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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

The Journal of clinical investigation, 2023-09, Vol.133 (18), p.1-13

2023

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Hey2 regulates the size of the cardiac progenitor pool during vertebrate heart development

Development (Cambridge), 2018-11, Vol.145 (22)

2018

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The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development

eLife, 2016-04, Vol.5

2016

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The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling

Science signaling, 2014-12, Vol.7 (355), p.ra117

2014

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Smarcd3b and Gata5 promote a cardiac progenitor fate in the zebrafish embryo

Development (Cambridge), 2011-08, Vol.138 (15), p.3113-3123

2011

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ENU-induced mutation in the DNA-binding domain of KLF3 reveals important roles for KLF3 in cardiovascular development and function in mice

PLoS genetics, 2013-07, Vol.9 (7), p.e1003612

2013

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A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1821-n/a

2021

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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

Clinical genetics, 2020-09, Vol.98 (3), p.299-302

2020

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Trio RNA sequencing in a cohort of medically complex children

American journal of human genetics, 2023-05, Vol.110 (5), p.895-900

2023

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SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3528-3541

2023

Volltextzugriff (PDF)

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

American journal of human genetics, 2023-11, Vol.110 (11), p.1919-1937

2023

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The selector genes midline and H15 control ventral leg pattern by both inhibiting Dpp signaling and specifying ventral fate

Developmental biology, 2019-11, Vol.455 (1), p.19-31

2019

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

Brain (London, England : 1878), 2023-06, Vol.146 (6), p.2285-2297

2023

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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Genetics in medicine, 2022-11, Vol.24 (11), p.2399-2407

2022

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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Genetics in medicine, 2024-02, Vol.26 (2), p.101012, Article 101012

2024

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Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in medicine, 2023-08, Vol.25 (8), p.100863-100863, Article 100863

2023

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Mespaa can potently induce cardiac fates in zebrafish

Developmental biology, 2016-10, Vol.418 (1), p.17-27

2016

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Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.663-667

2019

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Analysis of the pro-cardiac activity conferred by Gata5 and Smarcd3b in the zebrafish embryo

Developmental biology, 2011-08, Vol.356 (1), p.172-172

2011

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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

Hey2 regulates the size of the cardiac progenitor pool during vertebrate heart development

The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development

The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling

Smarcd3b and Gata5 promote a cardiac progenitor fate in the zebrafish embryo

ENU-induced mutation in the DNA-binding domain of KLF3 reveals important roles for KLF3 in cardiovascular development and function in mice

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

Trio RNA sequencing in a cohort of medically complex children

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The selector genes midline and H15 control ventral leg pattern by both inhibiting Dpp signaling and specifying ventral fate

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Mespaa can potently induce cardiac fates in zebrafish

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease

Analysis of the pro-cardiac activity conferred by Gata5 and Smarcd3b in the zebrafish embryo

ENU-induced Mutation in the DNA-binding Domain of KLF3 Reveals Important Roles for KLF3 in Cardiovascular Development and Function in Mice: e1003612

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