Zih‐Hua Fang

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

The paper identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

Multi-ancestry analysis of POLG variants in Parkinson's disease

This study analyzes POLG variants in Parkinson's disease across multiple ancestries and finds rare pathogenic variants in some cases, suggesting potential contributions to PD in isolated instances.

The Global Parkinson's Disease Genetics (GP2) Genome Browser

The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.

Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease

The paper identifies rare noncoding variants associated with Parkinson's disease using multi-omic data from over 3.3 million nuclei.

TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease

The paper identifies FGF14 GAA repeat expansions in Parkinson's disease using long-read sequencing and finds they occur in both patients and controls.

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinsons disease

The paper identifies PPM1M as a phosphatase that reverses LRRK2-mediated Rab phosphorylation and links a rare mutation to Parkinson's disease.

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.

Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populations

The paper identifies novel runs of homozygosity linked to Parkinson's disease risk and age at onset across diverse populations using genome-wide data.

GenoTools: An Open-Source Python Package for Efficient Genotype Data Quality Control and Analysis

GenoTools provides a Python package for genotype data QC, ancestry estimation, and GWAS, enabling scalable and reproducible analysis of large genetic datasets.

Parkinson's Families Project: a UK-wide study of early onset and familial Parkinson's disease

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

Understanding monogenic Parkinson's disease at a global scale

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinsons Disease in African and African Admixed Populations

Intronic GBA1 variant rs3115534-G, common in African and African admixed ancestry but rare elsewhere, raises Parkinson's disease risk (OR 1.58) and lowers onset age.

Global Parkinson's Genetics Program (GP2) Complex Network Protocol: Defining the causes of sporadic Parkinson's disease

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

The paper establishes a protocol for whole-genome sequencing to identify genetic causes of Parkinson's disease, focusing on monogenic variants and their clinical implications.

Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies

The paper constructs structural variant-based pangenomes from haplotype-resolved bovine assemblies and identifies variants potentially affecting phenotype.

A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities

The paper identifies a 1-bp deletion in QRICH2 as a recessive cause of low sperm count and immotile sperm with morphological abnormalities in Brown Swiss bulls.

Novel functional sequences uncovered through a bovine multi-assembly graph

The paper constructs a multi-assembly graph from bovine genomes to uncover non-reference sequences, revealing novel transcripts and polymorphic sites.

Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing

The paper identifies an intronic deletion in DNAH17 causing infertility in pigs due to defective sperm flagella by disrupting splicing and axoneme assembly.

A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita

The paper identifies a 63-bp insertion in the KIF21A gene as the causal mutation for arthrogryposis multiplex congenita in pigs.

Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility

The paper identifies a recessive allele in WDR19 associated with reduced semen quality and male fertility in cattle, showing it activates cryptic splicing and reduces protein expression.

Multi-trait meta-analyses reveal 25 quantitative trait loci for economically important traits in Brown Swiss cattle

The paper identifies 25 QTL for economically important traits in Brown Swiss cattle using multi-trait meta-analyses of GWAS data from 4,578 bulls.