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

Shared and distinct phenotypic profiles among neurodevelopmental disorder genes

神经发育障碍基因的共同和独特表型特征

Shimelis, Hermela; Oetjens, Matthew T; McGivern, Bobbi; Zhang, Zhancheng; Stanton, Janelle E; McSalley, Ian; Ganesan, Shiva; Finucane, Brenda M; Helbig, Ingo; Martin, Christa L; Myers, Scott M; Ledbetter, David H

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

PTEN 突变会通过扰乱脑室周围神经祖细胞来损害脑脊液动力学和皮层网络

DeSpenza Tyrone Jr, Kiziltug Emre, Allington Garrett, Barson Daniel G, McGee Stephen, O'Connor David, Robert Stephanie M, Mekbib Kedous Y, Nanda Pranav, Greenberg Ana B W, Singh Amrita, Duy Phan Q, Mandino Francesca, Zhao Shujuan, Lynn Anna, Reeves Benjamin C, Marlier Arnaud, Getz Stephanie A, Nelson-Williams Carol, Shimelis Hermela, Walsh Lauren K, Zhang Junhui, Wang Wei, Prina Mackenzi L, OuYang Annaliese, Abdulkareem Asan F, Smith Hannah, Shohfi John, Mehta Neel H, Dennis Evan, Reduron Laetitia R, Hong Jennifer, Butler William, Carter Bob S, Deniz Engin, Lake Evelyn M R, Constable R Todd, Sahin Mustafa, Srivastava Siddharth, Winden Kellen, Hoffman Ellen J, Carlson Marina, Gunel Murat, Lifton Richard P, Alper Seth L, Jin Sheng Chih, Crair Michael C, Moreno-De-Luca Andres, Luikart Bryan W, Kahle Kristopher T

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

一种新型的SMARCC1 BAF病与人类脑积水相关的神经祖细胞表观遗传失调有关

Singh Amrita K, Allington Garrett, Viviano Stephen, McGee Stephen, Kiziltug Emre, Ma Shaojie, Zhao Shujuan, Mekbib Kedous Y, Shohfi John P, Duy Phan Q, DeSpenza Tyrone Jr, Furey Charuta G, Reeves Benjamin C, Smith Hannah, Sousa André M M, Cherskov Adriana, Allocco August, Nelson-Williams Carol, Haider Shozeb, Rizvi Syed R A, Alper Seth L, Sestan Nenad, Shimelis Hermela, Walsh Lauren K, Lifton Richard P, Moreno-De-Luca Andres, Jin Sheng Chih, Kruszka Paul, Deniz Engin, Kahle Kristopher T

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

自闭症基因KATNAL2的致病变异会导致脑积水,并通过损害纤毛微管动力学来破坏神经元连接。

DeSpenza, Tyrone Jr; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L; Desmet, Nicole; Dang, Huy Q; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y; Dennis, Evan; Mehta, Neel H; Duy, Phan Q; Shimelis, Hermela; Walsh, Lauren K; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M R; Constable, R Todd; Hoffman, Ellen J; Lifton, Richard P; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L; Jin, Sheng Chih; Kahle, Kristopher T; Luikart, Bryan W

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

一种新型SMARCC1突变型BAF病与脑积水相关的神经祖细胞表观遗传失调有关

Singh, Amrita K; Viviano, Stephen; Allington, Garrett; McGee, Stephen; Kiziltug, Emre; Mekbib, Kedous Y; Shohfi, John P; Duy, Phan Q; DeSpenza, Tyrone; Furey, Charuta G; Reeves, Benjamin C; Smith, Hannah; Ma, Shaojie; Sousa, André M M; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R A; Alper, Seth L; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K; Lifton, Richard P; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population

医疗保健系统人群中截短型FLCN变异体和Birt-Hogg-Dubé相关表型的频率

Savatt, Juliann M; Shimelis, Hermela; Moreno-De-Luca, Andres; Strande, Natasha T; Oetjens, Matthew T; Ledbetter, David H; Martin, Christa Lese; Myers, Scott M; Finucane, Brenda M

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

Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

乳腺癌女性多基因遗传癌症检测结果的种族和民族差异

Yadav, Siddhartha; LaDuca, Holly; Polley, Eric C; Hu, Chunling; Niguidula, Nancy; Shimelis, Hermela; Lilyquist, Jenna; Na, Jie; Lee, Kun Y; Gutierrez, Stephanie; Yussuf, Amal; Hart, Steven N; Davis, Brigette Tippin; Chao, Elizabeth C; Pesaran, Tina; Goldgar, David E; Dolinsky, Jill S; Couch, Fergus J

The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort

临床基因检测队列中种系易感基因突变对浸润性乳腺癌临床亚型的影响

Hu, Chunling; Polley, Eric C; Yadav, Siddhartha; Lilyquist, Jenna; Shimelis, Hermela; Na, Jie; Hart, Steven N; Goldgar, David E; Shah, Swati; Pesaran, Tina; Dolinsky, Jill S; LaDuca, Holly; Couch, Fergus J