Author

Muhammad Ansar

Quaid-i-Azam UniversityORCID 0000-0001-5891-7063Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Suzanne M. LealiD· 2 shared A Heidari· 1 shared A Mikhailov· 1 shared Abdul NooriD· 1 shared Ahmet YeşilyurtiD· 1 shared Aida Bytyci TelegrafiiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Suzanne M. LealORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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GeneticsbioRxivPreprintJul 31, 2019

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

David B. Beck, Ana Petracovici, Chongsheng He…·Jill A. Fahrner

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

2 citations

humanDNA methylation

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GeneticsMolecular PsychiatryPeer-reviewedApr 11, 2017

Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families

Ricardo Harripaul, Nasim Vasli, A Mikhailov…·John B. Vincent

182 citationstop 1%

humanwhole-exome sequencing

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