PUBLICATIONS

2024

Yousaf A, Yousaf S, Shabbir AS, Yousaf R, Riazuddin S, Shaikh RS, Santos-Cortez RLP, Ahmed ZM. Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family. Mol Genet Genomic Med. 2024 Sep;12(9):e2478. doi: 10.1002/mgg3.2478. PMID: 39302268; PMCID: PMC11414307.

Giese APJ, Parker A, Rehman S, Brown SDM, Riazuddin S, Vander Kooi CW, Bowl MR, Ahmed ZM. CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern. bioRxiv [Preprint]. 2024 Jul 31:2024.07.30.605852. doi: 10.1101/2024.07.30.605852. PMID: 39131343; PMCID: PMC11312573.

Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Commun Biol. 2024 Jul 8;7(1):831. doi: 10.1038/s42003-024-06466-1. PMID: 38977784; PMCID: PMC11231287.

Giese APJ, Weng WH, Kindt KS, Chang HHV, Montgomery JS, Ratzan EM, Beirl AJ, Rivera RA, Lotthammer JM, Walujkar S, Foster MP, Zobeiri OA, Holt JR, Riazuddin S, Cullen KE, Sotomayor M, Ahmed ZM. Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels. bioRxiv [Preprint]. 2024 Jul 5:2023.05.26.542533. doi: 10.1101/2023.05.26.542533. PMID: 37398045; PMCID: PMC10312449.

Usmani MA, Ghaffar A, Shahzad M, Akram J, Majeed AI, Malik K, Fatima K, Khan AA, Ahmed ZM, Riazuddin S, Riazuddin S. A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred. Genes (Basel). 2024 May 2;15(5):580. doi: 10.3390/genes15050580. PMID: 38790209; PMCID: PMC11121239.

2023

Sisk RA, Miraldi-Utz V, Schwartz TL, Hufnagel RB, Ahmed ZM. Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease. Ophthalmic Surg Lasers Imaging Retina. 2022 Aug;53(8):464-467. doi: 10.3928/23258160-20220706-01. Epub 2022 Aug 1. PMID: 35951720.

Zhen Y, Cullen CL, Ricci R, Summers BS, Rehman S, Ahmed ZM, Foster AY, Emery B, Gasperini R, Young KM. Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways. Commun Biol. 2022 May 30;5(1):511. doi: 10.1038/s42003-022-03470-1. PMID: 35637313; PMCID: PMC9151716.

Zamani GY, Khan R, Karim N, Ahmed ZM, Naeem M. Identification of Frameshift Variants in POLHGene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families. Genes (Basel). 2022 Mar 19;13(3):543. doi: 10.3390/genes13030543. PMID: 35328096; PMCID: PMC8955859.

Saleem IB, Masoud MS, Qasim M, Ali M, Ahmed ZM. Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred. Genes (Basel). 2021 Nov 30;12(12):1940. doi: 10.3390/genes12121940. PMID: 34946889; PMCID: PMC8702217.

Ghaffar A, Rasheed F, Rashid M, van Bokhoven H, Ahmed ZM, Riazuddin S, Riazuddin S*. Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability. European Journal of Human Genetics. 2022; 30(02):243-247. (Corresponding author)

Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM. European Journal of Human Genetics. 2022; 30(01):22-33.

Schrauwen I, Ghaffar A, Bharadwaj T, Shah K, Rehman S, Acharya A, Liaqat K, Lin NS, Everard JL, Khan A, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Syntaxin 4 is essential for hearing in human and zebrafish. Human Molecular Genetics. 2022; Online Ahead of Print

Broly M, Polevoda BV, Awayda KM, Tong N, Lentini J, Besnard T, Deb W, O’Rourke D, Baptista J, Ellard S, Almannai M, Hashem M, Abdulwahab F, Shamseldin H, Al-Tala S, Alkuraya FS, Leon A, van Loon RLE, Ferlini A, Sanchini M, Bigoni S, Ciorba A, van Bokhoven H, Iqbal Z, Al-Maawali A, Al-Murshedi F, Ganesh A, Al-Mamari W, Lim SC, Pais LS, Brown N, Riazuddin S, Bézieau S, Fu D, Isidor B, Cogné B, O’Connell MR.THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. American Journal of Human Genetics. 2022; 109(4):587-600.

Yousaf S, Tariq N, Sajid Z, Sheikh SA, Kausar T, Waryah YM, Shaikh RS, Waryah AM, Sethna S, Riazuddin S, Ahmed ZM. Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families. Genes (Basel). 2022; 13(04):617-628.

2022

Giese APJ, Weng WH, Kindt KS, Chang HHV, Montgomery JS, Ratzan EM, Beirl AJ, Rivera RA, Lotthammer JM, Walujkar S, Foster MP, Zobeiri OA, Holt JR, Riazuddin S, Cullen KE, Sotomayor M, Ahmed ZM. Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels. bioRxiv [Preprint]. 2023 May 30:2023.05.26.542533. doi: 10.1101/2023.05.26.542533. PMID: 37398045; PMCID: PMC10312449.

Riaz S, Sethna S, Duncan T, Naeem MA, Redmond TM, Riazuddin S, Riazuddin S, Carvalho LS, Ahmed ZM. Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F. Mol Ther. 2023 Dec 6;31(12):3490-3501. doi: 10.1016/j.ymthe.2023.10.017. Epub 2023 Oct 20. PMID: 37864333; PMCID: PMC10727994.

Stanley OR, Swaminathan A, Wojahn E, Ahmed ZM, Cullen KE. An Open-Source Tool for Automated Human-Level Circling Behavior Detection. bioRxiv [Preprint]. 2023 May 30:2023.05.30.540066. doi: 10.1101/2023.05.30.540066. PMID: 37398316; PMCID: PMC10312579.

Ishaq R, Ilyas M, Habiba U, Amin MNU, Saeed S, Raja GK, Shaiq PA, Ahmed ZM. Whole Exome Sequencing Reveals Clustering of Variants of Known Vitiligo Genes in Multiplex Consanguineous Pakistani Families. Genes (Basel). 2023 May 22;14(5):1118. doi: 10.3390/genes14051118. PMID: 37239478; PMCID: PMC10218579.

Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. PMID: 36928819; PMCID: PMC10033407.

Aristizábal-Ramírez I, Dragich AK, Giese APJ, Sofia Zuluaga-Osorio K, Watkins J, Davies GK, Hadi SE, Riazuddin S, Vander Kooi CW, Ahmed ZM, Frolenkov GI. Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells. bioRxiv. 2023 Jul 9:2023.07.09.545606.

2021

Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal of Human Genetics. 2021; 108(10):2006-2016.

Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S*. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. American Journal of Human Genetics. 2021; 108(7):1330-1341. (* Corresponding Author)

Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. Genetics in Medicine. 2021; 23(07):1246-1254.

Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM. Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021; 10:e67361

Frank D, Giese APJ, Hafrén L, Roberts TB, Yarza TK, Steritz M, Pedro M, Labra PJ, Daly K, Tantoco Ma.L, Szeremeta W, Reyes-Quintos Ma.R, Llanes EG, Pine H, Yousaf S, Ir D, Lagrana-Villagracia SM, Einarsdottir E, de la Cruz RA, Lee N, Nonato RM, Robertson C, Ong KM, Magno JP, Abbe I, Chiong AN, Espiritu-Chiong MC, Agustin Ma.L, UWCMG, Gloria-Cruz TL, Abes G, Bamshad M, Cutiongco-de la Paz EM, Kere J, Nickerson D, Riazuddin S, Chan A, Mohlke K, Mattila P, Sale M, Leal S, Ahmed Z, Chonmaitree T, Chiong C, Santos-Cortez RL. Otitis media suceptibiity and shift in the head and neck microbiome due to SPINK5 variants. Journal of Medical Genetics. 2021; 58(7):442-452.

Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes. Human Genetics. 2021; 140(4):649-666.

Hassan AY, Yousaf S, Levin MR, Saeedi OJ, Riazuddin S, Alexander JL, Ahmed ZM. Novel Homozygous Missense Variant in GJA3Connexin Domain Causing Congenital Nuclear and Cortical Cataracts. International Journal of Molecular Sciences. 2021; 23(1):240-249.

Sajid Z, Yousaf S, Waryah YM, Mughal TA, Kausar T, Shahzad M, Rao AR, Abbasi AA, Shaikh RS, Waryah AM, Riazuddin S, Ahmed ZM. Genetic Causes of Oculocutaneous Albinism in Pakistani Population. Genes (Basel). 2021; 12(04):492-504.

Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, Nickerson DA, Riazuddin S, Leal SM, Ahmed ZM, Yoon PJ, Kere J, Chan KH, Mattila PS, Friedman NR, Chonmaitree T, Frank DN, Ryan AF, Santos-Cortez RLP. The role of CDHR3 in susceptibility to otitis media. Journal of Molecular Medicine. 2021; 99(11):1571-1583.

Sethna S, Scott PA, Giese APJ, Duncan T, Jian X, Riazuddin S, Randazzo PA, Redmond TM, Bernstein SL, Riazuddin S, Ahmed ZM. CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Nature Communication. 2021; 12(1):3906.

Jarwar P, Sheikh SA, Waryah YM, Ujjan IU, Riazuddin S, Waryah AM, Ahmed ZM. Biallelic Variants in EPHA2Identified in Three Large Inbred Families with Early-Onset Cataract International Journal of Molecular Sciences. 2021; 22(19):10655.

Mahmood U, Bukhari SA, Ali M, Ahmed ZM, Riazuddin S. Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6in Pakistani Families. BioMed Research International. 2021; 5584788

Holt JR, Tobin M, Elferich J, Gouaux E, Ballesteros A, Yan Z, Ahmed ZM, Nicolson T. Putting the Pieces Together: the Hair Cell Transduction Complex. J Assoc Res Otolaryngol. 2021 Dec;22(6):601-608. doi: 10.1007/s10162-021-00808-0. Epub 2021 Oct 6. PMID: 34617206; PMCID: PMC8599550.

2020

Noman M, Bukhari SA, Rehman S, Qasim M, Ali M. Riazuddin S, Ahmed ZM. Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss. Molecular Biology Reports. 2020. 47: 9987-9993

Zafar S, Shahzad M, Ishaq R, Yousaf A, Shaikh RS, Akram J, Ahmed ZM, Riazuddin S. Novel Mutations in CLPP, LARS2, CDH23, and COL4A5Identified in Familial Cases of Prelingual Hearing Loss. Genes (Basel). 2020;11(9):978

Khan SY, Ali M, Lee M, Ma Z, Biswas P, Khan A, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Jejtmancik J, Riazuddin SA. Whole genome sequencing data of multiple individuals of Pakistani descent. Scientific Data. 2020. 7 (1):350

Bootpetch TC, Hafren L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A, UW-CMG, Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel AO, Friedman NR, Frank DN, Einarsottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Multi-omic studies on missense PLG variants in families with otitis media. Scientific Reports; 10:15035

Chua GL, Chin CF, Alsaif H, Artem B, Riazuddin S, Riazuddin S, Manzini MC, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, Connor EO, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya F, Hourden H, Maroofian R, Silver D. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. European Journal of Human Genetics. 2020; 28(11):1509-1519

Booth KT, Ghaffar A, Rashid M, Hovery KT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJH, Ahmed Z, Azaiez H*, Riazuddin S*. Novel Loss-of-function mutation in COCH cause autosomal recessive nonsyndromic deafness. bioRxiv. bioRxiv. 2020; 139(12):1565-1574 (*Co-corresponding author).

Manole A, Mendes MI, Jennings M, Jenkins D, Lopez MR, Efthymiou S, O’Connor E, Maroofian R, Salpietro V, Ahmed J, Usmani MA, Santoni FA, Ranza E, Iwaszkiewicz J, Riazuddin S, Ahmed ZM, Grimme M, Jelsig AM, Hjortshøj TD, Karstensen HG, Haack TB, Distelmaier F, Horvath R, Gleson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De novo and biallelic pathogenic variants in NARS1 cause neurodevelopment delay due to toxic gain-of-function and partial loss-of-function effects. American Journal of Human Genetics. 2020; 107(2):311-324.

Yousaf S, Sethna S, Chaudhary MA, Shaikh RS, Riazuddin S, Ahmed ZM. Molecular characterization of SLC24A5 variants and evaluation of nitisinone treatment efficacy in a zebrafish model of OCA6. Pigment Cell Melanoma Research. 2020: 33(4):556-565.

Giese APJ, Ali S, Isaiah A, Aziz I, Riazuddin S, Ahmed ZM. Genomics of Otitis media (OM): Molecular genetics approaches to characterize disease pathophysiology. Frontiers in Genetics. 2020: 11:313

Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain. 2020: 143(4):e31

2019

Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S*. Delineation of homozygous variants associated with prelingual sensorineural hearing loss in Pakistani families. Genes. 2019; 10(12):1031. (*Corresponding author).

Sheikh SA, Sisk RA, Schiavon CR, Waryah YM, Usmani MA, Steel DH, Sayer JA, Narsani AK, Hufnagel RB, Riazuddin S, Kahn R, Waryah AM, Ahmed ZM. Homozygous variants in ARL3 causes autosomal cone dystrophy. Investigative Ophthalmology & Visual Science. 2019; 60(14):4811-19.

Richard EM, Polla D, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, Akram J, Tarar MN, Blanpied TA, Ahmed ZM, Abou-Jamra R, Wieczorek D, van Bokhoven H, Riazuddin S, Riazuddin S*. Bi-allelic variants in METTL5 cause autosomal recessive intellectual disability and microcephaly. American Journal of Human Genetics. 2020; 105(4):869-878. (*Corresponding author).

Larson E, Magno JP, Steritz M, Llanes EG, Cardwell J, Pedro M, Roberts TB, Rosanes RA, Greenlee C, Santos RA, Streubel S, Santos AT, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TK, Scholes M, Anderson C, Acharya A, UWCMG, Gubbels S, Bamshad M, Cass S, Lee N, Nickerson D, Mohlke K, Prager J, Gloria-Cruz TL, Yoon P, Abes G, Schwartz D, Chan A, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal S, Yang I, Tantoco Ma.L, Riazuddin S, Chan K, Mattila P, Quintos Ma.R, Ahmed ZM, Herman J, Hafren L, Chiong C, Santos-Cortez RL. A2ML1 and otitis media: novel variants, differential expression and relevant pathways. Human Mutation. 2019; 40(8):1156-1171.

Rashid M, Yousaf S, Sheikh SA, Sajid Z, Shabbir AS, Kausar T, Tariq N, Usman M, Shaikh RS, Ali M, Bukhari SA, Waryah AM, Qasim M, Riazuddin S, Ahmed ZM. Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.Molecular Vision. 2019; 25:144-154.

Schrauwen I, Giese APJ, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, UWCMG, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92 underlies non-syndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice. Journal of Bone and Mineral Research. 2019; 34(2):375-386.

Richard EM, Santos-Cortez RLP, Faridi, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Waryah AM, Ansar M, Ahmed ZM, Ahmad W, Riazuddin Sh, Friedman TB, Leal SM, Riazuddin S*. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human Mutation. 2019; 40(1):53-72. (*Corresponding author).

2018

de Brouwer AP, Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, REbelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant J, Bokhoven HV, Schwartz S. Variants in PUS7 cuase intellectual disability with speech delay, microcephaly, short stature, and aggressive behavior. American Journal of Human Genetics. 2018;103(6):1045-1052.

Saeedi O, Yousaf S, Tsai J, Palmer K, Riazuddin S, Ahmed ZM. Delineation of novel compound heterozygous variants in LTBP2 associated with Juvenile open angle glaucoma. Genes. 2018; 9(11). pii: E527.

Santos-Cortez RLP, Chiong CM, Chonmaitree T, Frank DN, Ryan AF, Giese APJ, Roberts TB, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EG, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, Ong KMC, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM, Gubbels SP, Shaikh RS, Cass SP, Cass SP, Einarsdóttir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang VI, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL,Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Quintos MRT, Jenkins HA, d.V. Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Sale MM, Ahmed ZM. FUT2 variants confer susceptibility to familial otitis media. American Journal of Human Genetics. 2018; 103(5):679-690.

Yousaf R, Ahmed ZM, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S*. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness. Journal of Clinical Investigations. 2018; 128(4):1509-1522. (*Corresponding author).

Yousaf R, Gu C, Ahmed ZM, Khan SN, Riazuddin S, Friedman TB, Riazuddin S, Shears SB, Riazuddin S*. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS Genetics. 2018; 14(3):e1007297. (*Corresponding author).

Riazuddin S*, Ansar M*, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer AP, Guipponi M, Haquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, Bokhoven HV, Antonarakis SE. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. Genetics in Medicine. 2018; 20(7):778-784 (*co-first authors).

Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin Sh, Riazuddin S. In-frame deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. Journal of Medical Genetics. 2018; 55(7):479-488.

Yousaf S, Sheikh, S, Riazuddin S, Waryah AM, Ahmed ZM. INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. Clinical Genetics. 2018; 93(3):682-686.

2017

Riazuddin S*, Ivanova EL*, Mau-Them FT*, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Marie-Aude S, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer AP, Razzaq A, Dollfus H, Assir MZ, Nitcheke P, Rivas MH, Ropers H, Riazuddin S, Najmabadi H, Bokhoven HV, Chelly J. Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development. American Journal of Human Genetics. 2017; 101(3):428-440 (*co-first authors).

Giese APJ, Tang YQ, Sinha GP, Bowl MR, Goldring AC, Parker A, Freeman MJ, Brown SDM, Riazuddin S, Fettiplace R, Schafer WR, Frolenkov GI, Ahmed ZM. CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nature Communications. 2017; 8(1):43.

Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, University of Washington Center for Mendelian Genomics, Ali M, Khan MA, Waryah A, Shaikh R, Riazuddin S, Ahmed ZM. Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. Scientific Reports. 2017; 7; 7:44185.

Riazuddin S, Hussain M, de Brouwer AP, Razzaq A, Ahmed ZM, Zahoor MY, Basra AR, Rasheed F, Azhar A, Khan AA, Khan SN, Bokhoven HV*, Riazuddin S*. Exome sequencing identified 30 candidate genes for recessive intellectual disability. Molecular Psychiatry. 2017; 22(11):1604–1614.

2016

Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Human Mutation. 2016; 37(10):991-1003.

Haque K, Pandey AK, Zheng H, Sha S, Riazuddin S, Puligilla C. MEKK4 signaling regulates sensory cell development and function in the mouse inner ear. The Journal of Neuroscience. 2016; 36(4):1347-1361.

Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AMM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wikj E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JBGM, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H. Novel and recurrent CIB2 mutations, associated with non-syndromic deafness, do not affect calcium buffering and localization in hair cells. European Journal of Human Genetics. 2016; 24(4):542-549.

2015

Giese APJ, Guarnaschelli JG, Ward JA, Choo DI, Riazuddin S, Ahmed ZM. Radioprotective effect of Aminothiol PrC-210 on irradiated inner ear of guinea pig. PLoS One. 2015; 10(11): e0143606.

Yousaf S, Shahzad M. Kausar T, Sheikh SA, Tariq N, Shabbir AS, UWCMG, Ali M, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM. Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. Pigment Cell Melanoma Reserach. 2015; 29(2):231-235.

Yousaf R, Meng Q, Hufnagel RB, Xia Y, Puligilla C, Ahmed ZM, Riazuddin S*. MAP3K1 function is essential for cyto-architecture of mouse organ of Corti and survival of auditory hair cells. Disease, Models and Mechanisms. 2015; 8(12):1543-1553. (*Corresponding author).

Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M. Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow B. A novel C-terminal CIB2 mutation associated with non-syndromic hearing loss in a Hispanic family. PLoS One. 2015; 10(10): e0133082.

Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Aim-ud-Din M, UWCMG, Smith JD, Riazuddin S, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Ahmed ZM, Ahmad W, Leal SM. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics. 2015; 134(9):941-950.

Shahzad M, Campos JS, Tariq N, Serrano CH, Yousaf R, Jiménez-Cervantes C, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F, UWCMG, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population. Pigment Cell Melanoma Research. 2015; 28(6):730-735.

Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Allen EK, Smith JD, Li B, Paz EMCL, Garcia MC, Llanes EGDV, Labra PJ, Gloria-Cruz TLI, Chan AL, Wang GT, Daly KA, UWCMG, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Rare A2ML1 variants confer susceptibility to Otitis Media. Nature Genetics. 2015; 47(8):917-920.

Simon M, Richard EM, Wang X, Shahzad M, Haung VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-sheqaih N, Newmnan WG, Abdenur J, Starr A, Hedge R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T Riazuddin S*. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLOS Genetics. 2015; 11(3): e1005097 (*co-corresponding author).

Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D. MARVELD2 (DFNB49) Mutations in the Hearing Impaired Central European Roma Population – Prevalence, Clinical Impact and the Common Origin. PLoS One. 2015; 10(4): e0124232.

Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S*. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human Genetics. 2015; 134:423-427 (*corresponding author).

Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Hinnant J¹, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Challenges and solutions for gene identification in the presence of familial locus European Journal of Human Genetics 2015; 9:1207-1215.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. Journal of Medical Genetics. 2015; 52:85-94.

Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. European Journal of Human Genetics. 2015; 23:473-480.

Ali S, Khan SY, Naeem MA, Khan SN, Husnain T, Riazuddin S, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Phenotypic Variability Associated with the D226N Allele of IMPDH1. Ophthalmology. 2015; 122(2):429-31.

2014

Giese APJ, Guarnaschelli JG, Ward JA, Choo DI, Riazuddin S, Ahmed ZM. Radioprotective effect of Aminothiol PrC-210 on irradiated inner ear of guinea pig. PLoS One. 2015; 10(11): e0143606.

2013

Nayak G, Lee S, Yousaf R, Edlemann S, Trincot C, Van Itallie CM, Sinha G, Rafeeq M, Jones SM, Belyantseva I, Anderson J, Forge A, Frolenkov GI, Riazuddin S*. Tricellulin deficiency affects tight junction architecture and cochlear hair cells. Journal of Clinical Investigation. 2013; 123:4036-49. (*corresponding author). (Commentary in JCI by Professor Avraham and colleagues).

Jaworek TJ, Richard EM, Ivanova AA, Giese APJ, Choo DI, Khan SN, Kahn RA, Riazuddin S*. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. PLOS Genetics. 2013; 9:e1003774. (*corresponding author).

Ahmed ZM, Frolenkov GI, Riazuddin S. Usher proteins in inner ear structure and function. Physiol Genomics. 2013; 45:987-989.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM. Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngology Head Neck Surgery. 2013; 149: 478-487.

2012

Bashir Z, Latief N, Belyantseva IA, Iqbal F, Khan SN, Friedman^,TB, Riazuddin S, Riazuddin S*. Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population. Journal of Human Genetics. 2012; 58:102-108. (*corresponding author).

Riazuddin S, Belyantseva I, Giese A, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM. Alterations of the CIB2 calcium- and integrin-binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nature Genetics. 2012; 44:1265-71. (Featured in Editor’s Choice of Science Journal).

Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM. Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. Orphanet Journal of Rare Diseases. 2012; 7 (1):44.

Jaworek TJ, Bhatti R, Latief N, Khan SN, Riazuddin S, Ahmed ZM. USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. Journal of Human Genetics. 2012; 57:633-637.

Naeem MA, Chavali VRM, Ali Shhbaz, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. GNAT1 associated with autosomal recessive congenital stationary night blindness. Investigative Ophthalmology & Visual Science. 2012; 53:1353-1361.

2011

Ali RA, Rehman AU, Khan S, Husnain T, Riazuddin S, Friedman TB, Ahmed ZM, Riazuddin S*. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16P13.3. Clinical Genetics. 2011; 81:498-00. (*corresponding author).

Iqbal M, Naeem MA, Riazuddin A, Ali S,1 Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik FJ, Riazuddin S. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Archives of Ophthalmology. 2011; 129:1351-1357.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. Journal of Medical Genetics. 2011; 48:767-775.

Waryah AM, Ahmed ZM, Bhinder MA, Choo DI, Sisk RA, Shahzad M, Khan SN, Friedman TB, Riazuddin S, Riazuddin S*. Molecular and clinical studies of X-linked deafness among Pakistani families. Journal of Human Genetics. 2011; 56:534-540 (*corresponding author).

Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Human Genetics. 2011; 130:759-765.

Riazuddin S, Ahmed ZM, Shaukat U, Bhinder MA, Khan SY, Riazuddin S, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Medical Genetics. 2011; 12:21.

Borck G, Rehman AU, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42. American Journal of Human Genetics. 2011; 88: 127-137.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S*. Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness. American Journal of Human Genetics. 2011; 88:19-29. (*corresponding author).

2010

Kitajiri S, Sakamoto T, Goodyear R, Belyantseva I, Stepanyan R, Fujiwara I, Riazuddin S, Bird J, Riazuddin S, Ahmed ZM, Hinshaw J, Hammer J, Bartles J, Sellers J, Richardson G, Frolenkov G, Griffith AJ, Friedman TB. Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell. 2010; 141:786-98.

Rehman AU, Morell RJ, Khan SY, Belyantseva IA, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, Friedman TB. Targeted Capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. American Journal of Human Genetics. 2010; 86:378-388.

Odeh H, Hunker KL, Belyantseva IA, Azaiez H, Avenarius MR, Zheng L, Peters LM, Gagnon LH, Hagiwara N, Skynner MJ, Brilliant MH, Allen ND, Riazuddin S, Johnson KR, Raphael Y, Najmabadi H, Friedman TB, Bartles JR, Smith RJH, Kohrman DC. Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse. American Journal of Human Genetics. 2010; 86:148-160.

Riazuddin S*, Khan SY*, Shahzad M, Ahmed Z, Zafar AU, Griffith AJ, Ahmed ZM, Riazuddin S, Friedman TB. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3. European Journal of Human Genetics. 2010; 18:125-129. *co-first authors.

2009

Wariyah AM, Rehman AU, Ahmed ZM, Bashir ZH, Khan SY, Zafar AU, Riazuddin S, Friedman TB, and Riazuddin S. DFNB74, a new autosomal recessive nonsyndromic hearing impairment locus at chromosome 12q14.2-q15. Clinical Genetics. 2009; 76:270-275.

Riazuddin S, Anwar S, Janssen A, Ahmed ZM, Khan SY, Belyantseva I, Jochen E, Friedman PL, Riazuddin S, Fahlke C, Friedman TB. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. American Journal of Human Genetics. 2009; 85: 273-280.

Schultz JM, Khan SY, Ahmed ZM, Riazuddin S, Chatre D, Ploplis B, Buckley S, Velasquez D, Kabra M, Ghosh M, Wilcox ER, Ahmad W, Leal SM, Merlino G, Riazuddin S, Friedman TB, Morell RJ. Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics. 2009; 85:25-39.

Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Jaleel AU, Khan SY, Griffith AJ, Friedman TB, Riazuddin S. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred’s syndrome in Pakistanis. Journal of Human Genetics. 2009; 54:266-270.

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics. 2009; 75: 237-243.

Ahmed ZM, Riazuddin S, Khan S, Friedman P, Riazuddin S, Friedman TB. USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clinical Genetics. 2009; 75:86-91.

2008

Ahmed ZM, Kjellstrom S, Haywood-Watson II RJL, Bush RA, Hampton LL, Battey JF, Riazuddin S, Forlenkov G, Sieving PA, Friedman TB. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Molecular Vision. 2008; 14: 2227-2236.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Human Genetics. 2008; 124:215-223.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RWJ, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Abdelaziz T, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Çaylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nature Genetics. 2008; 40:1335-1340.

Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35. American Journal of Human Genetics. 2008; 82:125-138.

Riazuddin S, Nazli S, Sadiq R, Yang Yi, Khan SN, Sabir F, Javid FT, Wilcox ER, Boger ET, Seller JR, Ahmed ZM, Riazuddin S, Friedman TB. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Human Mutation. 2008; 29:502-511.

2007

Ain Q, Nazli S, Riazuddin S, Jaleel A, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3. Human Genetics. 2007; 122:445-450.

Khan SY, Riazuddin S, Tariq M, Anwar S, Shabbir MI, Riazuddin SA, Khan SN, Husnain T, Ahmed ZM, Friedman TB, Riazuddin S. Autosomal Recessive Nonsyndromic Deafness Locus DFNB63 at Chromosome 11q13.2-q13.3. Human Genetics. 2007; 120:789-793.

Khan SY*, Ahmed ZM*, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S. Mutations of the RDX gene cause nonsyndromic recessive hearing loss at the DFNB24 locus. Human Mutation. 2007; 28(5):417-423.

Ahmed ZM, Nal N, Erkal E, Alper O, Lüleci G, Dinç O, Chattaraj P, Riazuddin S, Boger E, Kabra M, Ghosh M, Riazuddin S, Morell RJ, Friedman TB. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Human Mutation. 2007; 28(10):1014-1019.

2006

Riazuddin S, Ramzan K, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva I, Forge A, Riazuddin S, Friedman TB. Tricellulin is a Tight Junction Protein Necessary for Hearing. American Journal of Human Genetics. 2006; 79:1040-1051. (This paper was featured in editor’s choice and was awarded the Cotterman’s Award for the best publication of the year 2006).

Ahmed ZM, Goodyear R, Riazuddin S, Lagziel A, , Behra M, Burgess SM, Wilcox ER, Riazuddin S, Griffith AJ, Frolenkov G, Belyantseva I, Richardson G, Friedman TB. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. Journal of Neuroscience. 2006; 26:7022-7034.

Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S and Friedman TB. Mutations in TRIOBP, which encodes a putative cytoskeletal organizing protein, are associated with nonsyndromic recessive deafness. American Journal of Human Genetics. 2006; 78:137-143.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Mutations of human TMHS cause recessively inherited non-syndromic hearing loss. Journal of Medical Genetics. 2006; 43:634-640.

2005 – 2000

Shaikh RS, Ramzan K, Nazli S, Sattar S, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Riazuddin S. A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12. Journal of Medical Genetics. 2005; 138A: 392-395.

Ahmed J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB, Riazuddin S. DFNB48, a new nonsyndromic recessive deafness locus maps to chromosome 15q23-q25.1. Human Genetics. 2005; 116: 407-412.

Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed, ZA, Friedman, TB, Wilcox, ER, Riazuddin S. A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Human Genetics. 2005; 116:17-22.

Ahmed ZM, Li, XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Khillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. BMC Medical Genetics. 2004; 5: 24.

Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF, Riazuddin, S, Wilcox ER, Friedman TB. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. Journal of Medical Genetics. 2004; 41:591-595.

Friedman TB, Schultz JM, Yosef TB, Pryor SP, Lagaziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ. Recent Advances in the Understanding of Syndromic Forms of Hearing Loss. Ear and Hearing. 2003; 24:289-302.

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER. The Molecular Genetics of Usher syndrome. Review article, Clinical Genetics. 2003; 63: 431-444.

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Human Molecular Genetics. 2003; 12:3215-3223.

Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER. Mutations of MYO6 are associated with recessive deafness DFNB37. American Journal of Human Genetics. 2003; 72:1315-1322.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. Origin and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Journal of Medical Genetics. 2003; 40:242-248.

Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S. Distinctive audiometric profiles associated with DFNB21 alleles of TECTA. Journal of Medical Genetics. 2003; 40:360-363.

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJH, Wilcox ER. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. American Journal of Human Genetics. 2002; 71:632-636.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CWRJ, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. American Journal of Human Genetics. 2002; 71:262-275.

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon SN, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Human Genetics. 2002; 110:527-531.

Kurima K, Yang Y, Riazuddin S, Ahmed Z, Naz S, Mo J, Makishima T, Ghosh M, Menon SN, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Hampton LL, Battey JF Jr, Wilcox ER, Friedman TB, and Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nature Genetics. 2002; 30:277-284.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Verma IC, Puthezhath, Menon SN, Smith TN, Lalwani A, Smith ACM, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith Magenis syndrome. Human Genetics. 2001; 109:535-541.

Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER. Mutations of the protocadherin gene PCDH15 cause usher syndrome type 1F. American Journal of Human Genetics. 2001; 69:25-34.

Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. American Journal of Human Genetics. 2001; 68:26-37.

Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva IA, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell. 2001; 104:165-72.

Riazuddin S*, Ben-Yosef T*, Wattenhofer M*, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. Journal of Medical Genetics. 2001; 38:396-400. (*co-first author).

Wilcox ER, Riazuddin S, Riazuddin S. Some deafness-causing mutations can be silenced with the appropriate gene partner. Scientific World Journal. 2000; 1: 202-203.

Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genetics. 2000; 26: 431-434 (featured on cover).