ULM

Dr. Amjad Khan(Assistant Professor (PhD in Human Genetics))

Academic Record Experience Publications

Degree	Year	Board/Institute
PostDoc	2021	University Of Strasbourg, Strasbourg 67081, France
PhD	2018	China Medical University, Shenayng 110122 China
MS/MPhil	2015	Quaid-i-Azam University, Islamabad 45320, Pakistan

From	To	Post Held	Organization
2019-01-25	2020-01-24	Postdoctoral Researcher	King Abdullah International Medical Research Center (KAIMRC),Riyadh 11481 Saudi Arabia
2020-01-13	2021-02-02	Postdoctoral Researcher	University Of Strasbourg, Strasbourg 67081, France

Sr#	Key Publications
1	Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet A. 2015; 167A (12):3148-3152.doi:10.1002/ajmg.a.37299. https://www.ncbi.nlm.nih.gov/pubmed/26333564.
2	Kang H, Wang H, Fan Z, Zhao P, Khan A, Yin Z, Wang J, Bao W, Wang A, Zhang Q, Liu JF Kang H, Wang H, Fan Z, et al. Resequencing diverse Chinese indigenous breeds to enrich the map of genomic variations in swine. Genomics. 2015;106 (5):286-294. doi:10.1016/j.ygeno.2015.08.002. https://www.ncbi.nlm.nih.gov/pubmed/26296457.
3	Wang R, Khan A, Han S, Zhang X. Wang R, Khan A, Han S, Zhang X. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. J Hum Genet. 2017; 62(2):299-304. doi:10.1038/jhg.2016.128. https://www.ncbi.nlm.nih.gov/pubmed/27784895.
4	Nawaz W, Khan FU, Khan MZ, Gang W, Yang M, Liao X, Zhang L, Ihsan AU, Khan A, Han L, Zhou X. Exo-organoplasty interventions: A brief review of past, present and future directions for advance heart failure management. Biomed Pharmacother. 2017; 88:162-172. doi:10.1016/j.biopha.2017.01.048. https://www.ncbi.nlm.nih.gov/pubmed/28103510.
5	Wang R, Han S, Khan A, Zhang X. Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. Genet Test Mol Biomarkers. 2017; 21(5):316-321. doi:10.1089/gtmb.2016.0328. https://www.ncbi.nlm.nih.gov/pubmed/28281779.
6	Khan A, Wang R, Han S, Ahmad W, Zhang X. A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family. Hum Genome Var. 2017; 4:17054. Published 2017 Dec 14. doi:10.1038/hgv.2017.54. https://www.ncbi.nlm.nih.gov/pubmed/29263794.
7	Khan A, Wang R, Han S, Ahmad W, Zhang X. Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing. Genet Test Mol Biomarkers. 2018; 22(3):159-164. doi:10.1089/gtmb.2017.0229. https://www.ncbi.nlm.nih.gov/pubmed/29431480.
8	Zhan X, Adnan A, Zhou Y, Khan A, Kasim K, McNevin D. Forensic characterization of 15 autosomal STRs in four populations from Xinjiang, China, and genetic relationships with neighboring populations. Sci Rep. 2018; 8(1):4673. Published 2018 Mar 16. doi:10.1038/s41598-018-22975-6. https://www.ncbi.nlm.nih.gov/pubmed/29549272.
9	Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X. Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. Mol Genet Genomic Med. 2019; 7(9):e917. doi:10.1002/mgg3.917. https://www.ncbi.nlm.nih.gov/pubmed/31389194.
10	Alshabeeb MA, Deneer VHM, Khan A, Asselbergs FW. Use of Pharmacogenetic Drugs by the Dutch Population. Front Genet. 2019; 10:567. Published 2019 Jul 2. doi:10.3389/fgene.2019.00567.https://www.ncbi.nlm.nih.gov/pubmed/31312209.
11	Umair M, Ahmad F, Bilal M, Asiri A, Younus M, Khan A. A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary. Meta Gene 20 (2019) 100559. https://doi.org/10.1016/j.mgene.2019.100559.https://www.sciencedirect.com/science/article/pii/S2214540019300180.
12	Khan A, Wang R, Han S, Umair M, Abbas S, Khan M. I, Alshabeeb M. A, Alfadhel M, & Zhang X.Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10. BMC medical genetics. 2019; 20(1):166. doi.org/10.1186/s12881-019-0895-7. https://pubmed.ncbi.nlm.nih.gov/31664938/.
13	Umair M , Khan A, Abbas S, Ahmad F, Younus M, Amin W, Nawaz S, Hayat A, Malik E, Alfadhel M. Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D). Front Pediatr. 2019; 7:343. Published 2019 Aug 28. doi:10.3389/fped.2019.00343 https://www.ncbi.nlm.nih.gov/pubmed/31555621.
14	Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X. A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome. Chin Med J (Engl). 2019; 132(14):1755-1757. doi:10.1097/CM9.0000000000000316. https://www.ncbi.nlm.nih.gov/pubmed/31261205.
15	Wang R, Han S, Liu H, Khan A, Xiaerbati H, Yu X, Huang J and Zhang X. Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family. Front Genet. 2019; 10:1060. Published 2019 Oct 29. doi:10.3389/fgene.2019.01060. https://www.ncbi.nlm.nih.gov/pubmed/31737043.
16	Khan A, Wang R, Han S, et al. A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family. Front Pediatr. 2020; 7:526. Published 2020 Jan 9. doi:10.3389/fped.2019.00526. https://pubmed.ncbi.nlm.nih.gov/31998667/.
17	Al Mutairi F, Alkhalaf R, Alkhorayyef A, Alroqi F, Yusra A, Umair M, Nouf F, Khan A, Meshael A, Hamad A, Monira A, Asiri A, Alhamoudi KM, Alfadhel M. Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report. BMC Pulm Med. 2020; 20(1):141. doi: 10.1186/s12890-020-1175-1. https://pubmed.ncbi.nlm.nih.gov/32414360/.
18	Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Biallelic variants in four genes underlying recessive osteogenesis imperfecta. Eur J Med Genet. 2020; 63(8):103954. doi:10.1016/j.ejmg.2020.103954. https://pubmed.ncbi.nlm.nih.gov/32413570/.
19	Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W. PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020; 98(1):80-85. doi:10.1111/cge.13756. https://www.ncbi.nlm.nih.gov/pubmed/32286682.
20	Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation. J Exp Med. 2020; 217(12):e20192275. doi:10.1084/jem.20192275. https://pubmed.ncbi.nlm.nih.gov/32766723/.
21	Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R. Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. Genes (Basel). 2020 Aug 31; 11 (9):E1021. doi: 10.3390/genes11091021. https://pubmed.ncbi.nlm.nih.gov/32878022/.
22	Khan A., Umair M., Sharaf R. A., Khan M. I., Ullah A., Abbas S, Shaheen N., Bilal M, & Ahamd, F. Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability. Hum Genome Var (2020). 7(1), 41 https://pubmed.ncbi.nlm.nih.gov/33298898/.
23	Sun L, Khan A, Zhang H, Han S, Habulieti X, Wang R, Zhang X. Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families. Front Pediatr. 2020 Dec 1 doi:10.3389/fped.2020.585053. https://pubmed.ncbi.nlm.nih.gov/33335874/.
24	Shaheen N, Verma C, Pacheco-Fernandez T, Volpedo G, Hamid A, Zeb I, Shah SAA, Fahad S, Iqbal A, Ashraf A, Khan A, Gul M, Khan MI, Fatima H, Afzal M, Satoskar AR, Qureshi NA. Molecular characterization and genetic diversity of cutaneous leishmaniasis from North Eastern Pakistan. Acta Trop. 2021 May 20:105964. doi: 10.1016/j.actatropica.2021.105964. https://pubmed.ncbi.nlm.nih.gov/34023304/.
25	Umair M, Palander O, Bilal M, Almuzzaini B, Alam Q, Ahmad F, Younus M, Khan A, Waqas A, Rafeeq MM, Alfadhel M. Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A. Genomics. 2021; 113(4):2495-2502. doi: 10.1016/j.ygeno.2021.05.015. Epub ahead of print. PMID: 34022343. https://pubmed.ncbi.nlm.nih.gov/34022343/.
26	Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021; 23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. https://pubmed.ncbi.nlm.nih.gov/33531666/.
27	Mahmood A, Shah AA, Umair M, Wu Y, Khan A. Recalling the Pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up. Clin Genet. 2021. doi: 10.1111/cge.14019. https://pubmed.ncbi.nlm.nih.gov/34195994/.
28	Khan A, Molitor A, Mayeur S, Zhang G, Rinaldi B, Lannes B, Lhermitte B, Umair M, Arold ST, Friant S, Rastegar S, Anheim M, Bahram S, Carapito R. A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia. Mov Disord. 2021. doi: 10.1002/mds.28861. https://pubmed.ncbi.nlm.nih.gov/34820905/.
29	Ullah A, Lin Z, Younus M, Shafiq S, Khan S, Rasheed M, Mahmood A, Alqosaibi AI, Alshehri MA, Khan A, Umair M. Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26. J Gene Med. 2022 Apr; 24(4):e3412. doi: 10.1002/jgm.3412. Epub 2022 Feb 7. PMID: 35075722. https://pubmed.ncbi.nlm.nih.gov/35075722/.
30	Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Hum Mutat. 2022 May 24. doi: 10.1002/humu.24414.PMID: 35607920. https://pubmed.ncbi.nlm.nih.gov/35607920/.
31	M Alshabeeb, FA Alomar, Khan A. Impact of SLCO1B1*5 on Flucloxacillin and Co-Amoxiclav–Related Liver Injury. Front. Pharmacol., 08 June 2022. doi: 10.3389/fphar.2022.882962. https://pubmed.ncbi.nlm.nih.gov/35754504/.
32	Khan A, Bruno LP, Alomar F, Umair M, Pinto AM, Khan AA, Khan A, Saima , Fabbiani A, Zguro K, Furini S, Mencarelli MA, Renieri A, Resciniti S, Peña-Guerra KA, Guzmán-Vega FJ, Arold ST, Ariani F and Khan SN (2022) SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures. Front. Mol. Neurosci. 15:877258. doi: 10.3389/fnmol.2022.877258. https://pubmed.ncbi.nlm.nih.gov/35782384/.
33	Younus M, Rasheed M, Lin Z, Asiri S, A, Almazni I, A, Alshehri M, A, Shafiq S, Iqbal I, Khan A, Ullah H, Umair M, Waqas A: Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior. Mol Syndromol 2022. doi: 10.1159/000526381