M. Ansar

D. Nickerson, S. Leal, M. Bamshad, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

M. Mattheisen, R. Betz, W. Ahmad, 2015, PloS one.

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

D. Misceo, P. Strømme, E. Frengen, 2016, Genes.

Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair

W. Ahmad, M. Ayub, G. Ali, 2015, The Australasian journal of dermatology.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

S. Basit, W. Ahmad, G. Ali, 2010, Human Genetics.

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

S. Basit, W. Ahmad, M. Jelani, 2010, Journal of child neurology.

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.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.

S. Leal, R. Stevenson, G. B. Schaefer, 2020, American journal of human genetics.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

J. Shendure, D. Nickerson, S. Leal, 2016, BMC Medical Genetics.

Emergence of hypermucoviscous colistin-resistant high-risk convergent Klebsiella pneumoniae ST-2096 clone from Pakistan.

Muhammad Imran, M. Ansar, R. Faryal, 2022, Future microbiology.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

S. Leal, C. Cremers, J. Veltman, 2010, American journal of human genetics.

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

S. Basit, W. Ahmad, M. Ansar, 2012, Human Genetics.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Novel CLDN14 mutations in Pakistani families with autosomal recessive non‐syndromic hearing loss

S. Leal, W. Ahmad, R. Santos-Cortez, 2012, American journal of medical genetics. Part A.

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with Hereditary Sensory and Autonomic Neuropathy Type IIC.

M. Rafiq, M. Azam, R. Qamar, 2022, The International journal of neuroscience.

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment

Lana M. Pollock, D. Nickerson, S. Leal, 2021, European journal of human genetics : EJHG.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

S. Basit, W. Ahmad, S. I. Raza, 2012, Molecular Biology Reports.

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

S. Basit, S. Mahmood, A. Mir, 2011, BMC neurology.

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

J. Vincent, P. Gönczy, C. Enzinger, 2014, Human molecular genetics.

A novel WDR62 mutation causes primary microcephaly in a Pakistani family

S. Basit, W. Ahmad, S. I. Raza, 2012, Molecular Biology Reports.

Exome sequencing identifies novel and known mutations in families with intellectual disability

J. Vincent, M. Ansar, R. Harripaul, 2021, BMC Medical Genomics.

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families

U. Ullah, W. Ahmad, U. Kalsoom, 2021, Klinische Pädiatrie.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

D. Nickerson, S. Leal, M. Bamshad, 2017, International journal of dermatology.

Mutation of ATF6 causes autosomal recessive achromatopsia

J. Shendure, D. Nickerson, S. Leal, 2015, Human Genetics.

Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.

S. Basit, W. Ahmad, Irfanullah, 2015, Journal of dermatological science.

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family.

S. Basit, M. Coenen, Z. Iqbal, 2011, Archives of medical research.

A novel homozygous missense mutation in WNT10B in familial split‐hand/foot malformation

W. Ahmad, G. Ali, N. Ali, 2012, Clinical genetics.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

D. Misceo, S. Antonarakis, S. Riazuddin, 2018, Genetics in Medicine.

Inability of the most commonly used forensic genetic markers to distinguish between samples belonging to different ethnicities of Pakistan with diverse genetic background.

A. Eriksson, A. Manica, M. Ajmal, 2016, Forensic science international. Genetics.

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

A. Noor, J. Vincent, M. Rafiq, 2011, BMC Medical Genetics.

Exome sequencing identifies novel and known mutations in families with intellectual disability

J. Vincent, M. Ansar, R. Harripaul, 2021, BMC medical genomics.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

J. Vincent, M. Rafiq, L. Mottron, 2015, BMC Medical Genetics.

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

S. Leal, S. Basit, W. Ahmad, 2018, Journal of Human Genetics.

Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families

W. Ahmad, R. Habib, M. Ansar, 2013, The British journal of dermatology.

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

S. Leal, W. Ahmad, S. Khan, 2011, Genetics research international.

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment

W. Ahmad, R. Santos-Cortez, M. Ansar, 2012, Clinical genetics.

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix

Richard A Spritz, R. Spritz, W. Ahmad, 2016, Journal of Medical Genetics.

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes

G. Zaman, H. Houlden, Xue Zhang, 2023, The journal of gene medicine.

Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene

W. Ahmad, M. Ansar, A. Wali, 2006, Clinical and experimental dermatology.

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

D. Nickerson, S. Leal, M. Bamshad, 2018, The British journal of dermatology.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene

T. Siddique, M. Rafiq, S. Mahmood, 2006, Neurogenetics.

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

M. Froeyen, Michiel Vanmeert, S. Khan, 2019, Molecular genetics & genomic medicine.

DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22–q21.12

S. Leal, W. Ahmad, M. Wajid, 2003, European Journal of Human Genetics.

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32‐p11.31

S. Leal, M. Chahrour, A. Mir, 2005, American journal of medical genetics. Part A.

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31‐q22.3

S. Leal, M. Chahrour, W. Ahmad, 2005, American journal of medical genetics. Part A.

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

C. Gilissen, E. Ullah, J. Corominas, 2023, Genes.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

S. Antonarakis, C. Pournaras, C. Rivolta, 2019, Human molecular genetics.

Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2‐q12

K. Grzeschik, W. Ahmad, M. Ansar, 2006, Clinical genetics.

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

Suzanne M. Leal, S. Leal, W. Ahmad, 2011, Genetics research international.

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3

S. Leal, W. Ahmad, M. Ansar, 2009, Journal of Human Genetics.

A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family

S. Basit, W. Ahmad, G. Ali, 2021, European Journal of Dermatology.

A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

J. Shendure, D. Nickerson, S. Leal, 2015, Journal of Medical Genetics.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

L. Vissers, H. Peeters, J. Veltman, 2013, Human molecular genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene

S. Leal, W. Ahmad, R. Santos-Cortez, 2011, Genetics research international.