logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
A

Anushree Acharya

University of Arizona
H指数:20
被引数:1,227

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome

杂合子CECR2变异支持一种具有与猫眼综合征重叠特征的独特神经发育综合征

Human Genetics and Genomics Advances
IF3.6
2026-04-090
OAAI
Anushree Acharya; Irma Järvelä; Andrea Hernandez; Yasmin Rajendran; Thashi Bharadwaj; Dana H. Goodloe; Susan M. Hiatt; Jennifer Morrison; Patricia G. Wheeler; Jesse M. Hunter; Rachel Supinger; Scott E. Hickey; Andrea K. Petersen; Kari Magnussen; Marcello Scala; Pasquale Striano; Federico Zara; Juha Leppälä; Suzanne M. Leal; Isabelle Schrauwen
Novel Variants Identified in Families With SNX27-Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum

在SNX27相关神经发育障碍家族中鉴定出的新型变异，有助于表征其基因型和表型谱

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
IF1.5
2026-01-010
PRE
Shan, Tayyaba; Hussain, Abrar; Acharya, Anushree; Hussain, Mulazim; Li, Yumei; Hussain, Hafiz Muhammad Jafar; Afshan, Kiran; Leal, Suzanne M.; Chen, Rui; Mir, Asif; Schrauwen, Isabelle; Firasat, Sabika
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-01-011
OAAI
Yalcouye, Abdoulaye; Schrauwen, Isabelle; Traore, Oumou; Bamba, Salia; Aboagye, Elvis Twumasi; Acharya, Anushree; Bharadwaj, Thashi; Latanich, Rachel; Esoh, Kevin; Fortes-Lima, Cesar A.; de Kock, Carmen; Jonas, Mario; Maiga, Alassane dit Baneye; Cisse, Cheick A. K.; Sangare, Moussa A.; Guinto, Cheick O.; Landoure, Guida; Leal, Suzanne M.; Wonkam, Ambroise
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
COMMUNICATIONS BIOLOGY
IF5.1
2022-04-1912
OAAI
Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Sanchez, Diana M. Cornejo; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L.; Kadlubowska, Magda K.; Nouel-Saied, Liz M.; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K.; Awandare, Gordon A.; Leal, Suzanne M.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
JOURNAL OF MEDICAL GENETICS
IF3.7
2021-07-2812
OA
Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Melanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenjar, Alexandra; Courtin, Thomas; Heide, Solveig; Font-Montgomery, Esperanza; Heid, Caleb; Hamm, J. Austin; Love, Donald R.; Thabet, Farouq; Misra, Vinod K.; Cunningham, Mitch; Leal, Suzanne M.; Jarvela, Irma; Normand, Elizabeth A.; Zou, Fanggeng; Helal, Mayada; Keren, Boris; Torti, Erin; Chung, Wendy K.; Schrauwen, Isabelle
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-06-169
OAAI
Bharadwaj, Thashi; Schrauwen, Isabelle; Rehman, Sakina; Liaqat, Khurram; Acharya, Anushree; Giese, Arnaud P. J.; Nouel-Saied, Liz M.; Nasir, Abdul; Everard, Jenna L.; Pollock, Lana M.; Zhu, Shaoyuan; Bamshad, Michael J.; Nickerson, Deborah A.; Ali, Raja Hussain; Ullah, Asmat; Wali, Abdul; Ali, Ghazanfar; Santos-Cortez, Regie Lyn P.; Ahmed, Zubair M.; McDermott Jr, Brian M.; Ansar, Muhammad; Riazuddin, Saima; Ahmad, Wasim; Leal, Suzanne M.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
HUMAN GENETICS
IF3.6
2021-03-1231
OAAI
Jarvela, Irma; Maatta, Tuomo; Acharya, Anushree; Leppala, Juha; Jhangiani, Shalini N.; Arvio, Maria; Siren, Auli; Kankuri-Tammilehto, Minna; Kokkonen, Hannaleena; Palomaki, Maarit; Varilo, Teppo; Fang, Mary; Hadley, Trevor D.; Jolly, Angad; Linnankivi, Tarja; Paetau, Ritva; Saarela, Anni; Kalviainen, Reetta; Olme, Jan; Nouel-Saied, Liz M.; Cornejo-Sanchez, Diana M.; Llaci, Lorida; Lupski, James R.; Posey, Jennifer E.; Leal, Suzanne M.; Schrauwen, Isabelle

研究方向

暂未获取到该数据
S
Suzanne M. Leal
H 指数:74论文数:383被引数:3.0万
I
Isabelle Schrauwen
H 指数:34论文数:172被引数:3,679
W
Wasim Ahmad
H 指数:46论文数:357被引数:8,994
M
Michael J. Bamshad
H 指数:96论文数:552被引数:4.5万
T
Thashi Bharadwaj
H 指数:10论文数:39被引数:263
D
Deborah A. Nickerson
H 指数:120论文数:675被引数:10.1万
M
Muhammad Ansar
H 指数:32论文数:170被引数:4,389
K
Kwanghyuk Lee
H 指数:21论文数:37被引数:1,598
S
Saima Riazuddin
H 指数:52论文数:207被引数:9,632
R
Regie Lyn P. Santos‐Cortez
H 指数:18论文数:66被引数:1,198