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Xueyang Pan

Showing results (21-30 of 28) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
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Showing results (21-30 of 28) with videos related to

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You have reached the last page of results.This site can display upto 28 results.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
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