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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L 的缺失会扰乱神经元转录,并导致神经发育障碍。

Maroni, Marissa J; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R; Campbell, Philip D; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Víctor; Repetto, Gabriela M; McKenna, Caoimhe; Shillington, Amelle L; Phornphutkul, Chanika; Hove, Hanne B; Mancini, Grazia M S; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Héron, Delphine; van Aalst, Minke M A; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L; Kozenko, Mariya A; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, François; Cassinari, Kévin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina I; Bakhtiari, Somayeh; Mester, Jessica L; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由PPFIA3基因罕见变异引起的综合征性神经发育障碍

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

在ACMG/AMP指南下,校准患者表型作为癌症基因变异分类证据的挑战和方法

Fortuno, Cristina; Michailidou, Kyriaki; Parsons, Michael; Dolinsky, Jill S; Pesaran, Tina; Yussuf, Amal; Mester, Jessica L; Hruska, Kathleen S; Hiraki, Susan; O'Connor, Robert; Chan, Raymond C; Kim, Serra; Tavtigian, Sean V; Goldgar, David; James, Paul A; Spurdle, Amanda B

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

ACMG/AMP 变异分类指南中关于种系 DICER1 变异注释的规范

Hatton, Jessica N; Frone, Megan N; Cox, Hannah C; Crowley, Stephanie B; Hiraki, Susan; Yokoyama, Noriko N; Abul-Husn, Noura S; Amatruda, James F; Anderson, Michael J; Bofill-De Ros, Xavier; Carr, Ann G; Chao, Elizabeth C; Chen, Kenneth S; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann; Soper, Emily R; Wu, Mona K; Mester, Jessica L; Kim, Jung; Foulkes, William D; Witkowski, Leora; Stewart, Douglas R

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

PPFIA3基因的罕见变异会导致发育迟缓、智力障碍、自闭症和癫痫。

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Pichon, Jean-Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Pichon, Anne-Sophie Denommé-; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Network, Undiagnosed Diseases; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

ClinGen变异注释界面:一个用于应用ACMG/AMP指南证据标准的变异分类平台

Preston, Christine G; Wright, Matt W; Madhavrao, Rao; Harrison, Steven M; Goldstein, Jennifer L; Luo, Xi; Wand, Hannah; Wulf, Bryan; Cheung, Gloria; Mandell, Mark E; Tong, Howard; Cheng, Shaung; Iacocca, Michael A; Pineda, Arturo Lopez; Popejoy, Alice B; Dalton, Karen; Zhen, Jimmy; Dwight, Selina S; Babb, Lawrence; DiStefano, Marina; O'Daniel, Julianne M; Lee, Kristy; Riggs, Erin R; Zastrow, Diane B; Mester, Jessica L; Ritter, Deborah I; Patel, Ronak Y; Subramanian, Sai Lakshmi; Milosavljevic, Aleksander; Berg, Jonathan S; Rehm, Heidi L; Plon, Sharon E; Cherry, J Michael; Bustamante, Carlos D; Costa, Helio A

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

PTEN变异体鉴定的基因特异性标准:ClinGen PTEN专家组的建议

Mester, Jessica L; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S; Costa, Helio A; Lachlan, Katherine; Ngeow, Joanne; Barnholtz-Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E; Hegde, Madhuri; Eng, Charis

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

ClinGen变异注释专家组在疾病和基因水平上对ACMG/AMP序列变异解读指南进行规范化方面的经验和标准化流程

Rivera-Muñoz, Edgar A; Milko, Laura V; Harrison, Steven M; Azzariti, Danielle R; Kurtz, C Lisa; Lee, Kristy; Mester, Jessica L; Weaver, Meredith A; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E; Mao, Rong; Steiner, Robert D; Vincent, Lisa M; Martin, Christa L; Plon, Sharon E; Ramos, Erin; Rehm, Heidi L; Watson, Michael; Berg, Jonathan S

Germline PARP4 mutations in patients with primary thyroid and breast cancers

原发性甲状腺癌和乳腺癌患者的种系PARP4突变

Ikeda, Yuji; Kiyotani, Kazuma; Yew, Poh Yin; Kato, Taigo; Tamura, Kenji; Yap, Kai Lee; Nielsen, Sarah M; Mester, Jessica L; Eng, Charis; Nakamura, Yusuke; Grogan, Raymon H

Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study

子宫内膜癌伴考登综合征及类似考登综合征患者的种系PTEN、SDHB-D和KLLN基因改变:一项国际多中心前瞻性研究

Mahdi, Haider; Mester, Jessica L; Nizialek, Emily A; Ngeow, Joanne; Michener, Chad; Eng, Charis