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Cellular and molecular mechanisms underlying muscular dystrophy

The Journal of cell biology, 2013-05, Vol.201 (4), p.499-510

2013

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Genetics of Nonsyndromic Orofacial Clefts

The Cleft palate-craniofacial journal, 2012-01, Vol.49 (1), p.73-91

2012

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CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies

Cell stem cell, 2016-12, Vol.19 (6), p.800-807

2016

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Emerging preclinical animal models for FSHD

Trends in molecular medicine, 2015-05, Vol.21 (5), p.295-306

2015

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MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms

The Journal of clinical investigation, 2014-06, Vol.124 (6), p.2651-2667

2014

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Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

Human molecular genetics, 2012-10, Vol.21 (20), p.4419-4430

2012

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High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene

Nature communications, 2024-11, Vol.15 (1), p.9568-14, Article 9568

2024

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Functional characterization of a single nucleotide polymorphism associated with Alzheimer’s disease in a hiPSC-based neuron model

PloS one, 2023-09, Vol.18 (9), p.e0291029-e0291029

2023

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Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Nature genetics, 2008-11, Vol.40 (11), p.1341-1347

2008

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Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease

PloS one, 2019-10, Vol.14 (10), p.e0222952

2019

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Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

Proceedings of the National Academy of Sciences - PNAS, 2012-10, Vol.109 (40), p.16234-16239

2012

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Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

Nature structural & molecular biology, 2013-06, Vol.20 (6), p.671-678

2013

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Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

Genome medicine, 2024-03, Vol.16 (1), p.43-14, Article 43

2024

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Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis

Human molecular genetics, 2019-01, Vol.28 (2), p.320-331

2019

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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

PLoS genetics, 2005-12, Vol.1 (6), p.e64-e64

2005

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GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2571-2576

2006

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Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Nature medicine, 2020-04, Vol.26 (4), p.549-557

2020

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Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

Human molecular genetics, 2012-10, Vol.21 (20), p.4419-4430

2012

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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Cell genomics, 2022-09, Vol.2 (9), p.100168-100168, Article 100168

2022

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Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers

Annals of the rheumatic diseases, 2021-12, Vol.80 (12), p.1530-1536

2021

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Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women

Journal of clinical oncology, 2024-05, Vol.42 (13), p.1477-1487

2024

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Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

Stroke (1970), 2023-07, Vol.54 (7), p.1798-1805

2023

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Dux4 target gene expression in mouse muscle transplanted with muscle cells from FSHD patients

The FASEB journal, 2013-04, Vol.27 (S1)

2013

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Cellular and molecular mechanisms underlying muscular dystrophy

Genetics of Nonsyndromic Orofacial Clefts

CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Emerging preclinical animal models for FSHD

MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene

Functional characterization of a single nucleotide polymorphism associated with Alzheimer’s disease in a hiPSC-based neuron model

Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers

Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women

Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study

Dux4 target gene expression in mouse muscle transplanted with muscle cells from FSHD patients

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