J. Burton

发表

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

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

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

W. Chung, E. Roeder, C. Saunders, 2020, American journal of medical genetics. Part A.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

R. Pfundt, T. Kleefstra, C. V. van Ravenswaaij-Arts, 2018, Clinical genetics.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

J. Rosenfeld, A. Kania, S. Lalani, 2022, Brain : a journal of neurology.

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

A. De Grassi, G. Punzi, S. Edvardson, 2019, American journal of human genetics.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2017, Journal of Human Genetics.

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

I. Krantz, Soma Das, S. Tremblay, 2018, Journal of Human Genetics.

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

D. Viskochil, R. Schnur, H. Sticht, 2023, Pediatric neurology.