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J

Justyne Ross

University of North Carolina at Chapel Hill
H指数:9
被引数:529

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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
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定

Journal of Neuromuscular Diseases
IF3.4
2025-06-100
PRE
Justyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework

使用ClinGen验证框架对原发性抗体缺陷症的基因-疾病关系进行整理

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2025-01-010
PRE
Nieto-Patlan, Alejandro; Ross, Justyne; Mohan, Shruthi; Paczosa, Michelle K.; Soliman, Rasha; Sarmento, Olga; Aliu, Ermal; Thiyagarajan, Lavvina; Chandra, Anita; Picard, Capucine; Warnatz, Klaus; Jolles, Stephen; Lesmana, Harry; Maglione, Paul J.; Platt, Craig D.; Sediva, Anna; Sullivan, Kathleen E.; Zhang, Kejian; Raval, Forum; Tangye, Stuart G.; Abraham, Roshini S.
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
IF5
2024-03-011
PRE
Ross, Justyne E.; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J.; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; Mcdougal, Dara; Botero, Juliana Perez; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I.; Megy, Karyn; Morange, Pierre -Emmanuel; Morgan, Neil, V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P.
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel
BLOOD ADVANCES
IF7.1
2021-01-2021
OA
Ross, Justyne E.; Zhang, Bing M.; Lee, Kristy; Mohan, Shruthi; Branchford, Brian R.; Bray, Paul; Dugan, Stefanie N.; Freson, Kathleen; Heller, Paula G.; Kahr, Walter H. A.; Lambert, Michele P.; Luchtman-Jones, Lori; Luo, Minjie; Botero, Juliana Perez; Rondina, Matthew T.; Ryan, Gabriella; Westbury, Sarah; Bergmeier, Wolfgang; Di Paola, Jorge
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

ClinGen骨髓恶性肿瘤变异治疗专家小组对种系RUNX1变异的建议

BLOOD ADVANCES
IF7.1
2019-10-16105
OA
Luo, Xi; Feurstein, Simone; Mohan, Shruthi; Porter, Christopher C.; Jackson, Sarah A.; Keel, Sioban; Chicka, Michael; Brown, Anna L.; Kesserwan, Chimene; Agarwal, Anupriya; Luo, Minjie; Li, Zejuan; Ross, Justyne E.; Baliakas, Panagiotis; Pineda-Alvarez, Daniel; DiNardo, Courtney D.; Bertuch, Alison A.; Mehta, Nikita; Vulliamy, Tom; Wang, Ying; Nichols, Kim E.; Malcovati, Luca; Walsh, Michael F.; Rawlings, Lesley H.; McWeeney, Shannon K.; Soulier, Jean; Raimbault, Anna; Routbort, Mark J.; Zhang, Liying; Ryan, Gabriella; Speck, Nancy A.; Plon, Sharon E.; Wu, David; Godley, Lucy A.

研究方向

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S
Shruthi Mohan
H 指数:12论文数:71被引数:694
K
Kristy Lee
H 指数:31论文数:142被引数:5,090
K
Kathleen Freson
H 指数:52论文数:332被引数:1.3万
M
Michele P. Lambert
H 指数:47论文数:307被引数:9,322
J
Jorge Di Paola
H 指数:33论文数:222被引数:5,175
S
Shannon McNulty
H 指数:10论文数:36被引数:1,468
M
Minjie Luo
H 指数:28论文数:166被引数:2,597
J
Juliana Perez Botero
H 指数:16论文数:77被引数:1,497
P
Paul F. Bray
H 指数:62论文数:260被引数:1.3万
M
Matthew T. Rondina
H 指数:59论文数:323被引数:1.3万