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Q

Qiliang Ding

Mayo Clinic
H指数:11
被引数:907

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A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物成分基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

The American Journal of Human Genetics
IF0
2026-02-110
OAAI
Esra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie
DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases

通过携带者筛查鉴定的DMD重复变异不应自动归类为[可能]致病性：15例长读长测序数据

CLINICAL CHEMISTRY
IF6.3
2025-10-010
OAAI
Hasadsri, Linda; Ding, Qiliang; Balan, Jagadheshwar; Vidal-Folch, Noemi; Pickart, Angela; Sun, Guangchao; Walsh, Jesse; Majumdar, Ramanath; Klee, Eric; Murphy, Stephen; Oglesbee, Devin; Rowsey, Ross
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合体成分基因EIF3A和EIF3B的失活突变引起的心血管、颅面和神经发育障碍

The American Journal of Human Genetics
IF0
2025-09-300
OAAI
Esra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie; Luis F. Escobar; Rachel Gosselin; Maria J. Guillen Sacoto; Cynthia D. Haag; Lisa Herzig; Ramanand Jeeneea; Priti Kenia; Konstantinos Kolokotronis; Anna M. Kopps; Christin Kupper; Hayley Lees; Jacqueline Leonard; Jonathan Levy; Rebecca Littlejohn; Demian Mayer; Scott D. McLean; Nikhil Pattani; Laurence Perrin; Véronique Pingault; Chloé Quelin; Emmanuelle Ranza; Anita Rauch; Sara L. Reichert; Joana Rosmaninho-Salgado; Cara Skraban; Sérgio Sousa; Melissa Stuebben; Paolo Zanoni; Raymond H. Kim; Ian C. Scott; Rebekah K. Jobling
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing

重新思考通过携带者筛查检测到的基因内DMD重复片段的致病性：长读长测序揭示了非串联重复片段的高发生率

Genetics in Medicine
IF6.2
2025-08-050
PRE
Qiliang Ding; Jagadheshwar Balan; Noemi Vidal-Folch; Angela M. Pickart; Guangchao Sun; Jesse R. Walsh; Ramanath Majumdar; Eric W. Klee; Stephen J. Murphy; Devin Oglesbee; Ross A. Rowsey; Linda Hasadsri
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

SCIP: 通过全基因组测序检测到的拷贝数变异的有效临床解释软件

HUMAN GENETICS
IF3.6
2022-11-143
OAAI
Ding, Qiliang; Somerville, Cherith; Manshaei, Roozbeh; Trost, Brett; Reuter, Miriam S.; Kalbfleisch, Kelsey; Stanley, Kaitlin; Okello, John B. A.; Hosseini, S. Mohsen; Liston, Eriskay; Curtis, Meredith; Zarrei, Mehdi; Higginbotham, Edward J.; Chan, Ada J. S.; Engchuan, Worrawat; Thiruvahindrapuram, Bhooma; Scherer, Stephen W.; Kim, Raymond H.; Jobling, Rebekah K.

研究方向

暂未获取到该数据
Y
Ya Hu
H 指数:27论文数:142被引数:2,336
李金 封面图
李金
H 指数:149论文数:4,500被引数:12.8万
A
Amnon Koren
H 指数:29论文数:111被引数:1.0万
徐
徐书华
H 指数:54论文数:381被引数:1.3万
王传超 封面图
王传超
H 指数:40论文数:292被引数:7,101
R
Roozbeh Manshaei
H 指数:13论文数:52被引数:693
L
Linda Hasadsri
H 指数:22论文数:110被引数:2,252
R
Ross Rowsey
H 指数:13论文数:90被引数:620
C
Cherith Somerville
H 指数:4论文数:24被引数:363
E
Eric W. Klee
H 指数:54论文数:461被引数:1.1万