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Physical activity and type-II diabetes mellitus

Deutsche medizinische Wochenschrift, 1992-11, Vol.117 (48), p.1861-1861

1992

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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

PLoS genetics, 2018-12, Vol.14 (12), p.e1007822-e1007822

2018

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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

PLoS genetics, 2020-12, Vol.16 (12), p.e1009190

2020

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FoxO6 regulates Hippo signaling and growth of the craniofacial complex

PLoS genetics, 2018-10, Vol.14 (10), p.e1007675-e1007675

2018

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Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

PLoS genetics, 2018-01, Vol.14 (1), p.e1007138-e1007138

2018

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The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization

Current opinion in genetics & development, 2020-04, Vol.61, p.1-8

2020

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The single-cell transcriptional landscape of mammalian organogenesis

Nature (London), 2019-02, Vol.566 (7745), p.496-502

2019

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Three-dimensional chromatin in disease: What holds us together and what drives us apart?

Current opinion in cell biology, 2020-06, Vol.64, p.1-9

2020

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Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

Nature genetics, 2019-08, Vol.51 (8), p.1263-1271

2019

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Polymer physics predicts the effects of structural variants on chromatin architecture

Nature genetics, 2018-05, Vol.50 (5), p.662-667

2018

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Wir sind dabei! Die Selbsthilfe als starker Partner in der Versorgung

Monatsschrift Kinderheilkunde, 2022, Vol.170 (1), p.38-43

2022

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Formation of new chromatin domains determines pathogenicity of genomic duplications

Nature (London), 2016-10, Vol.538 (7624), p.265-269

2016

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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Cell, 2015-05, Vol.161 (5), p.1012-1025

2015

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Unblending of Transcriptional Condensates in Human Repeat Expansion Disease

Cell, 2020-05, Vol.181 (5), p.1062-1079.e30

2020

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Nosology of genetic skeletal disorders: 2023 revision

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209

2023

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The Genetic Basis of Moyamoya Disease

Translational stroke research, 2022-02, Vol.13 (1), p.25-45

2022

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Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Cell, 1997-05, Vol.89 (5), p.773-779

1997

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Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding

Genome research, 2017-02, Vol.27 (2), p.223

2017

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Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Nature genetics, 2018-10, Vol.50 (10), p.1463-1473

2018

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Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Osteoporosis international, 2018-07, Vol.29 (7), p.1643-1651

2018

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Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Cell reports (Cambridge), 2015-02, Vol.10 (5), p.833-839

2015

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Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Clinical genetics, 2014-10, Vol.86 (4), p.318-325

2014

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Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity

Cell reports (Cambridge), 2023-01, Vol.42 (1), p.111975-111975, Article 111975

2023

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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Human mutation, 2009-03, Vol.30 (3), p.379-390

2009

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Physical activity and type-II diabetes mellitus

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

FoxO6 regulates Hippo signaling and growth of the craniofacial complex

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization

The single-cell transcriptional landscape of mammalian organogenesis

Three-dimensional chromatin in disease: What holds us together and what drives us apart?

Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture

Polymer physics predicts the effects of structural variants on chromatin architecture

Wir sind dabei! Die Selbsthilfe als starker Partner in der Versorgung

Formation of new chromatin domains determines pathogenicity of genomic duplications

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Unblending of Transcriptional Condensates in Human Repeat Expansion Disease

Nosology of genetic skeletal disorders: 2023 revision

The Genetic Basis of Moyamoya Disease

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

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