Changrui P. Xiao

Changrui P. Xiao

Medical Genetics | Neurology

101 The City Drive South
Building 30
Orange, CA 92868

Last Updated: 09/26/2026

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Found 26 publications

Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.

Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.

Journal: The Journal of clinical investigation

Published: August 06, 2026

Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

Variant-specific RNA testing resolves variants of uncertain significance in exome testing.

Journal: BMC genomics

Published: March 30, 2026

Kauro, a graph-based chatbot for high-fidelity information transmission conversations.

Kauro, a graph-based chatbot for high-fidelity information transmission conversations.

Journal: medRxiv : the preprint server for health sciences

Published: February 12, 2026

Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.

Journal: American journal of medical genetics. Part A

Published: January 25, 2026

MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred.

MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred.

Journal: Cerebellum (London, England)

Published: December 22, 2025

Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review.

Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review.

Journal: Journal of the American Medical Informatics Association : JAMIA

Published: November 18, 2025

Identification of de novo variants from parent-proband duos via long-read sequencing.

Identification of de novo variants from parent-proband duos via long-read sequencing.

Journal: American journal of human genetics

Published: October 05, 2025

Response to Spurdle et al.

Response to Spurdle et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 03, 2025

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.

A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.

Journal: Molecular genetics & genomic medicine

Published: August 23, 2025

Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.

Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: June 21, 2025

The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG).

The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 01, 2025

Identification of de novo variants from parent-proband duos via long-read sequencing.

Identification of de novo variants from parent-proband duos via long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: March 10, 2025

Showing 1-12 of 26

Last Updated: 09/26/2026