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S

Stephen McGee

genedx
H指数:7
被引数:191

个人简介

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教育背景

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工作经历

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荣誉奖项

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Developmental genetic determinants of the human cerebrospinal fluid–ventricular system

人类脑脊液-脑室系统的发育遗传决定因素

Science Translational Medicine
IF14.6
2026-07-080
PRE
Garrett Allington; Evan Dennis; Qiang Li; Stephen McGee; Neel H. Mehta; Kedous Y. Mekbib; Izuho Hatada; Matthew C. Weston; Amy N. Shore; Erin R. Cullen; Tyrone DeSpenza; Amrita Singh; Danielle Miyagishima; Emre Kiziltug; Andrew T. Hale; Phan Q. Duy; Baojian Fan; Carol Nelson-Williams; Andrés Moreno-de-Luca; Ekkehard M. Kasper; Hannah Smith; William C. Davalan; Adam J. Kundishora; Bryan W. Luikart; Shozeb Haider; Seth L. Alper; Richard P. Lifton; Sheng Chih Jin; Kristopher T. Kahle
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore，一种由人工智能和真实世界临床数据驱动的基因排序器，在近10,000个外显子和基因组中对孟德尔疾病的分子诊断显示出高敏感性。

Human Genetics
IF3.6
2026-02-160
OAAI
Vincent D. Ustach; Maria J. Guillen Sacoto; Stephen McGee; Vladimir G. Gainullin; Kevin Arvai; Amber Begtrup; Flavia M. Facio; Matthew Greenberg; Hákon Guðbjartsson; Kirsty McWalter; Francisca Millán; Kristin Monaghan; Kyle Retterer; Gabriele Richard; Nadav Topaz; Rebecca Torene; Britt Johnson; Timothy Laurent
Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling
NEUROSURGERY
IF3.9
2025-04-010
PRE
Mekbib, Kedous Yared; Munoz, William; Allington, Garrett; Mcgee, Stephen; Kiziltug, Emre; Despenza, Tyrone; Fortes, Carla; Nelson-Williams, Carol; Mehta, Neel; Smith, Hannah; Zhao, Shujuan; Shofi, John; Ocken, Jack; Reeves, Benjamin; Greenberg, Ana; Kundishora, Adam; Moreno-De-Luca, Andres; Jin, Sheng Chih; Alper, Seth; Lifton, Richard P.; Butler, William; Kahle, Kristopher Thomas
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

使用基因组测序扩展新生儿筛查早期可行条件

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
IF55
2025-01-213
PRE
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Mederic; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Wynn, Julia; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
BRAIN
IF11.7
2023-12-214
PRE
Singh, Amrita K.; Allington, Garrett; Viviano, Stephen; McGee, Stephen; Kiziltug, Emre; Ma, Shaojie; Zhao, Shujuan; Mekbib, Kedous Y.; Shohfi, John P.; Duy, Phan Q.; DeSpenza, Tyrone; Furey, Charuta G.; Reeves, Benjamin C.; Smith, Hannah; Sousa, Andre M. M.; Cherskov, Adriana; Allocco, August; Nelson-Williams, Carol; Haider, Shozeb; Rizvi, Syed R. A.; Alper, Seth L.; Sestan, Nenad; Shimelis, Hermela; Walsh, Lauren K.; Lifton, Richard P.; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kruszka, Paul; Deniz, Engin; Kahle, Kristopher T.
Human genetics and molecular genomics of Chiari malformation type 1
Trends in Molecular Medicine
IF13.8
2023-12-013
PRE
Mekbib, Kedous Y.; Munoz, William; Allington, Garrett; Mcgee, Stephen; Mehta, Neel H.; Shofi, John P.; Fortes, Carla; Le, Hao Thi; Nelson-Williams, Carol; Nanda, Pranav; Dennis, Evan; Kundishora, Adam J.; Khanna, Arjun; Smith, Hannah; Ocken, Jack; Greenberg, Ana B. W.; Wu, Rui; Moreno-De-Luca, Andres; DeSpenza Jr, Tyrone; Zhao, Shujuan; Marlier, Arnaud; Jin, Sheng Chih; Alper, Seth L.; Butler, William E.; Kahle, Kristopher T.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-05-0111
OAAI
Timberlake, Andrew T.; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M.; Stiegler, Amy L.; Boggon, Titus J.; Sanyoura, May; Morrow, Michelle; Wenger, Tara L.; Fernandes, Erica M.; Caluseriu, Oana; Persing, John A.; Jin, Sheng Chih; Lifton, Richard P.; Kahle, Kristopher T.; Kruszka, Paul
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
NATURE MEDICINE
IF50
2023-03-066
PRE
Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; Lopez-Giraldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序进行扩展新生儿筛查，以早期识别可干预状况

Obstetrical & Gynecological Survey
IF3.6
0
PRE
Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Hernan, Rebecca; Amendola, Laura M.; Boyd, Brenna M.; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L.; Coffey, Alison J.; Devaney, Joseph M.; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L.; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S.; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D. Aaron; Kavus, Haluk; Leibel, Rudolph L.; Lobritto, Steven J.; McGee, Stephen; Milner, Joshua D.; McWalter, Kirsty; Monaghan, Kristin G.; Orange, Jordan S.; Soler, Nicole Pimentel; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J.; Silver, Eric S.; Strom, Samuel; Torene, Rebecca I.; Williams, Olatundun; Ustach, Vincent D.; Taft, Ryan J.; Kruszka, Paul; Caggana, Michele; Chung, Wendy K.

研究方向

暂未获取到该数据
K
Kristopher T. Kahle
H 指数:69论文数:366被引数:1.7万
G
Garrett Allington
H 指数:15论文数:43被引数:774
S
Sheng Chih Jin
H 指数:38论文数:173被引数:8,210
S
Seth L. Alper
H 指数:83论文数:468被引数:2.3万
A
Andrés Moreno-De-Luca
H 指数:23论文数:68被引数:3,258
R
Rebecca I. Torene
H 指数:16论文数:42被引数:1,711
K
Kedous Y. Mekbib
H 指数:9论文数:34被引数:328
R
Richard P. Lifton
H 指数:150论文数:571被引数:9.3万
P
Paul Kruszka
H 指数:34论文数:170被引数:3,425
K
Kyle Retterer
H 指数:43论文数:103被引数:7,999