Jacek Majewski

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Dagmar Wieczorek, William B. Dobyns, Laurence Faivre, 2014, Nature Genetics.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy

A. Vanderver, M. Gambello, M. Tétreault, 2018, Clinical genetics.

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

J. Majewski, F. Hildebrandt, E. Otto, 2013, Clinical genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

E. Sell, K. Boycott, D. Bulman, 2014, Clinical genetics.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.