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Xueyang Pan

baylor college of medicine
H指数:18
被引数:1,346

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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder

RARE HETEROZYGOUS DE NOVO VARIANTS IN RAPGEF2与神经发育障碍相关

Genetics in Medicine
IF6.2
2026-02-010
PRE
Bereshneh, Ali H.; Wilson, Kirkland A.; Pan, Xueyang; Hannan, Shabab B.; Cooper, Megan A.; Diaz, Jullianne; Leon, Eyby; Moses, Tiana M.; Azamian, Mahshid S.; Scott, Daryl A.; Au, Ping Yee Billie; Appendino, Juan Pablo; Scheffer, Ingrid E.; Kaspi, Antony; Bahlo, Melanie; Hildebrand, Michael S.; Morgan, Angela T.; Ekure, Ekanem; Shulman, Joshua M.; Hildebrandt, Friedhelm; Posey, Jennifer E.; Kruszka, Paul; Vilain, Eric; Yamamoto, Shinya; Kanca, Oguz; Berger, Seth; Bellen, Hugo J.
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

ClinGen严重联合免疫缺陷病变异注释专家小组：ADA、DCLRE1C、IL2RG、IL7R、JAK3、RAG1和RAG2变异分类规范

Genetics in Medicine
IF6.2
2025-10-140
PRE
Vanessa C. Jacovas; Michelle Zelnick; Shannon McNulty; Justyne E. Ross; Namrata Khurana; Xueyang Pan; Alejandro Nieto; Shiloh Martin; Benjamin McLean; Marwa A. Elnagheeb; Morton J. Cowan; Jennifer M. Puck; Mike Hershfield; James Verbsky; Jolan Walter; Eric Allenspach; Alice Y. Chan; Nicolai S.C. van Oers; Rajarshi Ghosh; Megan Piazza; Bo Yuan; Luigi D. Notarangelo; Britt A. Johnson; Ivan K. Chinn
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
GENETICS IN MEDICINE
IF6.2
2024-07-010
PRE
Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J.
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-012
OAAI
Pan, Xueyang; Tao, Alice M.; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B.; Slaugh, Rachel; Williams, Sarah Drewes; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T.; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E.; Newburger, Jane W.; Revah-Politi, Anya; Granadillo, Jorge L.; Stegmann, Alexander P. A.; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E. H.; Sweetser, David A.; Glinton, Kevin E.; Kirk, Susan E.; Wangler, Michael F.; Yamamoto, Shinya; Chung, Wendy K.; Bellen, Hugo J.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
BRAIN
IF11.7
2023-01-3014
OA
Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D.; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K. G.; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C.; Sadjadi, Reza; Elpeleg, Orly; Lee, Chia-Hsueh; Bellen, Hugo J.; Edvardson, Simon; Eichler, Florian; Dunn, Teresa M.
De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-10-0113
OAAI
Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A.; Jankovic, Joseph; Sutton, V. Reid; Bartley, James A.; Wang, Xueying; Rosenfeld, Jill A.; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F.; Dai, Yuwei; Bellen, Hugo J.

研究方向

暂未获取到该数据
H
Hugo J. Bellen
H 指数:117论文数:612被引数:4.7万
S
Shenzhao Lu
H 指数:14论文数:41被引数:596
M
Michael B. O’Connor
H 指数:79论文数:288被引数:2.1万
M
Ma, Mengqi
H 指数:0论文数:1被引数:39
Y
Yu An
H 指数:46论文数:167被引数:6,971
Y
Yan Pan
H 指数:33论文数:150被引数:3,992
J
Jing Han
H 指数:27论文数:131被引数:2,434
O
Oguz Kanca
H 指数:24论文数:103被引数:2,527
李学军 封面图
李学军
H 指数:53论文数:607被引数:1.3万
M
Michael F. Wangler
H 指数:51论文数:237被引数:8,449