K. Chao - Broad Inst MIT, Cambridge, MA USA

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论文共 9 篇作者统计合作学者相似作者

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Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease

A. Foley,S. Donkervoort,D. Bharucha-Goebel,D. Saade,L. Flynn,C. Grunseich,Y. Hu,C. Bruels,H. Littel,E. Estrella,K. Krishnamoorthy,K. Chao,

NEUROMUSCULAR DISORDERS (2023): S114-S114

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Expanding the clinical and genetic spectrum of biallelic pathogenic MYO18B variants in congenital myopathy

S. Donkervoort,I. Zaharieva,M. Essid,C. Longman,A. Foley,I. Horrocks,H. Benrhouma,M. Farrugia,S. Neuhaus,T. Younes,I. Youssef-Turki,Y. Jamshidi,

NEUROMUSCULAR DISORDERS (2023): S127-S127

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Utilization Of Rna Sequencing To Diagnose And To Provide Mechanistic Insight In Neb-Related Myopathy

S. Silverstein, S. Syeda,A. Foley, K. Meilleur,M. Leach, P. Uapinyoying,K. Chao,S. Donkervoort,C. Bonnemann

NEUROMUSCULAR DISORDERS（2021）

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NEW GENES AND DISEASES

G. Yoon, M. Estañ, E. Fernandez-Nuñez, M. Zak,M. Esteban,S. Donkervoort, C. Hawkins, J. Caparros-Martin, D. Saade, Y. Hu,V. Bolduc,K. Chao,

NEUROMUSCULAR DISORDERS（2019）

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Diagnosis Of Fetal Akinesia And Arthrogryposis By Panel Sequencing And Functional Genomics

G. Ravenscroft,J. Clayton,F. Faiz, D. Milnes,R. Cincotta, P. Moon,P. Mcgrath, A. Colley,K. Chao,N. Laing,M. Davis

NEUROMUSCULAR DISORDERS（2019）

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O.18Recessive mutations in the myosin chaperone UNC-45B impair muscle myofibrillar integrity, manifesting as progressive myopathy with eccentric cores

S. Donkervoort, Y. Hu, X. Lornage, C. Kutzner,M. Mroczek,S. Neuhaus, N. Kuntz,A. Töpf,S. Monges,F. Lubieniecki,K. Chao,J. Böhm,

NEUROMUSCULAR DISORDERS（2019）

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Bi-allelic loss of function mutations in SYT2 cause a congenital onset severe presynaptic myasthenic syndrome

S. Donkervoort, P. Mohassel,L. Laugwitz,E. Kamsteeg,K. Chao, C. Verschuuren-Bemelmans, V. Horber, J. Fock,N. Voermans, Y. Hu,M. Snyder, S. Iannaccone,

Neuromuscular Disorders（2019）

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The NIH-NNDCS/CMG integrated clinico-genomic approach to undiagnosed pediatric neuromuscular patients in the NGS era

S. Donkervoort,A. R. Foley,D. Saade,S. Neuhaus, P. Mohassel,D. Bharucha-Goebel,K. Chao,B. Cummings,M. Lek,D. MacArthur,C. Bonnemann

NEUROMUSCULAR DISORDERS（2018）

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Recessive Mutations In Bet1 And Gosr2 Establish Q-Snare Golgi-Vesicle-Transport Genes As A Cause For Congenital Muscular Dystrophy With Epilepsy

S. Donkervoort, Y. Hu, P. Shieh, J. Koliwer, L. Tsai,B. Cummings,M. Snyder,K. Chao, R. Kaur,D. Bharucha-Goebel, S. Iannaccone, D. Macarthur,

NEUROMUSCULAR DISORDERS (2018)

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