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J

Jamie McDonald

university of utah
H指数:27
被引数:5,414

个人简介

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荣誉奖项

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Case report: Novel homozygous ACVRL1 missense variant in a family with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension: findings suggest a hypomorphic allele

病例报告：在一个遗传性出血性毛细血管扩张症和肺动脉高压家族中发现一种新型的纯合ACVRL1错义变异：研究结果提示该等位基因具有降低功能

FRONTIERS IN GENETICS
IF2.8
2025-03-140
OA
Mathavan, Akash; Mathavan, Akshay; Krekora, Urszula; Rao, Adityanarayan; Zumberg, Marc S.; Justice, Jeb; Bayrak-Toydemir, Pinar; Mcdonald, Jamie; Ataya, Ali
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1
HUMAN MUTATION
IF3.7
2024-05-181
OAAI
DeMille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A.; Jovine, Luca; Shovlin, Claire L.; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S.; Jessen, Jaime; Massink, Maarten P. G.; Ichikawa, Shoji; Bayrak-Toydemir, Pinar
Reply to Eker et al. Comment on Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT. J. Clin. Med. 2023, 12, 2704

回复Eker等人。评论Kilian等人。比较HHT儿童和成人脑血管畸形的特征和治疗。J.Clin.医学。2023，12，2704

JOURNAL OF CLINICAL MEDICINE
IF2.9
2023-12-010
OAAI
Kilian, Alexandra; Latino, Giuseppe A.; White, Andrew J.; Ratjen, Felix; McDonald, Jamie; Whitehead, Kevin J.; Gossage, James R.; Krings, Timo; Lawton, Michael T.; Kim, Helen; Faughnan, Marie E.
The Shunt of It
CHEST
IF8.6
2023-05-011
OA
Scarpato, Brittany M.; McDonald, Jamie; Bayrak-Toydemir, Pinar; Elliott, C. Gregory; Cahill, Barbara C.; Emerson, Lyska L.; Keenan, Lynn M.
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
ANNALS OF INTERNAL MEDICINE
IF15.2
2020-12-15261
PREAI
Faughnan, Marie E.; Mager, Johannes J.; Hetts, Steven W.; Palda, Valerie A.; Lang-Robertson, Kelly; Buscarini, Elisabetta; Deslandres, Erik; Kasthuri, Raj S.; Lausman, Andrea; Poetker, David; Ratjen, Felix; Chesnutt, Mark S.; Clancy, Marianne; Whitehead, Kevin J.; Al-Samkari, Hanny; Chakinala, Murali; Conrad, Miles; Cortes, Daniel; Crocione, Claudia; Darling, Jama; de Gussem, Els; Derksen, Carol; Dupuis-Girod, Sophie; Foy, Patrick; Geisthoff, Urban; Gossage, James R.; Hammill, Adrienne; Heimdal, Ketil; Henderson, Katharine; Iyer, Vivek N.; Kjeldsen, Anette D.; Komiyama, Masaki; Korenblatt, Kevin; McDonald, Jamie; McMahon, Jack; McWilliams, Justin; Meek, Mary E.; Mei-Zahav, Meir; Olitsky, Scott; Palmer, Sara; Pantalone, Rose; Piccirillo, Jay F.; Plahn, Beth; Porteous, Mary E. M.; Post, Marco C.; Radovanovic, Ivan; Rochon, Paul J.; Rodriguez-Lopez, Josanna; Sabba, Carlo; Serra, Marcelo; Shovlin, Claire; Sprecher, Dennis; White, Andrew J.; Winship, Ingrid; Zarrabeitia, Roberto
Genotype-Phenotype Correlations in Children with HHT
JOURNAL OF CLINICAL MEDICINE
IF2.9
2020-08-2218
OAAI
Kilian, Alexandra; Latino, Giuseppe A.; White, Andrew J.; Clark, Dewi; Chakinala, Murali M.; Ratjen, Felix; McDonald, Jamie; Whitehead, Kevin J.; Gossage, James R.; Lin, Doris; Henderson, Katharine; Pollak, Jeffrey; McWilliams, Justin P.; Kim, Helen; Lawton, Michael T.; Faughnan, Marie E.
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
GENETICS IN MEDICINE
IF6.2
2019-09-0143
OAAI
Wooderchak-Donahue, Whitney L.; Akay, Gulsen; Whitehead, Kevin; Briggs, Eric; Stevenson, David A.; O'Fallon, Brendan; Velinder, Matthew; Farrell, Andrew; Shen, Wei; Bedoukian, Emma; Skrabann, Cara M.; Antaya, Richard J.; Henderson, Kate; Pollak, Jeffrey; Treat, James; Day, Ronald; Jacher, Joseph E.; Hannibal, Mark; Bontempo, Kelly; Marth, Gabor; Bayrak-Toydemir, Pinar; McDonald, Jamie

研究方向

暂未获取到该数据
P
Pınar Bayrak‐Toydemir
H 指数:38论文数:155被引数:6,428
K
Kevin J. Whitehead
H 指数:42论文数:151被引数:7,353
W
Whitney Wooderchak‐Donahue
H 指数:20论文数:33被引数:1,952
M
Marie E. Faughnan
H 指数:42论文数:177被引数:8,261
P
Pinar Bayrak‐Toydemir
H 指数:16论文数:33被引数:1,365
F
Félix Ratjen
H 指数:84论文数:756被引数:2.9万
J
James R. Gossage
H 指数:24论文数:73被引数:4,003
A
Andrew J. White
H 指数:30论文数:118被引数:4,051
C
Carmelo Bernabéu
H 指数:65论文数:283被引数:1.4万
D
David A. Stevenson
H 指数:43论文数:258被引数:8,004