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S

Shruthi Mohan

university of north carolina school of medicine
H指数:12
被引数:694

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荣誉奖项

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Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine
MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-02-010
PRE
Goldstein, Jennifer; Balog, Amanda; Bali, Deeksha; Reeves, Emily E. B.; Demirbas, Didem; Fernandez, Raquel; Giliberto, Florencia; Groopman, Emily; Hung, Christina; Lacaria, Melanie; Mao, Rong; Mohan, Shruthi; Peck, Dawn; Pollard, Laura; Rehder, Catherine; Savatt, Juliann; Schmidt, Ryan; St Clair, Pepper; Vairo, Filippo; White, Amy; Wood, Tim; Clarke, Lorne A.
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.
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

使用ClinGen临床有效性框架评估溶酶体疾病中涉及的基因

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-11-010
OAAI
Groopman, Emily; Mohan, Shruthi; Waddell, Amber; Wilke, Matheus; Fernandez, Raquel; Weaver, Meredith; Chen, Hongjie; Liu, Hongbin; Bali, Deeksha; Baudet, Heather; Clarke, Lorne; Hung, Christina; Mao, Rong; Vairo, Filippo Pinto e; Racacho, Lemuel; Yuzyuk, Tatiana; Craigen, William J.; Goldstein, Jennifer
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.
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-010
PRE
Groopman, Emily; Goldstein, Jenny; Dickson, Alexa; Zastrow, Diane; Mohan, Shruthi; Thomas-Wilson, Amanda; Caldovic, Ljubica; Kyle, Emily; Yuzyuk, Tatiana; De Biase, Irene; Simpson, Kara; Kanavy, Dona; Spector, Elaine; Pasquali, Marzia; Rehder, Catherine; Stergachis, Andrew; Whirl-Carlo, Michelle; Baudet, Heather; Hung, Christina; Braverman, Nancy E.; Mercimek-Andrews, Saadet; Weaver, Meredith; Craigen, William; Mao, Rong
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.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

在智力障碍/自闭症测序面板上经常测试的基因的临床有效性评估

GENETICS IN MEDICINE
IF6.2
2022-09-0115
OAAI
Riggs, Erin Rooney; Bingaman, Taylor, I; Barry, Carrie-Ann; Behlmann, Andrea; Bluske, Krista; Bostwick, Bret; Bright, Alison; Chen, Chun-An; Clause, Amanda R.; Dharmadhikari, Avinash, V; Ganapathi, Mythily; Gonzaga-Jauregui, Claudia; Grant, Andrew R.; Hughes, Madeline Y.; Kim, Se Rin; Krause, Amanda; Liao, Jun; Lumaka, Aime; Mah, Michelle; Maloney, Caitlin M.; Mohan, Shruthi; Osei-Owusu, Ikeoluwa A.; Reble, Emma; Rennie, Olivia; Savatt, Juliann M.; Shimelis, Hermela; Siegert, Rebecca K.; Sneddon, Tam P.; Thaxton, Courtney; Toner, Kelly A.; Tran, Kien Trung; Webb, Ryan; Wilcox, Emma H.; Yin, Jiani; Zhuo, Xinming; Znidarsic, Masa; Martin, Christa Lese; Betancur, Catalina; Vorstman, Jacob A. S.; Miller, David T.; Schaaf, Christian 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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R
Rong Mao
H 指数:49论文数:265被引数:1.3万
C
Christina Hung
H 指数:14论文数:59被引数:1,129
E
Emily Groopman
H 指数:19论文数:71被引数:2,347
T
Tatiana Yuzyuk
H 指数:13论文数:62被引数:588
D
Deeksha Bali
H 指数:47论文数:199被引数:7,874
L
L. Clarke
H 指数:49论文数:269被引数:8,805
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
J
Jennifer Goldstein
H 指数:32论文数:111被引数:3,972
H
Heather Baudet
H 指数:4论文数:32被引数:93
J
Justyne Ross
H 指数:9论文数:33被引数:529