AG Vona

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da’as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H
Nat Commun 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0.

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway
Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y
Cell Death Dis 2024 Mar 20;15(3):229. doi: 10.1038/s41419-024-06606-9.

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
Hum Genet 2024 Mar 9. doi: 10.1007/s00439-024-02649-2. Epub ahead of print.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D
Hum Genomics 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w.

Rethinking non-syndromic hearing loss and its mimics in the genomic era
Vona B
Eur J Hum Genet 2024 Mar 6. doi: 10.1038/s41431-024-01579-x. Epub ahead of print.

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M
bioRxiv [Preprint] 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708.

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Ramzan M, Zafeer MF, Abad C, Guo S, Owrang D, Alper O, Mutlu A, Atik T, Duman D, Bademci G, Vona B, Kalcioglu MT, Walz K, Tekin M
Eur J Hum Genet 2024 Feb 19. doi: 10.1038/s41431-024-01562-6. Epub ahead of print.

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
Mendia C, Peineau T, Zamani M, Felgerolle C, Yahiaoui N, Christophersen N, Papal S, Maudoux A, Maroofian R, Patni P, Nouaille S, Bowl MR, Delmaghani S, Galehdari H, Vona B, Dulon D, Vitry S, El-Amraoui A
Mol Ther 2024 Mar 6;32(3):800-817. doi: 10.1016/j.ymthe.2024.01.021.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C
Brain 2024 Jan 13:awae010. doi: 10.1093/brain/awae010. Online ahead of print.

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Uctepe E, Vona B, Esen FN, Sonmez FM, Smol T, Tümer S, Mancılar H, Geylan Durgun DE, Boute O, Moghbeli M, Ghayoor Karimiani E, Hashemi N, Bakhshoodeh B, Kim HG, Maroofian R, Yesilyurt A
Eur J Hum Genet 2024 Jan;32(1):52-60. doi: 10.1038/s41431-023-01461-2.

Biallelic variants in SLC4A10 encoding the sodium-dependent chloride-bicarbonate exchanger NCBE lead to a neurodevelopmental disorder
Maroofian R, Zamani M, Kaiyrzhanov R, Liebmann L, Ghayoor Karimiani E, Vona B, Huebner AK, Calame DG, Misra VK, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Beiraghi Toosi M, Akhondian J, Babaei M, Hashemi N, Schnur RE, Suri M, Setzke J, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Galehdari H, Severino M, Houlden H, Hübner CA
Genet Med 2024 Mar;26(3):101034. doi: 10.1016/j.gim.2023.101034.

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing
Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T. Protein Cell. 2023 Dec 8:pwad058. doi: 10.1093/procel/pwad058. Online ahead of print.
Cell 2023 Dec 8:pwad058. doi: 10.1093/procel/pwad058. Online ahead of print.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK
Genome Med 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R
Brain 2023 Nov 10:awad380. doi: 10.1093/brain/awad380. Epub ahead of print.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC
Genome Med 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0.

PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Redfield SE, De-la-Torre P, Zamani M, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B
medRxiv [Preprint] 2023 Oct 9:2023.10.08.23296081. doi: 10.1101/2023.10.08.23296081.

FGFR1 variants contributed to families with tooth agenesis
Yao S, Zhou X, Gu M, Zhang C, Bartsch O, Vona B, Fan L, Ma L, Pan Y
Hum Genomics 2023 Oct 13;17(1):93. doi: 10.1186/s40246-023-00539-8.

mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat
Engert J, Doll J, Vona B, Ehret Kasemo T, Spahn B, Hagen R, Rak K, Voelker J
Life (Basel) 2023 Sep 2;13(9):1858. doi: 10.3390/life13091858.

Unraveling haplotype errors in the DFNA33 locus
Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG
Front Genet 2023 Aug 21;14:1214736. doi: 10.3389/fgene.2023.1214736.

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z
Genes (Basel). 2023 Jul 6;14(7):1404. doi: 10.3390/genes14071404.

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Fehr S, Biskup S, Haack TB, Stöbe P, Heyd A, Harre J, Lesinski-Schiedat A, Büchner A, Lenarz T, Warnecke A, Müller M, Vona B, Dahlhoff E, Löwenheim H, Holderried M
Ear Hear. 2023 Nov-Dec;44(6):1464-1484. doi: 10.1097/AUD.0000000000001386.

An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
Vona B
Eur J Hum Genet 2023 Apr;31(4):375-376. doi: 10.1038/s41431-023-01285-0

Not to miss: Intronic variants, treatment, and review of the phenotypic spectrum in VPS13D-related disorder
Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K
Int J Mol Sci 2023 23(3):1874. doi.org/10.3390/ijms24031874

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case
Yao S, Zhou X, Vona B, Fan L, Zhang C, Li D, Yuan H, Du Y, Ma L, Pan Y
Int J Mol Sci 2022 Sep 14;23(18):10673. doi: 10.3390/ijms231810673.

GGPS1-associated muscular dystrophy with and without hearing loss
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R.
Ann Clin Transl Neurol. 2022 Sep;9(9):1465-1474. doi: 10.1002/acn3.51633.

Is there an unmet medical need for improved hearing restoration?
Wolf BJ, Kusch K, Hunniford V, Vona B, Kühler R, Keppeler D, Strenzke N, Moser T.
EMBO Mol Med. 2022 Aug 8;14(8):e15798. doi: 10.15252/emmm.202215798.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK.
Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435.

Whole genome sequencing for newborns –The devil is in the details.
Vona B.
Clin Transl Med. 2022 2:e102. doi: 10.1002/ctd2.102.

WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B.
Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL.
Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123.

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
Trpchevska N, Freidin MB, Broer L, Oosterloo BC, Yao S, Zhou Y, Vona B, Bishop C, Bizaki-Vallaskangas A, Canlon B, Castellana F, Chasman DI, Cherny S, Christensen K, Concas MP, Correa A, Elkon R; Estonian Biobank Research Team, Mengel-From J, Gao Y, Giersch ABS, Girotto G, Gudjonsson A, Gudnason V, Heard-Costa NL, Hertzano R, Hjelmborg JVB, Hjerling-Leffler J, Hoffman HJ, Kaprio J, Kettunen J, Krebs K, Kähler AK, Lallemend F, Launer LJ, Lee IM, Leonard H, Li CM, Lowenheim H, Magnusson PKE, van Meurs J, Milani L, Morton CC, Mäkitie A, Nalls MA, Nardone GG, Nygaard M, Palviainen T, Pratt S, Quaranta N, Rämö J, Saarentaus E, Sardone R, Satizabal Barrera CL, Schweinfurth JM, Seshadri S, Shiroma E, Shulman E, Simonsick E, Spankovich C, Tropitzsch A, Lauschke VM, Sullivan PF, Goedegebure A, Cederroth CR, Williams FMK, Nagtegaal AP.
Am J Hum Genet. 2022 Jun 2;109(6):1077-1091. doi: 10.1016/j.ajhg.2022.04.010.

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
Vona B, Schwartzbaum DA, Rodriguez AA, Lewis SS, Toosi MB, Radhakrishnan P, Bozan N, Akın R, Doosti M, Manju R, Duman D, Sineni CJ, Nampoothiri S, Karimiani EG, Houlden H, Bademci G, Tekin M, Girisha KM, Maroofian R, Douzgou S.
J Eur Acad Dermatol Venereol. Sep;36(9):1606-1611. doi: 10.1111/jdv.18207.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Hiz Kurul S, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H.
Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
Pater JA, Penney C, O’Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL.
Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
Orphanet J Rare Dis. 2022 Mar 3;17(1):97. doi: 10.1186/s13023-022-02244-6.

The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus
Vona B.
Mol Diagn Ther. 2022 Mar;26(2):129-136. doi: 10.1007/s40291-022-00578-2.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M.
Ear Hear. 2022 May/Jun 2022;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159.

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment
Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F**, Vona B**, Haaf T**.
Hum Genet. 2022 Apr;141(3-4):785-803. doi: 10.1007/s00439-021-02303-1.**Co-last

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH.
Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003

A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
Kaiyrzhanov R, Zaki MS, Maroofian R, Dominik N, Rad A, Vona B, Houlden H.
Mov Disord Clin Pract. 2021 Jul 31;8(7):1140-1143. doi: 10.1002/mdc3.13310.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
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.
Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G.
Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernández HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A; Genomics England Research Consortium, Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Fowler B, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK.
Genet Med. 2021 Oct;23(10):1933-1943. doi: 10.1038/s41436-021-01239-1.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M.
Am J Hum Genet. 2021 Jun 3;108(6):1126-1137. doi: 10.1016/j.ajhg.2021.04.020.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H.
Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z.

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H.
Epilepsia. 2021 Feb;62(2):e35-e41. doi: 10.1111/epi.16801.

Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine
Sokolova TN, Breder VV, Shumskaya IS, Suspitsin EN, Aleksakhina SN, Yanus GA, Tiurin VI, Ivantsov AO, Vona B, Raskin GA, Gamajunov SV, Imyanitov EN.
Hered Cancer Clin Pract. 2021 Jan 6;19(1):2. doi: 10.1186/s13053-020-00157-8.

Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway
Peixoto Pinheiro B, Vona B, Löwenheim H, Rüttiger L, Knipper M, Adel Y.
Pflugers Arch. 2021 May;473(5):823-840. doi: 10.1007/s00424-020-02496-w.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M.
Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015.

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
Rad A, Schade-Mann T, Gamerdinger P, Yanus GA, Schulte B, Müller M, Imyanitov EN, Biskup S, Löwenheim H, Tropitzsch A, Vona B.
Hum Mutat. 2021 Jan;42(1):25-30. doi: 10.1002/humu.24136.

Radixin modulates the function of outer hair cell stereocilia
Prasad S, Vona B, Diñeiro M, Costales M, González-Aguado R, Fontalba A, Diego-Pérez C, Subasioglu A, Bademci G, Tekin M, Cabanillas R, Cadiñanos J, Fridberger A.
Commun Biol. 2020 Dec 23;3(1):792. doi: 10.1038/s42003-020-01506-y.

The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
Vona B, Rad A, Reisinger E.
Genes (Basel). 2020 Nov 26;11(12):1411. doi: 10.3390/genes11121411.

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T.
Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329.

Hereditary auditory disorders
Vona B, Haaf T.
Med Genetik. 2020 32(2):107-108.

Non-syndromic hearing loss: clinical and diagnostic challenges
Vona B, Doll J, Hofrichter MA, Haaf T.
Med Genetik. 2020 32(2):117-129.

The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study
Sabbaghi H, Daftarian N, Suri F, Mirrahimi M, Madani S, Sheikhtaheri A, Khorrami F, Saviz P, Zarei Nejad M, Tivay A, Shahriari HA, Maleki A, Ahmadi SS, Sargazi M, Cremers FPM, Najafi M, Vona B, Haaf T, Bahena-Carbajal P, Moghadasi A, Naraghi H, Yaseri M, Kheiri B, Kalantarion M, Sabbaghi E, Salami M, Pazooki L, Zendedel K, Mojarrab S, Ahmadieh H.
Arch Iran Med. 2020 Jul 1;23(7):445-454. doi: 10.34172/aim.2020.41.

A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family
Doll J, Hofrichter MAH, Bahena P, Heihoff A, Segebarth D, Müller T, Dittrich M, Haaf T, Vona B.
Mol Genet Genomic Med. 2020 Aug;8(8):e1343. doi: 10.1002/mgg3.1343.

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
Lekszas C, Foresti O, Raote I, Liedtke D, König EM, Nanda I, Vona B, De Coster P, Cauwels R, Malhotra V, Haaf T.
Elife. 2020 Feb 26;9:e51319. doi: 10.7554/eLife.51319.

Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
Vona B, Doll J, Hofrichter MAH, Haaf T, Varshney GK.
Hear Res. 2020 Nov;397:107906. doi: 10.1016/j.heares.2020.107906.

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
Doll J, Kolb S, Schnapp L, Rad A, Rüschendorf F, Khan I, Adli A, Hasanzadeh A, Liedtke D, Knaup S, Hofrichter MA, Müller T, Dittrich M, Kong IK, Kim HG, Haaf T, Vona B.
Int J Mol Sci. 2020 Jan 2;21(1):311. doi: 10.3390/ijms21010311.

Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss
Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B.
Eur J Med Genet. 2019 Oct;62(10):103724. doi: 10.1016/j.ejmg.2019.103724.

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report
Lekszas C, Nanda I, Vona B, Böck J, Ashrafzadeh F, Donyadideh N, Ebrahimzadeh F, Ahangari N, Maroofian R, Karimiani EG, Haaf T.
BMC Med Genomics. 2019 Jun 7;12(1):83. doi: 10.1186/s12920-019-0539-y.

A Big Data Perspective on the Genomics of Hearing Loss
Vona B, Müller M, Dofek S, Holderried M, Löwenheim H, Tropitzsch A.
Laryngorhinootologie. 2019 Mar;98(S 01):S32-S81. doi: 10.1055/a-0803-6149.

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y.
Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032.

Heritability and Tinnitus
Vona B.
JAMA Otolaryngol Head Neck Surg. 2019 Mar 1;145(3):229-230. doi: 10.1001/jamaoto.2018.3946.

Phenotypic Characterization of DFNB16-associated Hearing Loss/b>
Back D, Shehata-Dieler W, Vona B, Hofrichter MAH, Schroeder J, Haaf T, Rahne T, Hagen R, Schraven SP.
Otol Neurotol. 2019 Jan;40(1):e48-e55. doi: 10.1097/MAO.0000000000002059.

Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research
Szczepek AJ, Frejo L, Vona B, Trpchevska N, Cederroth CR, Caria H, Lopez-Escamez JA.
Ear Hear. 2019 Mar/Apr;40(2):219-226. doi: 10.1097/AUD.0000000000000614.

Expanding the clinical phenotype of IARS2-related mitochondrial disease
Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG.
BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M.
Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7.

Hereditary hearing loss SNP-microarray pilot study
Vona B, Hofrichter MAH, Schröder J, Shehata-Dieler W, Nanda I, Haaf T.
BMC Res Notes. 2018 Jun 14;11(1):391. doi: 10.1186/s13104-018-3466-7.

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family
Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B.
BMC Med Genet. 2018 May 18;19(1):81. doi: 10.1186/s12881-018-0598-5.

Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.
Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
Tranebjærg L, Strenzke N, Lindholm S, Rendtorff ND, Poulsen H, Khandelia H, Kopec W, Lyngbye TJB, Hamel C, Delettre C, Bocquet B, Bille M, Owen HH, Bek T, Jensen H, Østergaard K, Möller C, Luxon L, Carr L, Wilson L, Rajput K, Sirimanna T, Harrop-Griffiths K, Rahman S, Vona B, Doll J, Haaf T, Bartsch O, Rosewich H, Moser T, Bitner-Glindzicz M.
Hum Genet. 2018 Feb;137(2):111-127. doi: 10.1007/s00439-017-1862-z.

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family
Vona B, Maroofian R, Mendiratta G, Croken M, Peng S, Ye X, Rezazadeh J, Bahena P, Lekszas C, Haaf T, Edelmann L, Shi L.
Mol Syndromol. 2017 Dec;9(1):5-14. doi: 10.1159/000480458.

Genetics of Tinnitus: Still in its Infancy
Vona B, Nanda I, Shehata-Dieler W, Haaf T.
Front Neurosci. 2017 May 8;11:236. doi: 10.3389/fnins.2017.00236. eCollection 2017

Genetics of Deafness
Vona B and Haaf T.
Karger Publishers AG, Basel. Series: Monogr Hum Genet. 2016 Vol 20, ISBN: 978-3-318-05855-0

Genetic elucidation of nonsyndromic hearing loss in the high-throughput sequencing era
Vona B, Hofrichter MAH, Chioza BA, Crosby AH, Nanda I, Haaf T.
Monogr Hum Genet. Vol 20, 2016 pp.56-72.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene
Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O.
Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278.

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment
Hofrichter MA, Nanda I, Gräf J, Schröder J, Shehata-Dieler W, Vona B, Haaf T.
Mol Syndromol. 2015 Oct;6(4):156-63. doi: 10.1159/000439576.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T.
Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332.

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
Vona B, Nanda I, Hofrichter MA, Shehata-Dieler W, Haaf T.
Mol Cell Probes. 2015 Oct;29(5):260-70. doi: 10.1016/j.mcp.2015.03.008.

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature
Vona B, Nanda I, Neuner C, Schröder J, Kalscheuer VM, Shehata-Dieler W, Haaf T.
BMC Med Genet. 2014 Jun 25;15:72. doi: 10.1186/1471-2350-15-72.

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T.
Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65.

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss
Vona B, Neuner C, El Hajj N, Schneider E, Farcas R, Beyer V, Zechner U, Keilmann A, Poot M, Bartsch O, Nanda I, Haaf T.
Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443.

Confirmation of GRHL2 as the gene for the DFNA28 locus
Vona B, Nanda I, Neuner C, Müller T, Haaf T.
Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017.