Weiyi Mu - Publications, H-index & Citations

Weiyi Mu

Johns Hopkins Medicine

15H指数

69论文数

1.2K被引数

收录论文 17

发表时间

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B 脊髓小脑共济失调27B型患者复视的原因、斜视模式和眼动特征

Journal of Neuro-Ophthalmology

IF2

2026-03-01

PREAI

Gold, Daniel R.; Bery, Anand K.; Moukheiber, Emile; Mu, Weiyi; Abreu, Nicolas J.; Fein, Alexander S.; Steigerwald, Connolly G.; Rucker, Janet C.

Clinicopathologic Correlates: Progressive Downbeat Nystagmus in Spinocerebellar Ataxia Type 27B 临床病理相关性：脊髓小脑共济失调27B型中进展性下跳性眼球震颤

Journal of Neuro-Ophthalmology

IF2

2026-03-01

PREAI

Hale, David E.; Mu, Weiyi; Gold, Daniel R.

Video head impulse test differentiates RFC1-CANVAS, FGF14-SCA27B, and idiopathic late-onset cerebellar ataxias 视频头冲撞试验可区分RFC1-CANVAS、FGF14-SCA27B和特发性迟发性小脑共济失调。

Journal of Neurology

IF4.6

2025-10-07

PREAI

Leonardo E. Ariello; Daniel R. Gold; Jennifer L. Millar; Michael C. Schubert; Weiyi Mu; Liana Rosenthal; David P. W. Rastall

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework 眼动和前庭特征在脊髓小脑共济失调27B型中的研究：迈向实用的床边诊断框架

cerebellum

IF0

2025-09-04

OAAI

Leonardo Eleuterio Ariello; Daniel R. Gold; Weiyi Mu; Michael C. Schubert; Claire Allen; Ashley Paul; David P.W. Rastall

Practice Recommendations for Genetic Testing of Ataxias 遗传性共济失调基因检测实践建议

Annals of Clinical and Translational Neurology

IF3.9

2025-08-29

OAAI

Sharan R. Srinivasan; Amy D. Mook; Michelle Rochman; Jin Yun Helen Chen; Weiyi Mu; George R. Wilmot; Liana S. Rosenthal; Wendy R. Uhlmann

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder 致病性XPO1变异导致显性神经发育障碍

Genetics in Medicine

IF6.2

2025-08-13

OAAI

Amber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld

Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Straussler-Scheinker Syndrome

NEUROLOGY

IF8.5

2022-11-22

OAAI

Paul, Ashley M.; Mu, Weiyi; Butala, Ankur; Green, Kemar E.

Genetic testing for the epilepsies: A systematic review

EPILEPSIA

IF6.6

2021-12-10

PREAI

Sheidley, Beth R.; Malinowski, Jennifer; Bergner, Amanda L.; Bier, Louise; Gloss, David S.; Mu, Weiyi; Mulhern, Maureen M.; Partack, Emily J.; Poduri, Annapurna

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

SCIENCE ADVANCES

IF12.5

2021-01-22

OAAI

Beck, David B.; Basar, Mohammed A.; Asmar, Anthony J.; Thompson, Joyce J.; Oda, Hirotsugu; Uehara, Daniela T.; Saida, Ken; Pajusalu, Sander; Talvik, Inga; D'Souza, Precilla; Bodurtha, Joann; Mu, Weiyi; Baranano, Kristin W.; Miyake, Noriko; Wang, Raymond; Kempers, Marlies; Tamada, Tomoko; Nishimura, Yutaka; Okada, Satoshi; Kosho, Tomoki; Dale, Ryan; Mitra, Apratim; Macnamara, Ellen; Matsumoto, Naomichi; Inazawa, Johji; Walkiewicz, Magdalena; Ounap, Katrin; Tifft, Cynthia J.; Aksentijevich, Ivona; Kastner, Daniel L.; Rocha, Pedro P.; Werner, Achim

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-08-01

OAAI

Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane

A structured genetics rotation for pediatric residents: an important educational opportunity 儿科居民的结构化遗传学轮换: 重要的教育机会

GENETICS IN MEDICINE

IF6.2

2020-04-01

OAAI

Forsyth, RaeLynn; Mu, Weiyi; Gibson, Laura; Serwint, Janet R.; Shilkofski, Nicole; Bodurtha, Joann

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-04-01

OAAI

Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Mobilio, Sabrina; Niceta, Marcello; Zampino, Giuseppe; Philippe, Christophe; Moutton, Sebastien; Zaki, Maha S.; James, Kiely N.; Musaev, Damir; Mu, Weiyi; Baranano, Kristin; Nance, Jessica R.; Rosenfeld, Jill A.; Braverman, Nancy; Ciolfi, Andrea; Millan, Francisca; Person, Richard E.; Bruel, Ange-Line; Thauvin-Robinet, Christel; Ververi, Athina; DeVile, Catherine; Male, Alison; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Baratang, Nissan, V; Rousseau, Justine; St-Denis, Anik; Elrick, Matthew J.; Anselm, Irina; Rodan, Lance H.; Tartaglia, Marco; Gleeson, Joseph; Kinoshita, Taroh; Campeau, Philippe M.

Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutieres syndrome

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2020-01-10

OAAI

Lambe, Jeffrey; Murphy, Olwen C.; Mu, Weiyi; Schatz, Krista Sondergaard; Baranano, Kristin W.; Venkatesan, Arun

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-07-01

171

OAAI

Rafehi, Haloom; Szmulewicz, David J.; Bennett, Mark F.; Sobreira, Nara L. M.; Pope, Kate; Smith, Katherine R.; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A.; Garcia Barcina, Maria; Breen, David P.; Chancellor, Andrew M.; Cremer, Phillip D.; Delatycki, Martin B.; Fogel, Brent L.; Hackett, Anna; Halmagyi, G. Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L.; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R. D.; Wilson, Michael A.; Zee, David S.; Valle, David; Amor, David J.; Bahlo, Melanie; Lockhart, Paul J.

Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia

GENETICS IN MEDICINE

IF6.2

2018-06-01

OAAI

Mu, Weiyi; Cordner, Zachary A.; Wang, Kevin Yuqi; Reed, Kate; Robinson, Gina; Mitchell, Sally; Lin, Doris

Transcription factor TFCP2L1 patterns cells in the mouse kidney collecting ducts

ELIFE

IF0

2017-06-03

OAAI

Werth, Max; Schmidt-Ott, Kai M.; Leete, Thomas; Qiu, Andong; Hinze, Christian; Viltard, Melanie; Paragas, Neal; Shawber, Carrie J.; Yu, Wenqiang; Lee, Peter; Chen, Xia; Sarkar, Abby; Mu, Weiyi; Rittenberg, Alexander; Lin, Chyuan-Sheng; Kitajewski, Jan; Al-Awqati, Qais; Barasch, Jonathan

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

HUMAN GENETICS

IF3.6

2016-09-28

OAAI

Ma, Lijiang; Bayram, Yavuz; McLaughlin, Heather M.; Cho, Megan T.; Krokosky, Alyson; Turner, Clesson E.; Lindstrom, Kristin; Bupp, Caleb P.; Mayberry, Katey; Mu, Weiyi; Bodurtha, Joann; Weinstein, Veronique; Zadeh, Neda; Alcaraz, Wendy; Powis, Zoe; Shao, Yunru; Scott, Daryl A.; Lewis, Andrea M.; White, Janson J.; Jhangiani, Shalani N.; Gulec, Elif Yilmaz; Lalani, Seema R.; Lupski, James R.; Retterer, Kyle; Schnur, Rhonda E.; Wentzensen, Ingrid M.; Bale, Sherri; Chung, Wendy K.

研究方向