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

基本信息

Career Trajectory

Bio

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'.

Research Interests

Papers共 38 篇Author StatisticsCo-AuthorSimilar Experts

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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)

Cited0Views0WOSBibtex

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)

Cited2Views0WOSBibtex

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）

Cited8Views0Bibtex

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

Cited8Views0Bibtex

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）

Cited10Views0WOSBibtex

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）

Cited0Views0Bibtex

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）

Cited4Views0WOSBibtex

色素沈着欠損の中国人小児におけるHermansky-Pudlak症候群と眼皮膚白皮症および易傷【JST・京大機械翻訳】

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

openalex（2019）

Cited0Views0Bibtex

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）

Cited0Views0Bibtex

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