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List of works by Sadaf Naz

<i>MRM2</i> variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

scientific article published in 2022

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

scientific article published on 12 July 2018

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss

scientific article

A frameshift mutation in SANS results in atypical Usher syndrome

scientific article

A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

scientific article published on 4 May 2015

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.

scientific article published in March 2017

A p.C343S missense mutation in PJVK causes progressive hearing loss

scientific article published on 14 May 2012

Amplification of GC-rich DNA for high-throughput family-based genetic studies.

scientific article published on March 2013

Are some C19orf12 variants monoallelic for neurological disorders?

scientific article published on 13 May 2019

Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum

scientific article published on 25 April 2019

Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant

scientific article published on 22 August 2017

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

scientific article published on 24 April 2019

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

scientific article published on 30 November 2020

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

scientific article published on 23 December 2017

Contribution of GJB2 Mutations to Hearing Loss in the Hazara Division of Pakistan ⬇️

scientific article published on March 17, 2013

Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population

scientific article

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

scientific article (publication date: March 2002)

Dominant modifier DFNM1 suppresses recessive deafness DFNB26

scientific article published on 01 December 2000

Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan.

scientific article

Genetic causes of moderate to severe hearing loss point to modifiers

scientific article

Growth factor and receptor malfunctions associated with human genetic deafness

scientific article published on 11 September 2019

Molecular genetic landscape of hereditary hearing loss in Pakistan

scientific article published in 2021

Mutations in CLDN14 are associated with different hearing thresholds ⬇️

scientific article published on September 2, 2010

Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness

scientific article

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

scientific article published on 24 July 2002

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

scientific article

Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.

scientific article published on 31 January 2015

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

scientific article published on 26 June 2020

Novel lip pit phenotypes and mutations ofIRF6in Van der Woude syndrome patients from Pakistan ⬇️

scientific article published on June 24, 2013

Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss

scientific article published on 30 December 2011

RIN2 and BBS7 variants as cause of a coincidental syndrome

scientific article published on 12 September 2019

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

scientific article published on 16 February 2016

SLC26A4 Mutations in Patients with Moderate to Severe Hearing Loss ⬇️

scientific article published on March 17, 2013

TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.

scientific article

The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family

scientific article

The c.42_52del11 Mutation in TPRN and Progressive Hearing Loss in a Family from Pakistan ⬇️

scientific article published on January 23, 2013

The role of mutations in COL6A3 in isolated dystonia

scientific article

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