DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome

(2020) Sheng Deng et al.   BIOSCIENCE REPORTS

Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China

(2020) Zhuoyao Guo et al.   JOURNAL OF PEDIATRICS

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

(2020) Amirpouyan Namavarian et al.   Molecular Genetics & Genomic Medicine

Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report

(2020) Lili Zhang et al.   BMC Neurology

Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

(2020) Rüdiger Schultz et al.   BMC Medical Genetics

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder

(2019) Hong Xia et al.   GENETICS AND MOLECULAR BIOLOGY

DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome

(2019) Sida Liu et al.   Scientific Reports

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

(2018) Amelia Shoemark et al.   EUROPEAN RESPIRATORY JOURNAL

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

(2018) F. Fu et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis

(2018) Wei-Jie Guan et al.   Journal of Thoracic Disease

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

(2018) Asaf Ta-Shma et al.   PLoS Genetics

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1

(2017) Pengzhi Hu et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder

(2017) Hong Xia et al.   Molecular Medicine Reports

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

(2016) Francesco Vetrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel

(2016) Francesca Boaretto et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A human laterality disorder caused by a homozygous deleterious mutation inMMP21

(2015) Zeev Perles et al.   JOURNAL OF MEDICAL GENETICS

Genetic basis of human left–right asymmetry disorders

(2015) Hao Deng et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy

(2012) Nader Nakhleh et al.   CIRCULATION

A human laterality disorder associated with recessiveCCDC11mutation

(2012) Zeev Perles et al.   JOURNAL OF MEDICAL GENETICS

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

(2011) Jane S. Lucas et al.   HUMAN MUTATION

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

(2010) M. Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Disorders of left-right asymmetry: Heterotaxy and situs inversus

(2009) Mardi J. Sutherland et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

(2008) Bhagyalaxmi Mohapatra et al.   HUMAN MOLECULAR GENETICS

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION