List of works - Shahid M Baig

A Homozygous Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.

scientific article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

scientific article

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

scientific article

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

scientific article

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

scientific article published on 30 November 2015

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

scientific article published on 20 March 2019

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

scientific article published on 9 August 2008

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

scientific article published on August 2017

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

scientific article published on 01 July 2012

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

scientific article

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

scientific article published on 10 December 2015

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

scientific article

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

scientific article published on 09 August 2020

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

scientific article

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

scientific article

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

scientific article published on 17 July 2020

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

scientific article published on 21 April 2010

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

scientific article published in 2014

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

scientific article

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

scientific article published on 21 December 2016

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

scientific article

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

scientific article published on 29 June 2013

Compound heterozygous ASPM mutations in Pakistani MCPH families

scholarly article by Farooq Muhammad et al published 7 April 2009 in American Journal of Medical Genetics

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

scientific article published on 01 February 2010

Epigenetic regulation of HIV-1 latency: focus on polycomb group (PcG) proteins

scientific article published on 5 February 2018

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

scientific article

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

scientific article

Frizzled6 deficiency disrupts the differentiation process of nail development

scientific journal article

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

scientific article published on 20 August 2016

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

scientific article published on 11 September 2017

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

scientific article published on 01 April 2019

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

scientific article published on 6 December 2017

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

scientific article

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

scientific article published on April 2013

Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital

scientific article published on 29 January 2019

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

scientific article

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

scientific article

Modifier Genes in Microcephaly: A Report on , , and Variants Exacerbating Disease Caused by Biallelic Mutations of and

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

scientific article

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

article

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

scientific article published on 11 September 2017

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

scientific article published on 6 July 2017

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

scientific article published in March 2012

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

scientific article published on 21 October 2016

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

scientific article

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

scientific article

Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan

scientific article published on October 2006

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

scientific article published on 24 May 2019

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

scientific article published on 16 November 2020

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukemia patients is associated with imatinib resistance: implications in the post-imatinib era

scientific article

Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

scientific article published in March 2006

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

scientific article

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

scientific article

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

scientific article published on 18 July 2020

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

scientific journal article

Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

scientific article published on 04 July 2019

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan

scientific article published in March 2012

List of works by Shahid M Baig

A Homozygous Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers

A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

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

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis

Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

Compound heterozygous ASPM mutations in Pakistani MCPH families

Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1

Epigenetic regulation of HIV-1 latency: focus on polycomb group (PcG) proteins

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Frizzled6 deficiency disrupts the differentiation process of nail development

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

Identifying the reasons for delayed presentation of Pakistani breast cancer patients at a tertiary care hospital

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Modifier Genes in Microcephaly: A Report on , , and Variants Exacerbating Disease Caused by Biallelic Mutations of and

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

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

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukemia patients is associated with imatinib resistance: implications in the post-imatinib era

Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans

Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan