M. Tariq

发表

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

S. Mundlos, P. Krawitz, E. Klopocki, 2012, Journal of Medical Genetics.

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

N. Tommerup, Tanveer Mustafa, M. Tariq, 2017, Psychiatry investigation.

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

W. Ahmad, M. Amin-ud-din, M. Jelani, 2008, Human Genetics.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ

S. Baig, P. Nürnberg, S. Tinschert, 2021, Genes.

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

S. Baig, N. Dahl, J. Schuster, 2020, International Journal of Hematology.

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

Sijie He, Jianguo Zhang, S. Baig, 2020, BMC Medical Genetics.

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

S. Baig, M. Tariq, Uzma Abdullah, 2019 .

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

S. Baig, N. Dahl, M. Tariq, 2014, PloS one.

Whole exome sequencing identifies a novel variant causing Cockayne syndrome Type I in a consanguineous Pakistani family.

M. Tariq, A. Moawia, S. Waseem, 2022, The International journal of neuroscience.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes

S. Baig, J. Rendu, J. Fauré, 2022, Molecular Genetics and Genomics.

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

S. Baig, N. Dahl, M. Tariq, 2012, BMC Medical Genetics.

&bgr;-Thalassemia in Pakistan: A Pilot Program on Prenatal Diagnosis in Multan

S. Bakhtiar, S. M. Saqlan Naqvi, M. Rahim, 2012, Journal of pediatric hematology/oncology.

A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

W. Ahmad, G. Ali, N. Wasif, 2010, Pediatric dermatology.

CRISPR/Cas9: targeted genome editing for the treatment of hereditary hearing loss

K. Hussain, M. Tariq, Muhammad Tariq, 2020, Journal of Applied Genetics.

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

A. Noegel, P. Frommolt, S. Baig, 2013, Human molecular genetics.

Targeted capture and massively parallel sequencing in pediatric cardiomyopathy: development of novel diagnostics

S. Ware, M. Keddache, M. Tariq, 2012 .

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study

Lisa J. Martin, W. Chung, S. Colan, 2021, Journal of the American Heart Association.

A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1.

S. Basit, W. Ahmad, M. Touseef, 2012, European Journal of Medical Genetics.

A novel missense mutation in the EVC gene underlies Ellis‐van Creveld syndrome in a Pakistani family

W. Ahmad, N. Wasif, M. Tariq, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

A. Sinclair, Sijie He, N. Katsanis, 2021, Human Genetics.

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

S. Baig, N. Dahl, M. Wajid, 2009, European Journal of Human Genetics.

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

S. Basit, W. Ahmad, G. Ali, 2009, Archives of Dermatological Research.

A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22–q11.2

W. Ahmad, M. Tariq, S. M. Jamal, 2008, Human Genetics.

NOVEL PROTEIN-TRUNCATING MUTATIONS IN THE ASPM GENE IN FAMILIES WITH AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

W. Ahmad, A. Gul, M. N. Khan, 2007, Journal of neurogenetics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

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

S. Baig, K. Mäbert, J. Schuster, 2014, BMC Medical Genetics.

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

S. Baig, N. Dahl, T. Lönnerholm, 2018, Clinical genetics.

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

J. Belmont, S. Lalani, S. Ware, 2011, Genome Biology.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

L. Leatherbury, G. Pazour, E. Goldmuntz, 2016, PLoS genetics.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

L. Leatherbury, G. Pazour, E. Goldmuntz, 2016, PLoS genetics.

A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

L. Eichinger, A. Noegel, S. Baig, 2021, Clinical genetics.

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

C. Shaw, J. Belmont, S. Lalani, 2016, Philosophical Transactions of the Royal Society B: Biological Sciences.

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

D. Beeson, J. Newsom-Davis, K. Morten, 1999, Neurology.

Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease

S. Ware, M. Tariq, Jason Cowan, 2014, Human mutation.

Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

S. Basit, W. Ahmad, S. I. Raza, 2009, British Journal of Dermatology.

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

S. Baig, N. Dahl, M. Tariq, 2012, Scientific Reports.

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

S. Baig, N. Dahl, M. Tariq, 2012, European journal of dermatology : EJD.

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

I. Waheed, P. John, W. Ahmad, 2006, Archives of Dermatological Research.

Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

W. Ahmad, M. N. Khan, M. Tariq, 2009, Human Genetics.

Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3

S. Riazuddin, Z. Ahmed, Shaheen N. Khan, 2007, Human Genetics.

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy

S. Ware, G. Geddes, M. Tariq, 2018, Human mutation.

Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype

N. Bibi, A. Wadood, H. Mohamoud, 2021 .

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

A. Noegel, S. Baig, P. Nürnberg, 2016, Molecular Genetics and Genomics.

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family

S. Z. Jamal, J. Erdmann, S. Baig, 2021, Genes.

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

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

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

S. Baig, N. Dahl, M. Tariq, 2014, European Journal of Human Genetics.

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

A. Noegel, S. Baig, P. Nürnberg, 2020, Molecular genetics & genomic medicine.

Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32.

M. Naeem, M. Jelani, M. Tariq, 2011, Journal of dermatological science.

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.

S. Efthymiou, H. Houlden, M. Tariq, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Importance of genetic evaluation and testing in pediatric cardiomyopathy.

S. Ware, M. Tariq, 2014, World journal of cardiology.

GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani

H. Bolz, S. Baig, S. Naqvi, 2014 .

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

S. Baig, P. Nürnberg, J. Altmüller, 2021, Genes.

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

S. Baig, R. Raininko, N. Dahl, 2014, BMC Medical Genetics.

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

Hai Yan, S. Baig, F. Zhao, 2018, Familial Cancer.

Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population

Lin Qiu, Chenqing Zheng, M. Masoud, 2021, Frontiers in Pediatrics.

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

S. Baig, N. Dahl, J. Wikström, 2019, Human mutation.

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability

M. Toft, M. Tariq, A. Fatima, 2023, Clinical genetics.

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

A. Parveen, N. Wasif, M. Tariq, 2023, Human genome variation.

The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

J. Erdmann, S. Baig, R. Hartig, 2023, Scientific reports.

Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy

S. Z. Jamal, J. Erdmann, P. Nürnberg, 2023, Clinical genetics.