My research group is mainly involved in the identification and characterization of genes responsible for retinal and neurological disorders. We are currently using next generation sequencing for the genetic analysis of families with retinal and neurological disorders. Our group has identified many novel genes responsible for intellectual disability, microcephaly and retinal disorders. This work has led to the identification of genetic players which paly role in DNA methylation and protein glycosylation. However, exploration of additional players involved in multi component complexes involved in DNA methylation and glycosylation will enable us to understand neurodevelopment processes in a better way. These players will be identified through genetic analysis of additional families and integration of data from expression studies and protein interaction maps. 

Publications in Last 5 years (Total Publications)

1. Dore R, Chang CT, Declève A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF; Undiagnosed Diseases Network; Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R. ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genet Med. 2025 Jun 23:101506. doi: 10.1016/j.gim.2025.101506. 
2. Saeed T, Bibi N, Ahmad A, Khan S, Ansar M, Wasif N, Kalsoom UE. A Novel Biallelic Variant in IHH Causing Acrocapitofemoral Dysplasia in a Pakistani Family. Mol Genet Genomic Med. 2025 Mar;13(3):e70085.
3. Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O’Keefe RT, Newman WG. Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. Am J Hum Genet. 2025 Apr 3;112(4):952-962.
4. Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S. Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan. Exp Eye Res. 2024 Jul;244:109945.
5. Khan FU, Khan H, Ullah K, Nawaz S, Abdullah, Khan MJ, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan IU, Ali RH, Hasni MS, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack TB, Ji W, Lakhani SA, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clin Genet. 2024 Sep;106(3):347-353.
6. Abbas E, Fawwad A, Siddiqui IA, Afzal MS, Ansar M, Saqib MAN, Shahid SM. Risk Factors for the Development of Early Onset Diabetes in the Population of Sindh Province, Pakistan. Biomedicines. 2025 May 2;13(5):1107.
7. Malik MA, Saqib MAN, Mientjes E, Acharya A, Alam MR, Wallaard I, Schrauwen I, Bamshad MJ, Santos-Cortez RLP, Elgersma Y, Leal SM, Ansar M. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. Eur J Hum Genet. 2023 Dec;31(12):1447-1454.
8. Basharat R, Rodenburg K, Rodríguez-Hidalgo M, Jarral A, Ullah E, Corominas J, Gilissen C, Zehra ST, Hameed U, Ansar M, de Bruijn SE. Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients. Genes (Basel). 2023 Aug 1;14(8):1573.
9. Khan S, Umair M, Abbas S, Ali U, Zaman G, Ansar M, Wang R, Zhang X, Houlden H, Harlalka GV, Gul A.  Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes. J Gene Med. 2023 May 13:e3513. 
10. Liaqat K, Hussain S, Acharya A, Nasir A, Bharadwaj T, Ansar M, Basit S, Schrauwen I, Ahmad W, Leal SM. Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family. Genes (Basel). 2022 Apr 9;13(4):662.
11. Bibi S, Ahmad F, Alam MR, Ansar M, Yeou KS, Wahedi HM. Lapachol-Induced Upregulation of Sirt1/Sirt3 is linked with Improved Skin Wound Healing in Alloxan-induced Diabetic Mice. Iran J Pharm Res. 2021 Summer;20(3):419-430.
12. Nawal W, Ullah A, Ullah U, Farrakh K, Ahmad F, Khan H, Ahmad GS, Khan B, Ansar M, Kalsoom UE, Ahmad W. Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families. Klin Padiatr. 2022 May;234(3):123-129.
13. Levy MA, Beck DB, Metcalfe K, Douzgou S, Sithambaram S, Cottrell T, Ansar M, Kerkhof J, Mignot C, Nougues MC, Keren B, Moore HW, Oegema R, Giltay JC, Simon M, van Jaarsveld RH, Bos J, van Haelst M, Motazacker MM, Boon EMJ, Santen GWE, Ruivenkamp CAL, Alders M, Luperchio TR, Boukas L, Ramsey K, Narayanan V, Schaefer GB, Bonasio R, Doheny KF, Stevenson RE, Banka S, Sadikovic B, Fahrner JA. Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. NPJ Genom Med. 2021 Nov 8;6(1):92.
14. Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. J Hum Genet. 2021 Oct;66(10):1009-1018.
15. Shah K, Basit S, Ali G, Ramzan K, Ansar M, Ahmad W. A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family. Eur J Dermatol. 2021 Jun 1;31(3):409-411.
16. Rasheed M, Khan V, Harripaul R, Siddiqui M, Malik MA, Ullah Z, Zahid M, Vincent JB, Ansar M. Exome sequencing identifies novel and known mutations in families with intellectual disability. BMC Med Genomics. 2021 Aug 27;14(1):211.

17.  Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020 Feb 6;106(2):234-245.

1. BioVision Life Sciences Forum, (26^th -30^th March 2011), Lyon, France
2. American Society of Human Genetics Meeting (ASHG2014) 17^th-21^st October 2014, San Diego, USA.
3. World Science Forum 2015 (WSF2015), (4^th to 7^th November 2015) Budapest, Hungary
4. American Society of Human Genetics Meeting (ASHG2016) 17^th-21^st October 2017, Orlando, USA.
5. World Science Forum 2017 (WSF2017), (7^th to 11^th November 2017) Dead Sea, Jordan
6. World Life Science Conference (WLSC 2018) 27^th to 29 ^th October 2018, Beijing, China.
7. World Science Forum 2024 (WSF2024), (20^th to 23^rd November 2024^th) Budapest, Hungary