Discover open access scientific publications

Search, annotate, share and cite publications

Publications in Genetics

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

American Journal of Human Genetics

English

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions With Other Hedgehog Receptors

American Journal of Human Genetics

English

Publisher Correction: Patch Clamp Recording From Enteric Neurons in Situ

Nature Protocols

Molecular Biology

English

Phenotype-Specific Enrichment of Mendelian Disorder Genes Near GWAS Regions Across 62 Complex Traits

American Journal of Human Genetics

English

Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior

American Journal of Human Genetics

English

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

American Journal of Human Genetics

English

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

American Journal of Human Genetics

English

Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping

American Journal of Human Genetics

English

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy With Deafness, Is Caused by Mutations in C20orf54

American Journal of Human Genetics

English

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

English