James R. Lupski
- Non-coding genetic variants in human disease: Figure 1.
2015/07/07 by Feng Zhang, James R. Lupski · 3 citations
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
- Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
2022/02/26 by Johannes Münch, Marie Engesser, Ria Schönauer +41 · 1 citation
Neuroscience · Biochemistry, Genetics and Molecular Biology · #Axon Guidance and Neuronal Signaling #Congenital heart defects research #Hippo pathway signaling and YAP/TAZ
- Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
2025/02/04 by Manar Abdalgani, Evelyn R. Hernandez, Luis Alberto Pedroza +15 · 1 voice · 1 citation
Immunology and Microbiology · Health Professions · #Immune Cell Function and Interaction #Immunodeficiency and Autoimmune Disorders #Pediatric health and respiratory diseases
- Monoallelic expression can govern penetrance of inborn errors of immunity
2025/01/01 by O’Jay Stewart, Conor Gruber, Haley E. Randolph +33 · 1 voice · 1 citation
Immunology and Microbiology · #Immune Cell Function and Interaction #Immunodeficiency and Autoimmune Disorders #T-cell and B-cell Immunology
- GREGoR: Accelerating Genomics for Rare Diseases
2024/12/18 by Moez Dawood, Dawood, Moez, Ben Heavner +64 · 3 voices
#q-bio.OT
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
2023/02/06 by Afshin Saffari, Tracy Lau, Homa Tajsharghi +129 · 8 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Neurogenetic and Muscular Disorders Research #Neurological disorders and treatments #RNA regulation and disease