K. Girisha

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

K. Girisha, A. Shukla, H. Shah, 2017, Clinical genetics.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

A de novo translocation of chromosomes 1 and 2 in an 18 year old boy with syndromic mental retardation.

P. M. Gopinath, J. Neetha, M. Sekhar, 2012, Genetic counseling.

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

L. Rao, H. Ganesh, P. Srilatha, 2010, American journal of medical genetics. Part A.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

S. Mundlos, M. Spielmann, E. Klopocki, 2014, Clinical genetics.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

S. Efthymiou, R. Maroofian, H. Houlden, 2021, medRxiv.

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

S. Phadke, K. Girisha, A. Shukla, 2018, Clinical genetics.

Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder.

L. Rai, K. Girisha, P. Adiga, 2012, Genetic counseling.