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Child–Parent Familial Hypercholesterolemia Screening in Primary Care

The New England journal of medicine, 2016-10, Vol.375 (17), p.1628-1637

2016

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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Kidney international, 2018-04, Vol.93 (4), p.961-967

2018

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Prenatal diagnosis, 2015-07, Vol.35 (7), p.656-662

2015

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Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

American journal of human genetics, 2018-12, Vol.103 (6), p.984-994

2018

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Nature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279

2017

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Clinical and molecular aspects of distal renal tubular acidosis in children

Pediatric nephrology (Berlin, West), 2017-06, Vol.32 (6), p.987-996

2017

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

PloS one, 2017-07, Vol.12 (7), p.e0181874-e0181874

2017

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

American journal of human genetics, 2005-12, Vol.77 (6), p.945-957

2005

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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

BMC medical genetics, 2013-08, Vol.14 (1), p.85-85, Article 85

2013

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Prevalence and architecture of de novo mutations in developmental disorders

Nature (London), 2017-02, Vol.542 (7642), p.433-438

2017

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Journal of medical genetics, 2016-05, Vol.53 (5), p.310-317

2016

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314

2015

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

American journal of human genetics, 2018-01, Vol.102 (1), p.175-187

2018

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The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias

Prenatal diagnosis, 2020-06, Vol.40 (7), p.785-791

2020

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Genetic testing in children with surfactant dysfunction

Archives of disease in childhood, 2013-07, Vol.98 (7), p.490-495

2013

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Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

Clinical chemistry (Baltimore, Md.), 2020-01, Vol.66 (1), p.207-216

2020

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Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

Prenatal diagnosis, 2015-10, Vol.35 (10), p.950-958

2015

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619

2018

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C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

American journal of human genetics, 2018-05, Vol.102 (5), p.956-972

2018

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American journal of human genetics, 2019-05, Vol.104 (5), p.948-956

2019

Volltextzugriff (PDF)

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Clinical genetics, 2020-03, Vol.97 (3), p.509-515

2020

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Child–Parent Familial Hypercholesterolemia Screening in Primary Care

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Clinical and molecular aspects of distal renal tubular acidosis in children

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Prevalence and architecture of de novo mutations in developmental disorders

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3‐related skeletal dysplasias

Genetic testing in children with surfactant dysfunction

Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Delineation of the movement disorders associated with FOXG1 mutations

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