Genome Sequencing, Exome Sequencing and Gene Panel Sequencing, RNA Sequencing, and Custom Sequencing Provided by Otogenetics Empower Researchers, Clinicians, and Educators in Discovery, Diagnosis, and Education

Otogenetics in Research and Discovery, Clinical Genetic Diagnosis, and Medical Education:

Bousfiha A, Bakhchane A, Charoute H, Detsouli M, Rouba H, Charif M, Lenaers G, Barakat A. (2017) Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Molecular Biology Reports. DOI:

Wee J, Hong S-Y, Roze LV, Day, DM, Chanda A, Linz JE. (2017) The Fungal bZIP Transcription Factor AtfB Controls Virulence-Associated Processes in Aspergillus parasiticus. Toxins 9, 287. doi:10.3390/toxins9090287

Yang G, Hamadeh I, Katz J, Riva A, Lakatos P, Balla B, Kosa J, VaszilKo M, Pelliccioni GA, Davis N, Langaee TY, Moreb JS, Gong Y.  (2017) SIRT1/HERC4 locus associated with Bisphosphonate-induced osteonecrosis of the jaw: an exome-wide association analysis. JBMR. doi: [10.1002/jbmr.3285]

Nathan S, Ma Y, Tomita YA, Oliveira ED, Brown ML, Rosen EM. (2017) BRCA1-mimetic compound NSC35446.HCL inhibits IKKBexpression by reducing estrogen receptor-a occupancy in the IKKB promoter and inhibits NF-kB activity in antiestrogen resistant human breast cancer cells. Breast Cancer Research and Treatmentdoi:10.1007/s10549-017-4442-y

Ain N u, Makitie O, Naz S. (2017) Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. Journal of Medical Genetics

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T. (2017) Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. Journal of Medical Genetics.

Su Y, Shen X, Chen J, Isales C.M., Zhao J, Shi X-M. (2017) Differentially expressed genes in PPARg-deficient MSCs. Molecular and Cellular Endocrinology. Available online 31 July 2017. 

Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G. (2017) Homozygous mutations in PJVK and MYO15A genes associated with nonsyndromic hearing loss in Moroccan families. International Journal of Pediatric Otorhinolaryngology  DOI:

Nel M, Dashti MJS, Gamieldien J, Heckmann JM. (2017) Exome sequencing identifies targets in the treatment-resistant phathalmoplegic subphenotype of Myasthenia Gravis. Neuromuscular Disorders. Available online June 21, 2017.

Petropoulou E, Soltani M, Firoozabadi AD, Namayandeh SM, Crockford J, Maroofian R, Jamshidi Y. (2017) Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. European Journal of Medical Genetics, Available online 19 June 2017.

Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J. (2017) Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. European Journal of Medical Genetics. online June 8, 2017.

Pei, S, Slinger, BL, Meyer MM (2017) Recognizing RNA structural motifs in HT-SELEX data for ribosomal protein S15BMC Bioinformatics18:298. DOI: 10.1186/s12859-017-1704-y

Harlander S, Schonenberger D, Toussaint NC, Prummer M, Catalano A, Brandt L, Moch H, Wild PJ, Frew IJ. (2017) Combined mutation in Vhl, Trp53 and Rb1 causes clear cell renal cell carcinoma in mice. Nature Medicine,  Published online May 29, 2017, doi:10.1038/nm.4343

Bakhchane A, Charif M,Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A. (2017) Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PLoS One, Published: May 4, 2017.

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes J, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, T Schaeverbeke, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S, the FREX consortium, Boileau C, Crestani B, Dieudé P. (2017) Shared Genetic Predisposition in Rheumatoid Arthritis–Interstitial Lung Disease and Familial Pulmonary Fibrosis. Eur Respir J. in press

The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of SLC26A4 Anion Exchanger. 2017. Editors: Silvia Dossena and Markus Paulmichl. ISBN: 978-3-319-43285-4 (Print); 978-3-319-43287-8 (Online)

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, et al. (2017) Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PLoS ONE 12(3): e0169687. 

Kim BJ, Kim AR, Han JH, Lee C, Oh DY, Choi BY. (2017) Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant non-syndromic hearing loss.  J Gene Med. doi: 10.1002/jgm.2950.

Feng W, Minor D, Liu M, Li J, Ishaq S, Yeoman C, Lei B. (2017) Null Mutations of Group A Streptococcus Orphan Kinase RocA: Selection in Mouse Infection and Comparison with CovS Mutations in Alteration of In Vitro and In Vivo Protease SpeB Expression and Virulence. Infection and Immunity  85 (1):  e00790-16

Jamshidi NMargolis DJRaman SHuang JReiter REKuo MD. (2017) Multiregional Radiogenomic Assessment of Prostate Microenvironments with multiparametric MR Imaging and DNA Whole-exome Sequencing of Prostate Glands with Adenocarcinoma. Radiology. 2017 Apr 28:162827. doi: 10.1148/radiol.2017162827. [Epub ahead of print]

Amin SV, Roberts JT, Patterson DG, Coley AB, Allred JA, Denner JM, Johnson JP, Mullen GE, O'Neal TK, Smith JT, Cardin SE, Carr HT, Carr SL, Cowart HE, DaCosta DH, Herring BR, King VM, Polska CJ, Ward EE, Wise AA, McAllister KN, Chevalier D, Spector MP & Borchert GM. (2016) Novel small RNA (sRNA) landscape of the starvation-stress response transcriptome of Salmonella enterica serovar typhimurium. RNA Biology 13 (3): 331-342.   

Gerhard, GS, Paynton B, Popoff SN. (2016) Integrating Cadaver Exome Sequencing Into a First-Year Medical Student Curriculum. JAMA 315(6):555-556. 

Crea F, Quagliata L, Michael A, Liu HH, Frumento P, Azad AA, Xue H, Pikor L, Watahiki A, Morant R, Eppenberger-Castori S, Wang Y, Parolia A, Lennox KA, Lam WL, Gleave M, Chi KN, Pandha H, Wang Y, Helgason CD. (2016) Integrated analysis of the prostate cancer small-nucleolar transcriptome reveals SNORA55 as a driver of prostate cancer progression. Mol Oncol. 10(5):693-703. 

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. (2016) Usher syndrome in Denmark: mutation spectrum and some clinical observations. Mol Genet Genomic Med. 4(5):527-539. 

Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. (2015) Partial USH2A deletions contribute to Usher syndrome in Denmark. Eur J Hum Genet 23, 1646–1651.

Yuan Y, Gao X, Huang B, Lu J, Wang G, Lin X, Qu Y, Dai P. (2016) Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. BMC Genet. 17:33. doi: 10.1186/s12863-016-0333-1.

Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. (2016) Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. Hum Mol Genet 25 (10): 1923-1933. doi: 10.1093/hmg/ddw065

Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. (2016) Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention. J Gene Med. 18(11-12):353-358. doi: 10.1002/jgm.2935

Yin-Hung Lin, Chen-Chi Wu, Tun-Yen Hsu, Wei-Yih Chiu, Chuan-Jen Hsu, Pei-Lung Chen. (2015) Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 771, Pages 1-5, ISSN 0027-5107.

Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E. (2015) Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degenerationJournal of Medical Genetics 52:484-492

Kim BJ, Kim AR, Park G, Park WY, Chang SO, Oh SH, Choi BY. (2015) Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene ScreeningOtol Neurotol. 36(6):1096-102. doi: 10.1097/MAO.0000000000000747.

Gao X, Huang SS, Yuan YY, Wang GJ, Xu JC, Ji YB, Han MY, Yu F, Kang DY, Lin X, Dai P. (2015) Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. Am J Med Genet A. 167A(10):2357-65. doi: 10.1002/ajmg.a.37206.

Mayle A, Yang L, Rodriguez B, Zhou T, Chang E, Curry CV, Challen GA, Wei L, Wheeler D, Rebel VI, Goodell MA. (2015) Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation. Blood 125:629-638

Healy AR, Houston DR, Remnant L, Huart AS, Brychtova V, Maslon MM, Meers O, Muller P, Krejci A, Blackburn EA, Vojtesek B, Hernychova L, Walkinshaw MD, Westwood NJ, Hupp T. (2015) Discovery of a novel ligand that modulates the protein–protein interactions of the AAA+ superfamily oncoprotein reptin. Chem. Sci6, 3109-3116

Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B (2015). Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis. European Respiratory Journal 46 (2) 474-485

Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li H. (2015) Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clin Genet. 87(6):588-93. doi: 10.1111/cge.12431.

Ibarrola‐Villava M, Kumar R, Nagore E, Benfodda M, Guedj M, Gazal S, Hu HH, Guan J, Rachkonda PS, Descamps V, Basset‐Seguin N. (2015) Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition. International Journal of Cancer.136(9):2109-19.

Paran CW, Verkerke ARP, Heden TD, Park S, Zou K, Lawson HA, Song H, Turk J, Houmard JA, Funai K. (2015). Reduced efficiency of sarcolipin-dependent respiration in myocytes from humans with severe obesity. Obesity 23(7), 1440–1449.

Wang H, Lai Y, Mathis BJ, Wang W, Li S, Qu C, Li B, Shao L, Song H, Janicki JS, Sun SC, Wang XL, Tang D, Cui T. (2015) Deubiquitinating enzyme CYLD mediates pressure overload-induced cardiac maladaptive remodeling and dysfunction via downregulating Nrf2. J Mol Cell Cardio. 84:143-53. 

Rahman A, Nahar N, Nawani NN, Jass J, Ghosh S, Olsson B, & Mandal A. (2015). Data in support of the comparative genome analysis of Lysinibacillus B1-CDA, a bacterium that accumulates arsenics. Data in Brief, 5, 579–585.

Read T, Petit R, Joseph S, Alam T, Weil R, Ahmad M, Bhimani R, Vuong J, Haase C, Webb H, Dove A (2015) Draft sequencing and assembly of the genome of the world's largest fish, the whale shark: Rhincodon typus Smith 1828

Ji H, Lu J, Wang J, Li H, Lin X. (2014) Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafnessBMC Ear Nose Throat Disord. 14:9. doi: 10.1186/1472-6815-14-9.

Gao X, Wang GJ, Yuan YY, Xin F, Han MY, Lu JQ, Zhao H, Yu F, Xu JC, Zhang MG, Dong J, Lin X, Dai P. (2014) Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. PLoS One. 9(7):e103415. doi: 10.1371/journal.pone.0103415.

Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P. (2014) De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. Cell Res. 24(11):1370-3. doi: 10.1038/cr.2014.77.

Oksenberg N, Haliburton GDE, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, and Ahituv N (2014). Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Translational Psychiatry 4, e431; doi:10.1038/tp.2014.78

Cruz-Jaramillo JL, Ruiz-Medrano R, Rojas-Morales L, Lopez-Buenfil JA, Morales-Galvan O, Chavarin-Palacio C, Ramirez-Pool JA, Xoconostle-Cazares B. (2014) Characterization of a Proposed Dichorhavirus Associated withthe Citrus Leprosis Disease and Analysis of the Host Response. Viruses, 6(7), 2602-2622

Chan F, Oatley MJ, Kaucher AV, Yang QE, Bieberich CJ, Shashikant CS, and Oatley JM. (2014) Functional and molecular features of the Id4+ germline stem cell population in mouse testes. Genes & Dev. 28: 1351-1362

Crea F, Watahiki A, Quagliata L, Xue H, Pikor L, Parolia A, Wang Y, Lin D, Lam WL, Farrar WL, Isogai T, Morant R, Castori-Eppenberger S, Chi KN, Wang Y, Helgason CD.(2014) Identification of a long non-coding RNA as a novel biomarker and potential therapeutic target for metastatic prostate cancer. Oncotarget. 5(3):764-74.

Behar DM, Davidov B, Brownstein Z, Ben-Yosef T, Avraham KB, & Shohat M. (2014). The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry. Genetic Testing and Molecular Biomarkers, 18(2), 123–126.

Vona B, Muller T, Nanda I, Neuner C, Hofrichter M, Schroder J, Bartsch O, Labig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. (2014) Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. Genetics in Medicine 16, 945–953

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 (2014). Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss. Mol Syndromol 5(1), 3–10. 

Kunisaki Y, Bruns I, Scheiermann C, Ahmed J, Pinho S., Zhang D, Mizoguchi T, Wei Q, Lucas D, Ito K, Mar JC, Bergman A, Frenette PS. (2013) Arteriolar niches maintain haimatopoietic stem cell quiescence. Nature 502, 637-643.

Vona B, Nanda I, Neuner C, Müller T, Haaf T (2013) Confirmation of GRHL2 as the gene for the DFNA28 locus. American Journal of Medical Genetics Part A. 161A, 2060-5.

Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzinska M, Frei KP, Troung DD, Wszolek ZK, LeDoux MS. (2013) Role of Gα(olf) in familial and sporadic adult-onset primarydystonia. Hum. Mol. Genet. 22(12):2510-9.

Sarig O., Goldsher D., Nousbeck J., Fuchs-Telem D., Cohen-Katsenelson K., Iancu T.C., Manov I., Saada A., Sprecher E., Mandel H. (2013) Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome) caused by novel mutations in SERAC1. American Journal of Medicine Genetics Part A 161(9), 2204–2215.

Hu Y., Chen I.P., de Almeida S., Tiziani V., Do Amaral C.M.R., et al. (2013) A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia. PLOS ONE 8(8), e73576. 

Matsuura T, Kurosaki T, Omote Y, Narihiro M, Hayashi YK, Nishino I, and Abe K (2013) Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. Journal of Human Genetics 58, 564-565.

Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, and Ben-Yosef T. (2013) Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa. Molecular Vision Biology and Genetics in Vision Research 19, 1565–1571.

Helmer RA, Martínez-Zaguilán R, Dertien JS, Fulford C, Foreman O, Peiris V, Chilton BS (2013) Helicase-like transcription factor (hltf) regulates g2/m transition, wt1/gata4/hif-1a cardiac transcription networks, and collagen biogenesis. PLoS One. 8(11), e80461.

Helmer RA, Foreman O, Dertien JS, Panchoo M, Bhakta SM, Chilton BS (2013) Role of Helicase-Like Transcription Factor (Hltf) in the G2/M Transition and Apoptosis in Brain. PLOS One. 8(6), e66799.

Tesorero R.A., Yu N., Wright J.O., Svencionis J.P., Cheng Q., et al. (2013) Novel Regulatory Small RNAs in Streptococcus pyogenes. PLOS ONE 8(6), e64021.

Campello L. and Martín-Nieto J. (2013) RNA-Seq expression profile of genes related to neurodegenerative disorders affecting the human retina. EMBnet. journal 19 (Suppl. A), 40-41.

Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, et al. (2013) Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F. PLOS ONE 8(5), e63536.

Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, and Robertson S. (2013) Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery–Dreifuss muscular dystrophy plus phenotype. Neurogenetics 14(2), 113-121.

Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, and Mighell AJ. (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics. 22(1):132-5.

Janicki P.K., Vaida S., Hamid A., Al-Mondhiry B. (2013) Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency. Case Reports in Genetics, 941684-941690.

Nichols, A.C., Chan-Seng-Yue M., Yoo J., et al. (2013) A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases. Case Reports in Oncological Medicine, 270362-270368.

Wu CC, Lin YH, Lu YC, Chen PJ, Yang WS, et al. (2013) Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment. PLOS ONE 8(2), e57369.

Linden Phillips L., Bitner-Glindzicz M., Lench N., Steel K.P., Langford C., Dawson S.J., Davis A., and Simpson S. (2013) The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss. International Journal of Audiology 52(2), 124-133.

Volodarsky M., Markus B., Cohen I., Staretz-Chacham O., Flusser H., Landau D., Shelef I., Langer Y., Birk OS. (2013) A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta. Human Mutation. 34, 582-6.

Card C, Anderson EJ, Zamberlan S, Krieger KB, Kaproth M, Sartini BL. (2013) Cryopreserved Bovine Spermatozoal Transcript Profile as Revealed by High-Throughput Ribonucleic Acid Sequencing. Biology of Reproduction. 88, 49.

Sun N, Fonzi W, Chen H, She X, Zhang L, Zhang L, Calderone R. (2013) Azole Susceptibility and Transcriptome Profiling in Candida albicans Mitochondrial Electron Transport Chain Complex I Mutants. Antimicrobial Agents and Chemotherapy. 57(1), 532-42.

Moscovich M, LeDoux MS, Xiao J, Rampon GL, Vemula SR, Rodriguez RL, Foote KD, Okun MS. (2013) Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC medical genetics. 14(1):70.

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, and Birk OS. (2012) Autosomal Recessive Lethal Congenital Contractural Syndrome Type 4 (LCCS4) Caused by a Mutation in MYBPC1. Human Mutation. 33, 1435-8.

Khateb S., Zelinger L., Ben-Yosef T., Merin S., Crystal-Shalit O., Gross M., Banin E., Sharon D. (2012) Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss. PLoS One. 7(12), e51566.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. (2012) A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System. The American Journal of Human Genetics. 91, 202-208

Visconte V, Rogers HJ, Singh J, Barnard J, Bupathi M, Traina F, McMahon J, Makishima H, Szpurka H, Jankowska A, Jerez A, Sekeres MA, Saunthararajah Y, Advani AS, Copelan E, Koseki H, Isono K, Padgett RA, Osman S, Koide K, O'Keefe C, Maciejewski JP, and Tiu RV, (2012) SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 120(16), 3173-3186.

Makishima H, Visconte V, Sakaguchi H, Jankowska AM, Abu Kar S, Jerez A, Przychodzen B, Bupathi M, Guinta K, Afable MG, Sekeres MA, Padgett RA, Tiu RV, Maciejewski JP. (2012) Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 119, 3203-3210 (Otogenetics Corporation performed both exome sequencing and RNA-seq for the study)

Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, and Sanchez-Herranz A. (2012) Autosomal recessive emery–dreifuss muscular dystrophy caused by a novel mutation (r225q) in the lamin a/c gene identified by exome sequencing. Muscle Nerve. 45, 605–610 

Yu, M., Hon, G.C., Szulwach, K.E., Song, C.X., Zhang, L., Kim, A., Li, X., Dai, Q., Shen, Y., Park, B., Min, J.H., Jin, P. *, Ren, B., and He. C. (2012) Base-Resolution Analysis of 5-Hydroxymethylcytosine in the Mammalian Genome. Cell. 149, 1368-80. 

Tang W, Qian D, Ahmad S, Mattox D, Wendell Todd N, Han H, Huang S, Li Y, Wang Y, Li H, and Lin X. (2012) A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach. Genetic Testing and Molecular Biomarkers. 16, 536-42. 

Lin X, Tang W, Ahmad S, Lu J, Colby CC, Zhu J, Yu Q. (2012) Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hearing Research. 288, 67-76.

Maher B. (2011) Nature Readers flirt with personal genomics. Nature 478, 19