Concepedia

Joshi Stephen

JS

Statistics

Publications

15

Citations

458

H-Index

12

Active since

2004

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Office of the Director

National Eye Institute

National Institute of Neurological Disorders and Stroke

Joshi Stephen is an author at National Human Genome Research Institute specializing in genetics, genetic disorders, and life sciences.

Publications per year

2004–2019

15

Publications

15

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Ortal Barel, May Christine V. Malicdan, Bruria Ben‐Zeev et al. · Brain · 2017 · 64 citations · Full text

, , +17

Mutations in human homologue of chicken <i>talpid3</i> gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

May Christine V. Malicdan, Thierry Vilboux, Joshi Stephen et al. · Journal of Medical Genetics · 2015 · 56 citations · Full text

, , +12

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations

Joshi Stephen, Thierry Vilboux, Yael Haberman et al. · European Journal of Human Genetics · 2016 · 51 citations · Full text

, , +16

Measurements of aerosol optical depths and black carbon over Bay of Bengal during post‐monsoon season

E. Sumanth, K. Mallikarjuna, Joshi Stephen et al. · Geophysical Research Letters · 2004 · 39 citations

, , +16

<i>CELSR2</i>, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

Thierry Vilboux, May Christine V. Malicdan, Joseph C. Roney et al. · American Journal of Medical Genetics Part A · 2017 · 39 citations · Full text

, , +16

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