Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by James R. Lupski
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
American Journal of Human Genetics
Genetics
Biallelic VARS Variants Cause Developmental Encephalopathy With Microcephaly That Is Recapitulated in Vars Knockout Zebrafish
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Human Genome Sequencing in Health and Disease
Annual Review of Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
JAMA Neurology
Neurology
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects Against Diet-Induced Obesity in Mice and Men
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Erratum To: Haploinsufficiency of the E3 Ubiquitin-Protein Ligase Gene TRIP12 Causes Intellectual Disability With or Without Autism Spectrum Disorders, Speech Delay, and Dysmorphic Features
Human Genetics
Genetics
Human Subtelomeric Copy Number Gains Suggest a DNA Replication Mechanism for Formation: Beyond Breakage–fusion–bridge for Telomere Stabilization
Human Genetics
Genetics
Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult With Biallelic Variations in ZAP70 and RNF168
Frontiers in Immunology
Allergy
Immunology
1
2
3
›
