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S

Shannon McNulty

University of North Carolina
H指数:10
被引数:1,469

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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
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异整理指南中关于体细胞PALB2序列变异分析的规定

american journal of human genetics
IF0
2025-09-170
OAAI
Marcy E. Richardson; Megan F.H. Bishop; Megan A. Holdren; Miguel de la Hoya; Amanda B. Spurdle; Sean V. Tavtigian; Terra Brannan; Colin C. Young; Lauren Zec; Susan Hiraki; Clare Turnbull; Marc Tischkowitz; Kara A. Bernstein; Jean-Yves Masson; Shannon M. McNulty; Tina Pesaran; Alvaro N. Monteiro; Logan C. Walker; William D. Foulkes; Fergus J. Couch
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
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

用于分析种系ATM序列变体的ACMG/AMP变体管理指南的规范

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-11-010
OAAI
Richardson, Marcy E.; Holdren, Megan; Brannan, Terra; de la Hoya, Miguel; Spurdle, Amanda B.; V. Tavtigian, Sean; Young, Colin C.; Zec, Lauren; Hiraki, Susan; Anderson, Michael J.; Walker, Logan C.; Mcnulty, Shannon; Turnbull, Clare; Tischkowitz, Marc; Schon, Katherine; Slavin, Thomas; Foulkes, William D.; Cline, Melissa; Monteiro, Alvaro N.; Pesaran, Tina; Couch, Fergus J.
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2024-08-301
OAAI
Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R.; Beckmann, Jacques S.; Bronicki, Lucas; Cooper, Sandra T.; Ganesh, Vijay S.; Kang, Peter B.; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J.; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C.
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-270
OA
Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
JOURNAL OF CLINICAL IMMUNOLOGY
IF5.7
2022-08-1020
OAAI
Geier, Christoph B.; Ellison, Maryssa; Cruz, Rachel; Pawar, Sumit; Leiss-Piller, Alexander; Zmajkovicova, Katarina; McNulty, Shannon M.; Yilmaz, Melis; Evans, Martin Oman, II; Gordon, Sumai; Ujhazi, Boglarka; Wiest, Ivana; Abolhassani, Hassan; Aghamohammadi, Asghar; Barmettler, Sara; Bhar, Saleh; Bondarenko, Anastasia; Bolyard, Audrey Anna; Buchbinder, David; Cada, Michaela; Cavieres, Mirta; Connelly, James A.; Dale, David C.; Deordieva, Ekaterina; Dorsey, Morna J.; Drysdale, Simon B.; Ehl, Stephan; Elfeky, Reem; Fioredda, Francesca; Firkin, Frank; Forster-Waldl, Elizabeth; Geng, Bob; Goda, Vera; Gonzalez-Granado, Luis; Grunebaum, Eyal; Grzesk, Elzbieta; Henrickson, Sarah E.; Hilfanova, Anna; Hiwatari, Mitsuteru; Imai, Chihaya; Ip, Winnie; Jyonouchi, Soma; Kanegane, Hirokazu; Kawahara, Yuta; Khojah, Amer M.; Kim, Vy Hong-Diep; Kojic, Marina; Koltan, Sylwia; Krivan, Gergely; Langguth, Daman; Lau, Yu-Lung; Leung, Daniel; Miano, Maurizio; Mersyanova, Irina; Mousallem, Talal; Muskat, Mica; Naoum, Flavio A.; Noronha, Suzie A.; Ouederni, Monia; Ozono, Shuichi; Richmond, G. Wendell; Sakovich, Inga; Salzer, Ulrich; Schuetz, Catharina; Seeborg, Filiz Odabasi; Sharapova, Svetlana O.; Sockel, Katja; Volokha, Alla; von Bonin, Malte; Warnatz, Klaus; Wegehaupt, Oliver; Weinberg, Geoffrey A.; Wong, Ke-Juin; Worth, Austen; Yu, Huang; Zharankova, Yulia; Zhao, Xiaodong; Devlin, Lisa; Badarau, Adriana; Csomos, Krisztian; Keszei, Marton; Pereira, Joao; Taveras, Arthur G.; Beaussant-Cohen, Sarah L.; Ong, Mei-Sing; Shcherbina, Anna; Walter, Jolan E.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

在九项基因组实施研究中使用acmg-amp变体解释指南进行变体分类一致性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2020-11-0159
OAAI
Amendola, Laura M.; Muenzen, Kathleen; Biesecker, Leslie G.; Bowling, Kevin M.; Cooper, Greg M.; Dorschner, Michael O.; Driscoll, Catherine; Foreman, Ann Katherine M.; Golden-Grant, Katie; Greally, John M.; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J.; Kenny, Eimear E.; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C.; Rehm, Heidi L.; Rolf, Bradley; Roman, Tamara S.; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P.

研究方向

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B
Beth A. Sullivan
H 指数:37论文数:122被引数:1.0万
M
Marwa Elnagheeb
H 指数:4论文数:27被引数:186
J
Justyne Ross
H 指数:9论文数:33被引数:530
M
Marcy E. Richardson
H 指数:19论文数:168被引数:1,690
C
Clare Turnbull
H 指数:68论文数:329被引数:2.2万
A
Amanda B. Spurdle
H 指数:95论文数:815被引数:4.0万
W
William D. Foulkes
H 指数:125论文数:1,172被引数:6.1万
M
Marc Tischkowitz
H 指数:89论文数:516被引数:3.4万
F
Fergus J. Couch
H 指数:119论文数:1,336被引数:6.0万
J
Jolán E. Walter
H 指数:44论文数:317被引数:6,735