Joshi Stephen - Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences

基本信息

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个人简介

Joshi Stephen currently works at the Branch of Medical Genetics, National Institutes of Health. Joshi does research in Genetics, Molecular Biology and Bioinformatics. Their current project is 'Ciliopathy'.

研究兴趣

论文共 37 篇作者统计合作学者相似作者

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A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB

Sandy Mattijssen,Kyra Kerkhofs,Joshi Stephen,Acong Yang,Chen G. Han,Yokoyama Tadafumi,James R. Iben,Saurabh Mishra,Rima M. Sakhawala,Amitabh Ranjan, Mamatha Gowda,William A. Gahl,Shuo Gu,May C. Malicdan,Richard J. Maraia

bioRxiv the preprint server for biology (2024)

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Cdna Sequencing Increases the Molecular Diagnostic Yield in Chediak-Higashi Syndrome

Chulaluk Kuptanon,Marie Morimoto,Elena-Raluca Nicoli,Joshi Stephen, David S. Yarnell,Heidi Dorward, William Owen,Suhag Parikh,Namik Yasar Ozbek,Baris Malbora,Carla Ciccone,Meral Gunay-Aygun,William A. Gahl,Wendy J. Introne,May Christine V. Malicdan

Frontiers in Genetics (2023)

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Review for "use of Medical Exome Sequencing for Identification of Underlying Genetic Defects in NICU : Experience in a Cohort of 2,303 Neonates in China"

Joshi Stephen

crossref（2021）

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Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Puneeth H. Somashekar,Parneet Kaur,Joshi Stephen,Vishal Singh Guleria,Rajagopal Kadavigere,Katta Mohan Girisha,Stephanie Bielas,Priyanka Upadhyai,Anju Shukla

Clinical Geneticsno. 4 (2021): 594-600

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Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia

Puneeth H. Somashekar,Parneet Kaur,Joshi Stephen,Vishal Singh Guleria,Rajagopal Kadavigere,Katta Mohan Girisha,Stephanie Bielas,Priyanka Upadhyai,Anju Shukla

CLINICAL GENETICS（2021）

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Author response for "Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia"

Puneeth H. Somashekar,Parneet Kaur,Joshi Stephen,Vishal Singh Guleria,Rajagopal Kadavigere,Katta Mohan Girisha,Stephanie Bielas,Priyanka Upadhyai,Anju Shukla

semanticscholar（2020）

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Diagnosis of Chediak Higashi Disease in a 67-Year Old Woman

David S. Yarnell, Joseph C. Roney, Claudia Teixeira, Maria I. Freitas, Ana Cipriano, Pedro Leuschner,Konrad Krzewski,Joshi Stephen, Heidi Dorward,William A. Gahl, Bernadette R. Gochuico,Camilo Toro, May C. Malicdan, Wendy J. Introne

American journal of medical genetics Part A（2020）

引用3浏览0WOS引用

Intellectual disability: Identification of novel genes and expansion of genetic and phenotype spectrum by multicentercollaboration

J. Stephen,S. Nampoothiri,J. D. Burke,K. Steindl,N. Balanda,P. Joset,A. Shukla,T. Ben-Omran,K. M. Girisha,R. Ali,A. Rauch,J. A. Martinez-Agosto,F. S. Alkuraya,W. A. Gahl,M. V. Malicdan

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

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Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Bradley Power,Carlos R. Ferreira,Dong Chen,Wadih M. Zein,Kevin J. O’Brien,Wendy J. Introne,Joshi Stephen,William A. Gahl,Marjan Huizing,May Christine V. Malicdan,David R. Adams,Bernadette R. Gochuico

Orphanet J Rare Dis（2019）

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