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

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

700 例临床外显子组测序的分子诊断结果:我们能从回顾性分析中学到什么?

Murrell, Jill R; Nesbitt, Addie May I; Baker, Samuel W; Pechter, Kieran B; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H; DeChene, Elizabeth T; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D; Dulik, Matthew C; Conlin, Laura K; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H; Bedoukian, Emma C; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M; Deardorff, Matthew A; Medne, Livija; Krantz, Ian D; Krock, Bryan L; Santani, Avni B

A Centralized Approach for Practicing Genomic Medicine

基因组医学实践的集中式方法

Biswas, Sawona; Medne, Livija; Devkota, Batsal; Bedoukian, Emma; Berrodin, Donna; Izumi, Kosuke; Deardorff, Matthew A; Tarpinian, Jennifer; Leonard, Jacqueline; Pyle, Loiusa; Gray, Christopher; Montgomery, Jasmine; Williams, Tyrah; Fortunato, Sierra; Weatherly, Jamila; McEldrew, Deborah; Kaur, Manindar; Raible, Sarah E; Wilkens, Alisha; Spinner, Nancy B; Skraban, Cara; Krantz, Ian D

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

进一步阐明KAT6B疾病的临床谱系和致病变异的等位基因系列

Zhang, Li Xin; Lemire, Gabrielle; Gonzaga-Jauregui, Claudia; Molidperee, Sirinart; Galaz-Montoya, Carolina; Liu, David S; Verloes, Alain; Shillington, Amelle G; Izumi, Kosuke; Ritter, Alyssa L; Keena, Beth; Zackai, Elaine; Li, Dong; Bhoj, Elizabeth; Tarpinian, Jennifer M; Bedoukian, Emma; Kukolich, Mary K; Innes, A Micheil; Ediae, Grace U; Sawyer, Sarah L; Nair, Karippoth Mohandas; Soumya, Para Chottil; Subbaraman, Kinattinkara R; Probst, Frank J; Bassetti, Jennifer A; Sutton, Reid V; Gibbs, Richard A; Brown, Chester; Boone, Philip M; Holm, Ingrid A; Tartaglia, Marco; Ferrero, Giovanni Battista; Niceta, Marcello; Dentici, Maria Lisa; Radio, Francesca Clementina; Keren, Boris; Wells, Constance F; Coubes, Christine; Laquerrière, Annie; Aziza, Jacqueline; Dubucs, Charlotte; Nampoothiri, Sheela; Mowat, David; Patel, Millan S; Bracho, Ana; Cammarata-Scalisi, Francisco; Gezdirici, Alper; Fernandez-Jaen, Alberto; Hauser, Natalie; Zarate, Yuri A; Bosanko, Katherine A; Dieterich, Klaus; Carey, John C; Chong, Jessica X; Nickerson, Deborah A; Bamshad, Michael J; Lee, Brendan H; Yang, Xiang-Jiao; Lupski, James R; Campeau, Philippe M

Screening Rheumatic Heart Disease in 1530 New Caledonian Adolescents

对1530名新喀里多尼亚青少年进行风湿性心脏病筛查

Chatard, Jean-Claude; Dubois, Thomas; Espinosa, Florian; Kamblock, Joël; Ledos, Pierre-Henri; Tarpinian, Emmanuel; Da Costa, Antoine

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

对扩展的携带者筛查面板上的 176 个基因进行严重程度评估和分类

Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben-Shachar, Rotem; Hoffman, Jodi D; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N; Lewis, Andrea M; Magoulas, Pilar L; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A; Dineen, Richard; Goetsch, Allison; Lazarin, Gabriel A; Johansen Taber, Katherine

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

扩大 BAF 相关疾病谱:SMARCC2 基因的新生变异导致一种伴有智力障碍和发育迟缓的综合征

Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C; Sullivan, Jennifer A; Shashi, Vandana; Jiang, Yong-Hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F; Turner, Anne; Jones, Wendy D; van Hasselt, Peter M; Hofstede, Floris C; van Gassen, Koen L I; Brooks, Alice S; van Slegtenhorst, Marjon A; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D; Tarpinian, Jennifer M; Rosenfeld, Jill A; Lee, Brendan H; Campeau, Philippe M

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

组蛋白乙酰转移酶复合物组分基因TRRAP的错义变异会导致自闭症和综合征型智力障碍

Cogné, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R; Sanders, Stephan J; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S; Blyth, Moira; Lehman, Anna; Berg, Jonathan; Li, Mindy H; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T; Humberson, Jennifer B; Robak, Laurie; Scott, Daryl A; Sutton, Vernon R; Skraban, Cara M; Johnston, Jennifer J; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H; Bongers, Ernie M H F; Gilissen, Christian; Zarate, Yuri A; Kvarnung, Malin; Lally, Kevin P; Kulch, Peggy A; Daniels, Brina; Hernandez-Garcia, Andres; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R; Stray-Pedersen, Asbjorg; Tarpinian, Jennifer M; Klee, Eric W; Sapp, Julie C; Zyskind, Jacob; Holla, Øystein L; Bedoukian, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind L; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N; Dewan, Tammie; Coban Akdemir, Zeynep H; Telegrafi, Aida; Zackai, Elaine H; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid M; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertrand; Biesecker, Leslie G; Lowenstein, Dan; Posey, Jennifer E; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A F; Nellaker, Christoffer; Yang, Yaping; Lupski, James R; Goldstein, David B; Eichler, Evan E; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe M

Prospective evaluation of finger two-point discrimination and carpal tunnel syndrome among women with breast cancer receiving adjuvant aromatase inhibitor therapy

对接受辅助芳香化酶抑制剂治疗的乳腺癌女性患者进行手指两点辨别觉和腕管综合征的前瞻性评估

Sheng, Jennifer Y; Blackford, Amanda L; Bardia, Aditya; Venkat, Raghunandan; Rosson, Gedge; Giles, Jon; Hayes, Daniel F; Jeter, Stacie C; Zhang, Zhe; Hayden, Jill; Nguyen, Anne; Storniolo, Anna Maria; Tarpinian, Karineh; Henry, Norah Lynn; Stearns, Vered

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

一种复发性新生PACS2杂合错义变异导致新生儿期发病的发育性癫痫性脑病、面部畸形和小脑发育不全

Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; El Achkar, Christelle Moufawad; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Mau-Them, Frédéric Tran; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; Brunner, Han G; Keren, Boris; Thevenon, Julien; Faivre, Laurence; Thomas, Gary; Thauvin-Robinet, Christel

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

NACC1基因中一种反复出现的新生变异会导致一种综合征,其特征为婴儿期癫痫、白内障和严重的生长发育迟缓。

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana