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Publications by William J. Craigen

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics

Genetics

2019

English

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

American Journal of Human Genetics

Genetics

2018

English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics

Genetics

2018

English

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

American Journal of Human Genetics

Genetics

2019

English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

Genetics

2019

English

In This Issue

English

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Journal of Molecular Diagnostics

English

Recurrent ACADVL Molecular Findings in Individuals With a Positive Newborn Screen for Very Long Chain Acyl-coA Dehydrogenase (VLCAD) Deficiency in the United States

Molecular Genetics and Metabolism

English

Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant

Molecular Genetics and Metabolism

English

Glucose Metabolism Derangements in Adults With the MELAS M.3243A>G Mutation

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by William J. Craigen

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

IRF2BPL Is Associated With Neurological Phenotypes

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

In This Issue

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Recurrent ACADVL Molecular Findings in Individuals With a Positive Newborn Screen for Very Long Chain Acyl-coA Dehydrogenase (VLCAD) Deficiency in the United States

Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant

Glucose Metabolism Derangements in Adults With the MELAS M.3243A>G Mutation