(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163

(2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109.

(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.

(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503

(2021) Bi-allelic loss-of-function variants in <i>BCAS3</i> cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082. ISSN 0002-9297

(2021) Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082.

(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.

(2021) Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European Journal of Human Genetics. pp. 411-421.

(2019) Homozygous Missense Variants in <i>NTNG2</i>, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. pp. 1048-1056. ISSN 0002-9297