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Publications by Richard A. Gibbs
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
Cell
Biochemistry
Genetics
Molecular Biology
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
A Pan-Cancer Analysis Reveals High-Frequency Genetic Alterations in Mediators of Signaling by the TGF-β Superfamily
Cell Systems
Forensic Medicine
Pathology
Cell Biology
Histology
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
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
Leveraging Human Microbiome Features to Diagnose and Stratify Children With Irritable Bowel Syndrome
Journal of Molecular Diagnostics
Forensic Medicine
Pathology
Molecular Medicine
Identification ofTP53as an Acute Lymphocytic Leukemia Susceptibility Gene Through Exome Sequencing
Pediatric Blood and Cancer
Oncology
Child Health
Hematology
Perinatology
Medicine
Pediatrics
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
Exploration of GGTase-I Substrate Requirements. Part 1: Synthesis and Biochemical Evaluation of Novel Aryl-Modified Geranylgeranyl Diphosphate Analogs
Bioorganic and Medicinal Chemistry Letters
Organic Chemistry
Molecular Medicine
Molecular Biology
Biochemistry
Clinical Biochemistry
Pharmaceutical Science
Drug Discovery
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