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S

Shira Rockowitz

harvard university medical affiliates
H指数:23
被引数:2,892

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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Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care

扩展基因组再分析以解锁诊断并转变罕见病护理

Human Genetics and Genomics Advances
IF3.6
2026-02-180
OAAI
Shira Rockowitz; Wanqing Shao; Courtney French; Tina K. Truong; Jacob Hagen; Rylee McGonigle; Alexa Geltzeiler; Beth Sheidley; Lacey Smith; Alissa M. D’Gama; Mira Irons; Janet Chou; Joan Stoler; Amy Kritzer; Lance Rodan; Akiko Shimamura; Olaf Bodamer; Stephanie Sacharow; Janet S. Soul; Siddharth Srivastava
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2024-04-012
OAAI
Ansari, Morad; Faour, Kamli N. W.; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M.; Denhoff, Erica R.; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M.; Firth, Helen; Breman, Amy M.; Bijlsma, Emilia K.; Iwata-Otsubo, Aiko; de Ravel, Thomy J. L.; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stuhn, Lara G.; Haack, Tobias B.; Korenke, G. Christoph; Constantinou, Panayioti; Bujakowksa, Kinga M.; Low, Karen J.; Place, Emily; Humberson, Jennifer; Napier, Melanie P.; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A.; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tuettelmann, Frank; Conrad, Donald F.; O'Donnell-Luria, Anne; Talkowski, Michael E.; Fitzpatrick, David R.; Boone, Philip M.
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies

重新思考免疫风险: 先天性免疫缺陷患者严重SARS-Cov-2感染的回顾性队列研究

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
IF6.6
2023-11-014
OAAI
Nguyen, Alan A.; Habiballah, Saddiq B.; Labere, Brenna; Day-Lewis, Megan; Elkins, Megan; Al -Musa, Amer; Chu, Anne; Jones, Jennifer; Fried, Ari J.; Mcdonald, Douglas; van Konijnenburg, David P. Hoytema; Rockowitz, Shira; Sliz, Piotr; Oettgen, Hans C.; Schneider, Lynda C.; Macginnitie, Andrew; Bartnikas, Lisa M.; Platt, Craig D.; Ohsumi, Toshiro K.; Chou, Janet
Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease
JOURNAL OF CROHNS & COLITIS
IF8.7
2022-04-0222
OA
Collen, Lauren, V; Kim, David Y.; Field, Michael; Okoroafor, Ibeawuchi; Saccocia, Gwen; Whitcomb, Sydney Driscoll; Green, Julia; Dong, Michelle Dao; Barends, Jared; Carey, Bridget; Weatherly, Madison E.; Rockowitz, Shira; Sliz, Piotr; Liu, Enju; Eran, Alal; Grushkin-Lerner, Leslie; Bousvaros, Athos; Muise, Aleixo M.; Klein, Christoph; Mitsialis, Vanessa; Ouahed, Jodie; Snapper, Scott B.
Mendelian etiologies identified with whole exome sequencing in cerebral palsy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2022-01-2438
OA
Chopra, Maya; Gable, Dustin L.; Love-Nichols, Jamie; Tsao, Alexa; Rockowitz, Shira; Sliz, Piotr; Barkoudah, Elizabeth; Bastianelli, Lucia; Coulter, David; Davidson, Emily; DeGusmao, Claudio; Fogelman, David; Huth, Kathleen; Marshall, Paige; Nimec, Donna; Sanders, Jessica Solomon; Shore, Benjamin J.; Snyder, Brian; Stone, Scellig S. D.; Ubeda, Ana; Watkins, Colyn; Berde, Charles; Bolton, Jeffrey; Brownstein, Catherine; Costigan, Michael; Ebrahimi-Fakhari, Darius; Lai, Abbe; O'Donnell-Luria, Anne; Paciorkowski, Alex R.; Pinto, Anna; Pugh, John; Rodan, Lance; Roe, Eugene; Swanson, Lindsay; Zhang, Bo; Kruer, Michael C.; Sahin, Mustafa; Poduri, Annapurna; Srivastava, Siddharth
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
AMERICAN JOURNAL OF HEMATOLOGY
IF9.9
2021-11-032
OA
Renella, Raffaele; Gagne, Katelyn; Beauchamp, Ellen; Fogel, Jonathan; Perlov, Aleksej; Sola, Mireia; Schlaeger, Thorsten; Hofmann, Inga; Shimamura, Akiko; Ebert, Benjamin L.; Schmitz-Abe, Klaus; Markianos, Kyriacos; Murphy, Kristi; Sun, Liang; Rockowitz, Shira; Sliz, Piotr; Campagna, Dean R.; Springer, Timothy A.; Bahl, Christopher; Agarwal, Suneet; Fleming, Mark D.; Williams, David A.
Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C)

儿童多系统炎症综合征遗传易感性机制 (mis-c)

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
IF11.2
2021-09-0187
OAAI
Chou, Janet; Platt, Craig D.; Habiballah, Saddiq; Nguyen, Alan A.; Elkins, Megan; Weeks, Sabrina; Peters, Zachary; Day-Lewis, Megan; Novak, Tanya; Armant, Myriam; Williams, Lucinda; Rockowitz, Shira; Sliz, Piotr; Williams, David A.; Randolph, Adrienne G.; Geha, Raif S.
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2021-07-012
OAAI
Parikh, Jignesh R.; Genetti, Casie A.; Aykanat, Asli; Brownstein, Catherine A.; Schmitz-Abe, Klaus; Danowski, Morgan; Quitadomo, Andrew; Madden, Jill A.; Yacoubian, Calum; Gain, Richard; Williams, Tessa; Meskell, Mary; Brown, Andrew; Frith, Alison; Rockowitz, Shira; Sliz, Piotr; Agrawal, Pankaj B.; Defay, Thomas; McDonagh, Paul; Reynders, John; Lefebvre, Sebastien; Beggs, Alan H.

研究方向

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Piotr Sliz
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Deyou Zheng 封面图
Deyou Zheng
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Raif S. Geha
H 指数:119论文数:768被引数:4.6万
C
Catherine A. Brownstein
H 指数:34论文数:133被引数:5,055
J
Janet Chou
H 指数:47论文数:181被引数:7,699
C
Courtney E. French
H 指数:29论文数:61被引数:8,017
S
Siddharth Srivastava
H 指数:30论文数:169被引数:3,922
J
Jian Sun
H 指数:35论文数:195被引数:4,446
R
Ruth Ashery‐Padan
H 指数:49论文数:109被引数:7,774