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MiR‐497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling

Journal of bone and mineral research, 2015-05, Vol.30 (5), p.796-808

2015

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Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

Journal of cardiovascular electrophysiology, 2020-06, Vol.31 (6), p.1527-1535

2020

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Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

Journal of medical Internet research, 2024-03, Vol.26 (2), p.e42904-e42904

2024

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Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita

Archives of gynecology and obstetrics, 2021-04, Vol.303 (4), p.943-953

2021

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A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.2028-2033

2018

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Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica

PLoS genetics, 2018-03, Vol.14 (3), p.e1007242-e1007242

2018

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The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta

Journal of vascular surgery, 2013-06, Vol.57 (6), p.1628-1636.e3

2013

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.232-240

2007

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Genetik und Diagnostik des primären Lymphödems

Phlebologie (Stuttgart, Germany), 2021-04, Vol.50 (2), p.105-114

2021

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Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

BMC genomics, 2011-03, Vol.12 (1), p.158-158, Article 158

2011

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

American journal of human genetics, 2008-02, Vol.82 (2), p.464-476

2008

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The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

JBMR plus, 2018-05, Vol.2 (3), p.174-186

2018

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Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

Bone (New York, N.Y.), 2013-08, Vol.55 (2), p.292-297

2013

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miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules

The international journal of biochemistry & cell biology, 2013-03, Vol.45 (3), p.696-705

2013

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Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Journal of human genetics, 2015-08, Vol.60 (8), p.419-425

2015

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Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts

Journal of bone and mineral research, 2009-07, Vol.24 (7), p.1247-1262

2009

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BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation

Scientific reports, 2017-12, Vol.7 (1), p.17192-13, Article 17192

2017

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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Journal of medical Internet research, 2020-10, Vol.22 (10), p.e19263-e19263

2020

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Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses

Bone (New York, N.Y.), 2018-08, Vol.113, p.29-40

2018

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Evaluation of the role of STAP1 in Familial Hypercholesterolemia

Scientific reports, 2019-08, Vol.9 (1), p.11995-8, Article 11995

2019

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A machine learning-based screening tool for genetic syndromes in children

The Lancet. Digital health, 2022-05, Vol.4 (5), p.e295-e295

2022

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HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families

Genetics in medicine, 2023-11, Vol.25 (11), p.100928-100928, Article 100928

2023

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On microRNA-214 suppressing osteogenic differentiation of C2C12 myoblast cells by targeting Osterix

Bone (New York, N.Y.), 2013-11, Vol.57 (1), p.325-327

2013

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Deletions of chromosomal regulatory boundaries are associated with congenital disease

Genome biology, 2014-09, Vol.15 (9), p.423-423, Article 423

2014

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MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

PloS one, 2011-01, Vol.6 (1), p.e16250-e16250

2011

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MiR‐497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita

A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Genetik und Diagnostik des primären Lymphödems

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

The Interaction of BMP2-Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules

Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

A machine learning-based screening tool for genetic syndromes in children

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families

On microRNA-214 suppressing osteogenic differentiation of C2C12 myoblast cells by targeting Osterix

Deletions of chromosomal regulatory boundaries are associated with congenital disease

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

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