Siddharth Banka

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Bergithe E Oftedal, Alexander Hellesen, Martina M. Erichsen et al. · Immunity · 2015 · 274 citations

Immunogenetics, Autoimmune Disease, Autoantibody Production +9

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam, Siddharth Banka, Hans T. Björnsson et al. · Journal of Medical Genetics · 2018 · 229 citations · Full text

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations

Ranjay Jayadev, Mychel Morais, Jamie M. Ellingford et al. · Science Advances · 2022 · 198 citations · Full text

Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

Mark Hannibal, Kati J. Buckingham, Sarah Ng et al. · American Journal of Medical Genetics Part A · 2011 · 192 citations · Full text