List of works - Maimoona A Zariwala

Primary ciliary dyskinesia: diagnostic and phenotypic features

scientific article published on 4 December 2003

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

scientific article

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

scientific article

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

scientific article published on October 15, 2013

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

scientific article

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

scientific article

Genetic defects in ciliary structure and function

scientific article

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

scientific article

DYX1C1 is required for axonemal dynein assembly and ciliary motility

scientific article

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

scientific article

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

scientific article published on December 2013

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

scientific article

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

scientific article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

scientific article published on March 2014

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

scientific article

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

scientific article

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

scientific article

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

scientific article

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

scientific article

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

scientific article published in July 2007

High-resolution CT of patients with primary ciliary dyskinesia

scientific article published in May 2007

The Emerging Genetics of Primary Ciliary Dyskinesia

scientific article published on September 1, 2011

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

scientific article

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

scientific article published on 12 April 2016

Primary Ciliary Dyskinesia

scientific article published on 30 June 2016

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

scientific article published on March 2011

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia

scientific article published on 20 November 2003

Primary ciliary dyskinesia: improving the diagnostic approach

scientific article published on June 2009

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

scientific article published on 01 June 2018

Genetic causes of bronchiectasis: primary ciliary dyskinesia

scientific article

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

scientific journal article

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme

scientific article

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

scientific article published on 2 July 2015

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia

scientific article

Primary ciliary dyskinesia.

scientific article

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

scientific article

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia

scientific article

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

scientific article published on 01 January 2019

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

scientific article published on 18 January 2019

Calcium stone lithoptysis in primary ciliary dyskinesia

scientific article published on 6 June 2006

Primary ciliary dyskinesia in Amish communities

scientific article

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

scientific article published on 17 October 2019

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities

scientific article published on 07 March 2013

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

scientific article published on December 6, 2014

List of works by Maimoona A Zariwala

Primary ciliary dyskinesia: diagnostic and phenotypic features

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

Genetic defects in ciliary structure and function

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

High-resolution CT of patients with primary ciliary dyskinesia

The Emerging Genetics of Primary Ciliary Dyskinesia

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Primary Ciliary Dyskinesia

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia

Primary ciliary dyskinesia: improving the diagnostic approach

Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline

Genetic causes of bronchiectasis: primary ciliary dyskinesia

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia

Primary ciliary dyskinesia.

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Calcium stone lithoptysis in primary ciliary dyskinesia

Primary ciliary dyskinesia in Amish communities

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population