,可在11020例临床外显子组病例中实现更精确的分子诊断。

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; Bi, Weimin

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

对超声检查异常且疑似患有孟德尔遗传病的胎儿进行临床外显子组测序

Normand, Elizabeth A; Braxton, Alicia; Nassef, Salma; Ward, Patricia A; Vetrini, Francesco; He, Weimin; Patel, Vipulkumar; Qu, Chunjing; Westerfield, Lauren E; Stover, Samantha; Dharmadhikari, Avinash V; Muzny, Donna M; Gibbs, Richard A; Dai, Hongzheng; Meng, Linyan; Wang, Xia; Xiao, Rui; Liu, Pengfei; Bi, Weimin; Xia, Fan; Walkiewicz, Magdalena; Van den Veyver, Ignatia B; Eng, Christine M; Yang, Yaping

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

NAA15 的截断变异与不同程度的智力障碍、自闭症谱系障碍和先天性异常有关。

Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J; de Vries, Bert B A; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K; Boycott, Kym M; Person, Richard; Willaert, Rebecca; Eichler, Evan E; Kooy, R Frank; Yang, Yaping; Wu, Joseph C; Lupski, James R; Arnesen, Thomas; Cooper, Gregory M; Chung, Wendy K; Gecz, Jozef; Stessman, Holly A F; Meng, Linyan; Lyon, Gholson J

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

在重症监护病房中,外显子组测序在婴儿中的应用:严重单基因疾病的鉴定及其对医疗管理的影响

Meng, Linyan; Pammi, Mohan; Saronwala, Anirudh; Magoulas, Pilar; Ghazi, Andrew Ray; Vetrini, Francesco; Zhang, Jing; He, Weimin; Dharmadhikari, Avinash V; Qu, Chunjing; Ward, Patricia; Braxton, Alicia; Narayanan, Swetha; Ge, Xiaoyan; Tokita, Mari J; Santiago-Sim, Teresa; Dai, Hongzheng; Chiang, Theodore; Smith, Hadley; Azamian, Mahshid S; Robak, Laurie; Bostwick, Bret L; Schaaf, Christian P; Potocki, Lorraine; Scaglia, Fernando; Bacino, Carlos A; Hanchard, Neil A; Wangler, Michael F; Scott, Daryl; Brown, Chester; Hu, Jianhong; Belmont, John W; Burrage, Lindsay C; Graham, Brett H; Sutton, Vernon Reid; Craigen, William J; Plon, Sharon E; Lupski, James R; Beaudet, Arthur L; Gibbs, Richard A; Muzny, Donna M; Miller, Marcus J; Wang, Xia; Leduc, Magalie S; Xiao, Rui; Liu, Pengfei; Shaw, Chad; Walkiewicz, Magdalena; Bi, Weimin; Xia, Fan; Lee, Brendan; Eng, Christine M; Yang, Yaping; Lalani, Seema R

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

肺泡毛细血管发育不良伴肺静脉错位的发病机制

Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V; Akdemir, Kadir Caner; Jhangiani, Shalini N; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G; Bateman, David A; Wilson, Ashley L; Markham, Melinda H; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A; Kelly, David R; Shieh, Joseph; Rosenthal, Taryn C; Scheible, Kristin; Steiner, Laurie; Iqbal, M Anwar; McKinnon, Margaret L; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R; DeNapoli, Thomas S; Littlejohn, Rebecca Okashah; Wolff, Daynna J; Wagner, Carol L; Yeung, Alison; Francis, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S; Kussmann, Jennifer L; Chawla, Jasneek; Payton, Diane J; Phillips, Gael E; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A; Langston, Claire; Lupski, James R; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł