Shubha R. Phadke

Statistics

Publications

136

Citations

3.8K

H-Index

Active since

1992

Affiliations

Sanjay Gandhi Post Graduate Institute of Medical Sciences(Current)

Centre for DNA Fingerprinting and Diagnostics

Manipal Academy of Higher Education

All India Institute of Medical Sciences

Kasturba Medical College, Manipal

Shubha R. Phadke is an author at Sanjay Gandhi Post Graduate Institute of Medical Sciences specializing in genetics, human genetics, and medical genetics.

ORCID

Publications per year

1992–2022

136

Publications

136

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy et al. · The American Journal of Human Genetics · 2007 · 159 citations

Life Sciences, Genetics, Molecular Genetics +7

De novo SOX11 mutations cause Coffin–Siris syndrome

Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi et al. · Nature Communications · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Carol-Anne Martin, Jennie Murray, Paula Carroll et al. · Genes & Development · 2016 · 150 citations · Full text

Life Sciences, Cell Biology, Genetics +17

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

V.H. Sankar, Shubha R. Phadke · Journal of Perinatology · 2006 · 100 citations

Medicine, Obstetrics, Pathology +16

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Johannes Egerer et al. · Human Genetics · 2012 · 93 citations · Full text

Medicine, Genetics, Molecular Genetics +5

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