James R. Lupski

Pediatrics

6701 Fannin St Ste 1560
Houston, TX 77030

Last Updated: 09/26/2026

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Found 524 publications

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants.

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants.

Journal: bioRxiv : the preprint server for biology

Published: July 10, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

Journal: medRxiv : the preprint server for health sciences

Published: April 10, 2026

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Journal: medRxiv : the preprint server for health sciences

Published: March 18, 2026

The Genomics and Genetics of Rare Disease Illuminate Human Biology.

The Genomics and Genetics of Rare Disease Illuminate Human Biology.

Journal: Annual review of genomics and human genetics

Published: March 04, 2026

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Journal: HGG advances

Published: February 09, 2026

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families.

Journal: medRxiv : the preprint server for health sciences

Published: January 08, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

Showing 1-12 of 524

Last Updated: 09/26/2026