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Tahir N. Khan · SciRah

Researcher profile · Semantic Scholar

Tahir N. Khan

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Tahir N. Khan — researcher profile on SciRah

h-index: 16
Works: 29
Citations: 764

Most-cited papers

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
M. S. Hussain, S. Baig, Sascha Neumann, V. Peche +17 more
2013Human Molecular Genetics122 citations Open access
Semantic Scholar
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
P. Stankiewicz, Tahir N. Khan, P. Szafranski, L. Slattery +34 more
2017American Journal of Human Genetics83 citations Open access
Semantic Scholar
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics76 citations Open access
Semantic Scholar
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
C. Guissart, X. Latypova, Paul Rollier, Tahir N. Khan +55 more
2018American Journal of Human Genetics73 citations Open access
Semantic Scholar
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics52 citations Open access
Semantic Scholar
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
Tahir N. Khan, J. Klar, M. Tariq, Shehla Anjum Baig +4 more
2014European Journal of Human Genetics46 citations Open access
Semantic Scholar
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Tahir N. Khan, Kamal Khan, A. Sadeghpour, H. Reynolds +6 more
2019American Journal of Human Genetics35 citations Open access
Semantic Scholar
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
L. Grange, J. Reynolds, Farid Ullah, B. Isidor +44 more
2022Nature Communications34 citations Open access
Semantic Scholar
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Asaf Ta-Shma, Tahir N. Khan, A. Vivante, J. Willer +9 more
2017American Journal of Human Genetics31 citations Open access
Semantic Scholar
Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation.
Tahir N. Khan, J. Klar, Zafar Ali, F. Khan +2 more
2013European Journal of Medical Genetics27 citations
Semantic Scholar
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, M. Zech, A. Morgan, D. Amor +26 more
2019Genetics in Medicine23 citations Open access
Semantic Scholar
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
X. Latypova, M. Vincent, Alice Mollé, O. Adebambo +42 more
2021American Journal of Human Genetics22 citations Open access
Semantic Scholar
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
Tahir N. Khan, J. Klar, Sadia Nawaz, M. Jameel +4 more
2012BMC Medical Genetics21 citations Open access
Semantic Scholar
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
J. Schuster, Tahir N. Khan, M. Tariq, P. A. Shaiq +3 more
2014BMC Medical Genetics18 citations Open access
Semantic Scholar
Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
D. Raykova, J. Klar, Aysha Azhar, Tahir N. Khan +5 more
2014PLoS ONE17 citations Open access
Semantic Scholar
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
J. Klar, J. Schuster, Tahir N. Khan, M. Jameel +5 more
2015Journal of Medical Genetics16 citations
Semantic Scholar
Genetic dissection of Chiari malformation type 1 using endophenotypes and stratification
Aintzane Urbizu, Tahir N. Khan, A. Ashley-Koch
201714 citations Open access
Semantic Scholar
&bgr;-Thalassemia in Pakistan: A Pilot Program on Prenatal Diagnosis in Multan
Shahid Mahmood Baig, D. Sabih, Muhammad Kashif Rahim, Aysha Azhar +12 more
2012Journal of pediatric hematology/oncology13 citations
Semantic Scholar
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Chunyu Liu, M. Ajmal, Zaineb Akram, T. Ghafoor +8 more
2021BMC Medical Genomics7 citations Open access
Semantic Scholar
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
M. Tariq, Tahir N. Khan, L. Lundin, M. Jameel +4 more
2018Clinical Genetics7 citations
Semantic Scholar
Regulatory de novo mutations underlying intellectual disability
Matias G. De Vas, Fanny Boulet, Shweta S. Joshi, Myles G. Garstang +12 more
2022Life Science Alliance5 citations Open access
Semantic Scholar
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees
Kamal Khan, S. Mehmood, Chunyu Liu, M. Siddiqui +17 more
2021American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Candidate variants in TUB are associated with familial tremor
M. R. Sailani, F. Jahanbani, Charles W. Abbott, Ha-Yan Lee +14 more
2020PLoS Genetics5 citations Open access
Semantic Scholar
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
S. Baig, Ambrin Fatima, M. Tariq, Tahir N. Khan +10 more
2018Familial Cancer5 citations
Semantic Scholar
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes
Ayaz Khan, Shi-Xiong Tian, M. Tariq, Sheraz Khan +20 more
2022Zeitschrift für Induktive Abstammungs- und Vererbungslehre4 citations
Semantic Scholar
De novo variants in population constrained fetal brain enhancers and intellectual disability
M. D. De Vas, M. Garstang, Shweta S. Joshi, Tahir N. Khan +12 more
2019bioRxiv2 citations Open access
Semantic Scholar
Gastric tuberculosis with concomitant stromal tumour of stomach (GIST).
Saleem Khan, R. G. Asghar, M. Mirza, Tahir N. Khan
2003Journal of the College of Physicians and Surgeons--Pakistan : JCPSP2 citations
Semantic Scholar
Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family
Sadia Nawaz, M. Tariq, Aysha Azhar, M. Rasool +9 more
2011Pakistan Journal of Medical Sciences1 citations Open access
Semantic Scholar
GENE IDENTIFICATION IN MENDELIAN DISORDERS USING STR MAPPING, SNP GENOTYPING AND WHOLE-EXOME SEQUENCING
Tahir N. Khan
20140 citations
Semantic Scholar

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S. Baig — researcher profile on SciRah
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X. Latypova — researcher profile on SciRah

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Kamal Khan — researcher profile on SciRah

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N. Dahl — researcher profile on SciRah

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P. Stankiewicz — researcher profile on SciRah