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A

Andrew J. Sharp

Mindich Child Health and Development Institute
H指数:52
被引数:1.3万

个人简介

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荣誉奖项

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Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
Genome Medicine
IF11.2
2026-07-220
OA
Christy W. LaFlamme; Chris Clarkson; Kristina Ibañez; Jin-Yuan Wang; Soham Sengupta; Jenny Lord; Virginia Valentine; Emily S. Bonkowski; Edith P. Almanza Fuerte; Athena R. Olszewski; Sourav Ghosh; Bharati Jadhav; Taralynn Mack; Jiadong Lin; Sophia B. Gibson; Johanna M. van Hagen; Mariëlle Alders; Alexandra Martin-Geary; Bida Gu; Mira Kharbanda; Siddharth Banka; Helen M. Stuart; Andrew R. Webster; Akimoto Hosokawa; Harriet Dashnow; Richa Bajpai; Shondra M. Pruett-Miller; Mark J.P. Chaisson; Danny E. Miller; Nicola Whiffin; Evan E. Eichler; Sanjay M. Sisodiya; Henry Houlden; Andrew J. Sharp; Bekim Sadikovic; Marc Valentine; Lynette G. Sadleir; Arianna Tucci; Heather C. Mefford
Increased frequency of repeat expansion mutations across different populations

不同人群重复扩增突变的频率增加

NATURE MEDICINE
IF50
2024-10-013
OAAI
Ibanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

甲基化富含GC重复序列的全表型关联研究确定了AFF3中与智力障碍相关的GCC重复序列扩展

NATURE GENETICS
IF31.8
2024-09-231
PRE
Jadhav, Bharati; Garg, Paras; van Vugt, Joke J. F. A.; Ibanez, Kristina; Gagliardi, Delia; Lee, William; Shadrina, Mariya; Mokveld, Tom; Dolzhenko, Egor; Martin-Trujillo, Alejandro; Gies, Scott J.; Altman, Gabrielle; Rocca, Clarissa; Barbosa, Mafalda; Jain, Miten; Lahiri, Nayana; Lachlan, Katherine; Houlden, Henry; Paten, Benedict; Veldink, Jan; Tucci, Arianna; Sharp, Andrew J.
A meta-analysis of epigenome-wide association studies in Alzheimer's disease highlights novel differentially methylated loci across cortex

阿尔茨海默氏病表观基因组全关联研究的荟萃分析突出了皮质中新的差异甲基化位点

NATURE COMMUNICATIONS
IF15.7
2021-06-1060
OAAI
Smith, Rebecca G.; Pishva, Ehsan; Shireby, Gemma; Smith, Adam R.; Roubroeks, Janou A. Y.; Hannon, Eilis; Wheildon, Gregory; Mastroeni, Diego; Gasparoni, Gilles; Riemenschneider, Matthias; Giese, Armin; Sharp, Andrew J.; Schalkwyk, Leonard; Haroutunian, Vahram; Viechtbauer, Wolfgang; van den Hove, Daniel L. A.; Weedon, Michael; Brokaw, Danielle; Francis, Paul T.; Thomas, Alan J.; Love, Seth; Morgan, Kevin; Walter, Joern; Coleman, Paul D.; Bennett, David A.; De Jager, Philip L.; Mill, Jonathan; Lunnon, Katie
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles
PLOS GENETICS
IF3.7
2020-11-2023
OAAI
Martin-Trujillo, Alejandro; Patel, Nihir; Richter, Felix; Jadhav, Bharati; Garg, Paras; Morton, Sarah U.; McKean, David M.; DePalma, Steven R.; Goldmuntz, Elizabeth; Gruber, Dorota; Kim, Richard; Newburger, Jane W.; Porter, George A., Jr.; Giardini, Alessandro; Bernstein, Daniel; Tristani-Firouzi, Martin; Seidman, Jonathan G.; Seidman, Christine E.; Chung, Wendy K.; Gelb, Bruce D.; Sharp, Andrew J.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-09-0134
OAAI
Breen, Michael S.; Garg, Paras; Tang, Lara; Mendonca, Danielle; Levy, Tess; Barbosa, Mafalda; Arnett, Anne B.; Kurtz-Nelson, Evangeline; Agolini, Emanuele; Battaglia, Agatino; Chiocchetti, Andreas G.; Freitag, Christine M.; Garcia-Alcon, Alicia; Grammatico, Paola; Hertz-Picciotto, Irva; Ludena-Rodriguez, Yunin; Moreno, Carmen; Novelli, Antonio; Parellada, Mara; Pascolini, Giulia; Tassone, Flora; Grice, Dorothy E.; Di Marino, Daniele; Bernier, Raphael A.; Kolevzon, Alexander; Sharp, Andrew J.; Buxbaum, Joseph D.; Siper, Paige M.; De Rubeis, Silvia

研究方向

暂未获取到该数据
P
Paras Garg
H 指数:19论文数:60被引数:2,078
E
Evan E. Eichler
H 指数:191论文数:877被引数:20.8万
C
Corey T. Watson
H 指数:45论文数:202被引数:7,391
B
Bharati Jadhav
H 指数:12论文数:66被引数:707
A
Alejandro Martin-Trujillo
H 指数:12论文数:29被引数:638
S
Stylianos E. Antonarakis
H 指数:146论文数:921被引数:10.4万
H
Heather C. Mefford
H 指数:72论文数:401被引数:2.3万
S
Samantha J.L. Knight
H 指数:54论文数:145被引数:1.1万
N
Nihir Patel
H 指数:12论文数:37被引数:745
C
Christelle Borel
H 指数:41论文数:92被引数:6,938