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| 36174714 | Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis. | J Invest Dermatol | 2023 |
| 37211199 | Shared Genetic Risk Variants in Both Male and Female Frontal Fibrosing Alopecia. | J Invest Dermatol | 2023 |
| 36810251 | Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove. | JCI Insight | 2023 |
| 36870556 | Genetic Validation of Psoriasis Phenotyping in UK Biobank Supports the Utility of Self-Reported Data and Composite Definitions for Large Genetic and Epidemiological Studies. | J Invest Dermatol | 2023 |
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| 35507331 | Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling. | Arthritis Rheumatol | 2022 |
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| 35876425 | MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. | Mov Disord | 2022 |
| 35132056 | Genome-wide association meta-analysis identifies 29 new acne susceptibility loci. | Nat Commun | 2022 |
| 34949102 | Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death. | Circ Genom Precis Med | 2022 |
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| 32339198 | Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma. | PLoS Genet | 2020 |
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| 30139991 | Noncardiac genetic predisposition in sudden infant death syndrome. | Genet Med | 2019 |
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| 30924144 | Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2). | Br J Haematol | 2019 |
| 30982612 | Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. | Am J Hum Genet | 2019 |
| 30886340 | De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. | Eur J Hum Genet | 2019 |
| 31060593 | Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50â¿¿years. | Breast Cancer Res | 2019 |
| 31028252 | Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. | Nat Commun | 2019 |
| 30850646 | Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. | Nat Commun | 2019 |
| 30655285 | The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension. | Eur Respir J | 2019 |
| 29211899 | Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis. | J Crohns Colitis | 2018 |
| 29915097 | Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. | Circulation | 2018 |
| 29941673 | Mutation in <i>GNE</i> is associated with severe congenital thrombocytopenia. | Blood | 2018 |
| 29857066 | Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes. | J Invest Dermatol | 2018 |
| 29927056 | WNT10A mutation results in severe tooth agenesis in a family of three sisters. | Orthod Craniofac Res | 2018 |
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| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
| 29181510 | Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. | JAMA Neurol | 2018 |