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TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

Cell reports (Cambridge), 2013-06, Vol.3 (6), p.1806-1814

2013

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Of mice and men: molecular genetics of congenital heart disease

Cellular and molecular life sciences : CMLS, 2014-04, Vol.71 (8), p.1327-1352

2014

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MCPH1: A Novel Case Report and a Review of the Literature

Genes, 2022-04, Vol.13 (4), p.634

2022

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Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family

Heliyon, 2024-09, Vol.10 (17), p.e37177, Article e37177

2024

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A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

Journal of human genetics, 2016-03, Vol.61 (3), p.271-273

2016

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Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

American journal of human genetics, 2010-06, Vol.86 (6), p.839-849

2010

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Pericardial delta like non‐canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition

Clinical and translational medicine, 2024-02, Vol.14 (2), p.e1565-n/a

2024

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Mutation burden in patients with small unrepaired atrial septal defects

International journal of cardiology congenital heart disease, 2021-08, Vol.4, p.100164, Article 100164

2021

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Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.720-725

2012

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Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

Human mutation, 2003-05, Vol.21 (5), p.455-465

2003

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Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material

Analytical chemistry (Washington), 2008-12, Vol.80 (23), p.9363-9368

2008

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Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics

Electrophoresis, 2006-10, Vol.27 (19), p.3816-3822

2006

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High‐throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

Human mutation, 2003-02, Vol.21 (2), p.116-122

2003

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One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.161-165

2005

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TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant

European journal of medical genetics, 2024-04, Vol.68, p.104920-104920, Article 104920

2024

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Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac β-myosin gene mutations

Cardiovascular research, 2003-02, Vol.57 (2), p.347-357

2003

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IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases

The Journal of cell biology, 2018-01, Vol.217 (1), p.151-161

2018

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Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect

The American journal of cardiology, 2022-06, Vol.173, p.128-131

2022

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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Nature communications, 2020-11, Vol.11 (1), p.5816-5816, Article 5816

2020

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Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

Human genetics, 2024-09

2024

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High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

Human mutation, 1999, Vol.13 (4), p.318-327

1999

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

PLoS genetics, 2021-07, Vol.17 (7), p.e1009679-e1009679

2021

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Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

Congenital heart disease, 2016-05, Vol.11 (3), p.283-290

2016

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Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

Spine (Philadelphia, Pa. 1976), 2017-06, Vol.42 (12), p.E702-E707

2017

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Cilia and coordination of signaling networks during heart development

Organogenesis, 2014-01, Vol.10 (1), p.108-125

2014

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TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

Of mice and men: molecular genetics of congenital heart disease

MCPH1: A Novel Case Report and a Review of the Literature

Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

Pericardial delta like non‐canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition

Mutation burden in patients with small unrepaired atrial septal defects

Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material

Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics

High‐throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region

TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac β-myosin gene mutations

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases

Comparison of Outcome in Patients With Familial Versus Spontaneous Atrial Septal Defect

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature

Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

Cilia and coordination of signaling networks during heart development

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