Malavika Hebbar

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Physiology, Orthopaedic Surgery, Perinatal Respiratory Distress +1

Recent advances in epilepsy genomics and genetic testing

Malavika Hebbar, Heather C. Mefford · F1000Research · 2020 · 82 citations · Full text

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Anju Shukla, Malavika Hebbar, Anshika Srivastava et al. · Journal of Human Genetics · 2017 · 59 citations · Full text

Homozygous P., Mitochondrial Function, Multiple Mitochondrial Dysfunctions +7

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

Fanny Kortüm, Rami Abou Jamra, Malik Alawi et al. · European Journal of Human Genetics · 2018 · 46 citations · Full text

Genetic Disorder, Genetics, Neurology +3

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Long Guo, Katta M. Girisha, Aritoshi Iida et al. · Journal of Human Genetics · 2016 · 40 citations

Genetic Disorder, Genetics, Pathology +3