Paul R. Mark

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp><i>PHF6</i></scp>

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Mutation update for the <i>SATB2</i> gene

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

NAD Deficiency, Congenital Malformations, and Niacin Supplementation

Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes