In 2007, the Next Generation Sequencing (NGS) Technology was at the crest of realizing high throughput and prevision genetic testing for multigene and complex genetic diseases. Two professors from Emory University School of Medicine founded Otogenetics with support from National Institute of Health (NIH) to develop and provide the most advanced genetic testing to the research institutions and clinical care providers.

Otogenetics began offering NGS as a service to the commercial market in 2011 and launched its first clinical genetic test in the same year; – sequencing more than 100 genes associated with Syndromic and Non-Syndromic Hearing Loss. Since, the company has served both renowned Academic and Research Institutions and Clinical Diagnostic Laboratories in more than 30 countries. Our US customers include National Institute of Health (NIH), Center for Disease Control, (CDC), Harvard University, Stanford University, University of California San Francisco, and Massachusetts Institute of Technology (MIT).

Being based in Atlanta, Otogenetics has been working in partnership with flagship institutions in Georgia such as Emory University, Emory University Genetic Laboratory now Emory Genetic Laboratories (EGL), Georgia Institute of Technology, University of Georgia, Georgia State University, Georgia Southern University, Clark Atlanta University, Mercer University, and Atlanta-based CDC.

Otogenetics was the first laboratory in the USA to enroll in CAP NGS proficiency tests and received 100% accuracy each time. The company holds CLIA Certification and is licensed in Georgia, California, Florida, and New York* to provide clinical genetic testing. (*Special license to provide hearing loss gene testing in New York State).

Test offering now includes Hereditary Cancer Risk Assessment, Single Gene and Expanded Carrier Screening, Pharmacogenomics & Personalized Medicine, Cardiomyopathy, Whole Exome & RNA Sequencing for precision treatment of tumors, and testing for Rare Diseases. Disease panels are designed for both clinical research collaborators and clinical diagnostics.

NGS performed by Otogenetics provide clinicians and researchers with test results for genetic diagnoses and risk assessment and have resulted in the publications after rigorous expert reviews in highly reputable biomedical journals including Nature and Nature Medicine, attesting to the high caliber and quality of the gene panel design offered by the company. Otogenetics has also assisted medical schools in training a new generation of medical students in precision medicine. Selected publications and white papers are found in https://www.otogenetics.com/publications.

Xi Erick Lin, PhD

Otogenetics Founder
Emory University School of Medicine
Department of Otolaryngology – Head and Neck Surgery
Professor and Research Director
Department of Cell Biology
Associate Professor

Doctor of Philosophy, PhD (1993) Neuroscience, University of Michigan
Postdoctoral Research Associate (1993-1994): Molecular Cardiology Laboratory, Department of Medicine, University of Chicago
Postdoctoral Research Associate (1994-1996): Auditory Physiology Laboratory, Northwestern University, Chicago
Editorial Board Chinese Journal of Audiology and Speech Pathology
Publications Committee Journal of Association of Research Otolaryngology
Reviewer for NIH grant applications in US and for international biomedical grant applications

Dr. Lin did his post-doctoral training at University of Chicago and Northwestern University and is currently a tenured professor at Emory University School of Medicine. He has received grant awards from NIH for basic and translational research, and biomedical business development. In addition to leading the research effort in the Department of Otolaryngology – Head and Neck Surgery and training students, postdoc, and residents, Dr. Lin participates frequently in NIH study sessions and reviews research and clinical grant applications for NIH. Dr. Lin is also on the editor board of PlosOne and the Journal of Otorhinolaryngology, Hearing and Balance Medicine. His research interests are gene therapy, genetics, and neuroscience. He has published several papers on the genetics and physiology of the auditory system in highly regarded journals, including PNAS, EMBO Molecular Medicine, Cell Research, American Journal of Medical Genetics, and Journal of Neuroscience.

Ping Helen Chen, PhD

Otogenetics Co-Founder
Emory University School of Medicine
Department of Cell Biology
Associate Professor

Doctor of Philosophy, PhD (1996) Biochemistry and Molecular Genetics, University of Chicago
Post-Doctoral Fellow and Senior Research Associate House Ear Institute, University of Southern California
Co-Founder SA Biosciences
Reviewer for NIH grant applications in US and for international biomedical grant applications

Dr. Chen is a tenured Associate Professor at Emory University School of Medicine. She has received grant awards from NIH, March of Dimes Foundation of Birth Defect Research, and Human Frontier Science Program, European Union. She is an editor of the Journals Cilia and Developmental Dynamics, and a frequent guest editor for PloS Genetics. In addition to teaching and training graduate and medical students, and post-doctoral fellows, Dr. Chen is a reviewer for NIH cell biology and auditory study sections, and a member of NIH fellowship reviewer committee. She also participates frequently in international science program reviews including UK Wellcome Foundation and National Science Foundation in China. Her research interest is focused on cell biology, developmental biology, and genetics. She has published numerous papers on development and cell biology in prestigious journals, including Cell, Nature Cell Biology, Nature Genetics, PNAS, and Development.

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: https://doi.org/10.1007/s11033

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 parasiticusToxins 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 analysisJBMR. 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 cellsBreast Cancer Research and Treatment. doi: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 variantJournal of Medical Geneticshttp://dx.doi.org/10.1136/jmedgenet-2017-104885

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. http://dx.doi.org/10.1136/jmedgenet-2017-104632

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 familiesInternational Journal of Pediatric Otorhinolaryngology  DOI: http://dx.doi.org/10.1016/j.ijporl.2017.07.024

Nel M, Dashti MJS, Gamieldien J, Heckmann JM. (2017) Exome sequencing identifies targets in the treatment-resistant phathalmoplegic subphenotype of Myasthenia GravisNeuromuscular 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 mutationsEuropean Journal of Medical Genetics. online June 8, 2017. https://doi.org/10.1016/j.ejmg.2017.06.002

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 miceNature 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. doi.org/10.1371/journal.pone.0176516

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 FibrosisEur 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 VirulenceInfection 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 mutationBMC 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 Screening.  Otol 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 transformationBlood 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 mutationsClin 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 predispositionInternational 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 obesityObesity 23(7), 1440–1449. http://doi.org/10.1002/oby.211…

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 Nrf2J 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. http://doi.org/10.1016/j.dib.2…

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 syndromeCell 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 ResponseViruses, 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 testesGenes & Dev28: 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 AncestryGenetic Testing and Molecular Biomarkers, 18(2), 123–126. http://doi.org/10.1089/gtmb.20…

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 mutationsGenetics 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 LossMol 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 primarydystoniaHum. 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 SERAC1American 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 dystrophyJournal 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 pigmentosaMolecular 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 LGMD1FPLOS 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 phenotypeNeurogenetics 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 imperfectaEuropean 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 lossInternational 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 ImperfectaHuman 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 SequencingBiology 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 MutantsAntimicrobial 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 reportBMC 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 MYBPC1Human 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 LossPLoS 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 SystemThe 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 syndromesBlood. 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 leukemogenesisBlood. 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 sequencingMuscle 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.

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Our Laboratory Facility Is

 

CLIA certified ID#: 11D2066426
GA Clinical laboratory License #: 067-071
CA Clinical Laboratory License #: COS00800657
FL Clinical Laboratory License #: 800028666
CAP NGS proficiency tested under # 8702957-01; COLA ID#: 27894
Procedures support GLP, GCLP, GCP studies and projects

>30,000 NGS samples processed & >30 countries in 6 continents serviced

Here Are Just A Few Of Our Domestic And International Clients

 

  • Amgen Inc.
  • Baylor College of Medicine
  • Brigham and Woman’s Hospital
  • California Institute of Technology
  • Centers For Disease Control and Prevention (CDC)
  • Children’s Hospital Boston
  • Columbia University
  • Duke University Medical Center
  • Emory University
  • Harvard University Medical School
  • Johns Hopkins Medical School

  • Massachusetts General Hospital
  • Monsanto
  • National Institutes of Health (NIH)
  • Stanford University
  • Cleveland Clinic
  • University of Nebraska Medical Center
  • University of Pennsylvania School of Medicine
  • University of Washington
  • University of Texas MD Anderson Cancer Center
  • US Veterans Administration
  • Yale University