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R

Rong Mao

Utah System of Higher Education
H指数:49
被引数:1.3万

个人简介

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工作经历

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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为先前未解决的罕见病病例提供了功能见解和诊断分辨率。

BMC MEDICAL GENOMICS
IF2
2025-11-140
OA
Lewis, Robert G.; O'shea, John M.; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L.; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J.; Boyden, Steven E.; Ward, Alistair; Baldwin, Erin E.; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C.; Bleyl, Steven B.; Butterfield, Russell J.; Taliercio, Vanina; Botto, Lorenzo D.; Mao, Rong; Bayrak-Toydemir, Pinar
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

Utah NeoSeq项目：一个促进新生儿重症监护室基因组诊断的协作性多学科项目

NPJ GENOMIC MEDICINE
IF4.8
2025-03-230
OA
Jenkins, Sabrina Malone; Palmquist, Rachel N.; Moore, Barry; Boyden, Steven E.; Nicholas, Thomas J.; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J. Andrew R.; Holt, Carson H.; Rynearson, Shawn G.; Solorzano, Chelsea M.; Ward, Alistair; Best, D. Hunter; Al-Sweel, Najla; Bentley, Dawn L.; Brunelli, Luca; Chow, Clement Y.; Close, Devin W.; Cormier, Michael J.; Deshotel, Malia J.; Durtschi, Jacob; Eide, Erik J.; Floyd, Luaiva; Fredrickson, Eric K.; Fulmer, Makenzie L.; Hernandez, Edgar J.; Kapron, Ashley L.; Karren, Mary Anne; Lewis, Robert G.; Miller, Christine E.; Murtaugh, L. Charles; Nicholson, Kelsey E.; Noble, Katherine; O'Fallon, Brendan D.; O'Shea, John M.; Pattison, David C.; Pedersen, Brent S.; Petersen, Brandy J.; Peterson, Bennet D.; Pizzo, Lucilla; Reynolds, Hayley M.; Rindler, Paul; Torr, Carrie B.; Wen, Ting; Yost, H. Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T.; Quinlan, Aaron R.; Carey, John C.; Shayota, Brian J.; Tristani-Firouzi, Martin; Bonkowsky, Joshua L.
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.
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
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-10-243
OAAI
Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
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
Autoantibodies are highly prevalent in non-SARS-CoV-2 respiratory infections and critical illness
JCI INSIGHT
IF6.1
2023-02-0814
OA
Feng, Allan; Yang, Emily Y.; Moore, Andrew Reese; Dhingra, Shaurya; Chang, Sarah Esther; Yin, Xihui; Pi, Ruoxi; Mack, Elisabeth K. M.; Voelkel, Sara; Gessner, Reinhard; Guendisch, Margrit; Neubauer, Andreas; Renz, Harald; Tsiodras, Sotirios; Fragkou, Paraskevi C.; Asuni, Adijat A.; Levitt, Joseph E.; Wilson, Jennifer G.; Leong, Michelle; Lumb, Jennifer H.; Mao, Rong; Pinedo, Kassandra; Roque, Jonasel; Richards, Christopher M.; Stabile, Mikayla; Swaminathan, Gayathri; Salagianni, Maria L.; Triantafyllia, Vasiliki; Bertrams, Wilhelm; Blish, Catherine A.; Carette, Jan E.; Frankovich, Jennifer; Meffre, Eric; Nadeau, Kari Christine; Singh, Upinder; Wang, Taia T.; Prak, Eline T. Luning; Herold, Susanne; Andreakos, Evangelos; Schmeck, Bernd; Skevaki, Chrysanthi; Rogers, Angela J.; Utz, Paul J.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
HUMAN MUTATION
IF3.7
2022-08-105
OAAI
Janssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H.

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
R
Rebecca L. Margraf
H 指数:21论文数:51被引数:1,604
M
Meredith Weaver
H 指数:12论文数:60被引数:914
T
Tatiana Yuzyuk
H 指数:13论文数:62被引数:588
E
Elaine Lyon
H 指数:40论文数:224被引数:3.8万
H
Heather Baudet
H 指数:4论文数:32被引数:93
J
John C. Carey
H 指数:81论文数:698被引数:2.5万
W
William H. Robinson
H 指数:104论文数:1,064被引数:4.0万
S
Shruthi Mohan
H 指数:12论文数:71被引数:694
C
Christina Hung
H 指数:14论文数:59被引数:1,129