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Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Science (New York, N.Y.)·2019

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Neuropediatrics·2017

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Translational psychiatry·2017

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Human genomics·2016

Guidelines for investigating causality of sequence variants in human disease.

Nature·2014

Pathogenic variants in non-protein-coding sequences.

Clinical genetics·2013

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Human mutation·2026

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Human mutation·2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation·2026

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

Human mutation·2026

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation·2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Human mutation·2026

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Frontiers in cellular and infection microbiology·2026

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

HLA·2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

Virus genes·2026

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

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Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Guidelines for investigating causality of sequence variants in human disease.

Pathogenic variants in non-protein-coding sequences.

From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

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Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

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