Ratna Dua Puri

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham Alkuraya et al. · The American Journal of Human Genetics · 2011 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

Carola Dröge, Michele Bonus, Ulrich Baumann et al. · Journal of Hepatology · 2017 · 137 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert et al. · The American Journal of Human Genetics · 2017 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

Paranchai Boonsawat, Pascal Joset, Katharina Steindl et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri et al. · BMC Medical Genetics · 2019 · 67 citations · Full text

Life Sciences, Genetics, Pathology +17