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. Professors from the 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, Massachusetts Institute of Technology (MIT), and accredited clinical laboratories.

Otogenetics was among 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, Pennsylvania, and New York* to provide clinical genetic testing. Otogenetics is CAP-accredited for NGS testing.

Test offering now includes Single Gene and Expanded Carrier Screening, NIPT, Molecular Screening of Congenital Hearing Loss, Familial Hypercholesterolemia, Familial Hyperlipidemia, Nonsyndromic Monogenic Obesity Gene Testing, Diabetes MODY Gene Testing, Familial Early-onset Alzheimer Disease Risk Gene Testing, Hereditary Cancer Risk Assessment, clinical exome, rare diseases, and other tests for personalized medicine or clinical trials.

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 above on the publications tab.

In response to COVID-19 in 2020, Otogenetics validated highly sensitive molecular testing for COVID-19. In addition, Otogenetics works directly with a CMO/OEM manufacturer with extensive experience in lateral flow rapid detection device manufacturing and validated  highly sensitive and specific testing for COVID-19 IgM/IgG antibodies. Otogenetics also worked with a manufacturer and validated a COVID-19 PCR test that is among the most sensitive PCR test using FDA standard samples.

Xi Erick Lin, PhD

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

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 Managing Director

Adjunct Faculty in the Department of Cell Biology, Emory University School of Medicine

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 was a graduate from the University of Chicago, and awarded the best dissertation in biomedical research by the Pritzker School of Medicine and recognized for outstanding performance in the field of Biochemistry and Molecular Biology by the Department of Biochemistry and Molecular Biology. She was a tenured faculty member at Emory University School of Medicine. She is currently the managing lab director for clinical testing and test development with clinical lab director licenses from GA and NY. She has received grant awards from NIH, March of Dimes Foundation of Birth Defect Research, and Human Frontier Science Program, European Union. The studies led by her have been published in scientific journals including Nature Genetics, Nature Cell Biology, and PNAS. In addition to teaching and training graduate and medical students, and post-doctoral fellows, Dr. Chen has served as a reviewer for NIH for research grants and fellowship applications.  She also participates frequently in international science program reviews including UK Wellcome Foundation.

Dr. Hung is a clinical pathologist with vast clinical pathology practice experience and medical licenses in several states. He had served as a teaching fellow in Pathology in Tufts University School of Medicine, chief of Laboratory Services in Navy Hospital in South Carolina, and director of laboratory in several medical centers and hospitals before joining Otogenetics as the medical director and the director of laboratory.

Research And Discovery, Clinical Genetic Diagnosis, And Medical Education

Gao X. etal. Nkx2.3 transcription factor is a key regulator of mucous cell identity in salivary glands. Developmental Biology 2024.

Martinez-Rendon J. et al. Peled A. et al. Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4. American Journal of Medical Genetics (AJMG) 2023.

Martinez-Rendon J. et al. Ouabain induces transcript changes and activation of RhoA/ROCK signaling in cultured epithelial cells (MDCK).  Current Issues in Molecular Biology 2023.

Majdalani P. et al. A missense variation in PHACTR2 associates with impaired actin dynamics, dilated cardiomyopathy, and left ventricular non-compaction in humans. International Journal of Molecular Sciences 2023. Article link. Otogenetics Laboratory performed Exome sequencing that identified the novel genetic variation.

Guizzo M.G. et al. Rickettsia parkeri infection modulates the sialome and ovariome of the Gulf coast tick, Amblyomma maculatum. Frontiers in Microbiology 2022. Article Link

Jo H.D et al. Genetic load of alternations of transcription factor genes in non-syndromic deafness and the associated clinical phenotypes: experience from two tertiary referral centers. Biomedicines 2022. Article note: Otogenetics performed Hearing loss genetic testing and whole exome testing for the team of Otolaryngologists and identified 33 families with mutations in deafness genes that are transcriptional factors. Article Link

Ochi T et al. Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome. Scientific Reports 2022. 12, 14562.

Martinez-Monleon A et al. Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup. Scientific Reports 2022. 12, 12460. doi: 10.1038/s41598-022-16455-1

Mortier J et al. Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia. European Achieves of Oto-Rhino-Laryngology 2022.

Du J et al. FOXP3 exon 2 controls Treg stability and autoimmunity. Science Immunology 2022, 7(72). Article Note: Otogenetics performed RNA-Seq assays for the researchers (funded by NIH) in a clinical study that identified a new biomarker in patients who develop immunodeficiency, polyendocrinopathy and enteropathy X-linked syndrome.

Feng S et al. hnRNPH1 recruites PTBP2 and SRSF3 to modulate alternative splicing in germ cells. Nature Communications 2022, 13, 3588

Falguera JVT et al. DNA damage-induced block of sporulation in  involves downregulation of 

Fernandez JS et al. Staphylococcus aureus a-toxin effect on acinetobacter baumannii behavior. Biology 202211(4), 570;

Vaclavik V et al. New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family. Investigative Ophthalmology & Visual Science (2022), Vol.63, 23.

PD’Arpa et al. Pseudomonas aerugiosa transcriptome adaptations from colonization to biofilm infection of skin wounds. Scientific Reports (2021)

IG Luzina et al. Regulator of Cell Cycle Protein (RGCC/RGC-32) Protects Against Pulmonary Fibrosis. American J of Respiratory Cell and Molecular Biology (2021)

RA Helmer et al. Helicase-like transcription factor-deletion from the tumor microenvironment in a cell line-derived xenograft model of colorectal cancer reprogrammed the human transcriptome-S-nitroso-proteome to promote inflammation and redirect metastasis. PLOS ONE (2021).

S Torkamandi et al. Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing lossGene Reports (2021). Article Note: Otogenetics performed the Deafness gene test and identified the familial mutations for Usher syndrome and non-syndromic hearing loss.

Y Xu et al. Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigoPloS One (2021).

K Yamamoto et al. Parallel Evolution of Enhanced Biofilm Formation and Phage-Resistance in Pseudomonas aeruginosa during Adaptation Process in Spatially Heterogeneous Environments. Microorganisms (2021)

J Li et al. Missense variant of endoplasmic reticulum region of WFS1 gene causes autosomal dominant hearing loss without syndromic phenotype. Biomedical Research International (2021).

B-J Chen et al. The transcriptome characteristics of vestibular organs from delayed endolymphatic hydrops patients (Menieres disease). Clinical Otolaryngology (2021).

P Miar et al. A novel stop-gain mutation in MSH2 gene among a Persian family fulfilling classic Amsterdam criteria for Lynch Syndrome. Research Square (2021).  Article Note: Otogenetics performed the Hereditary Cancer Gene Test and identified a novel MSH2 mutation for the affected family.

L Sakhneny et al. Pericytes contribute to the islet basement membranes to promote beta-cell gene expression. Scientific Reports (2021) 11, Article # 2378

J Kurushima et al. Inactivation of GaIU leads to a cell wall-associated polysaccharide defect that reduces the susceptibility of Enterococcus faecalis to bacteriolytic agents. Applied and Environmental Microbiology (2021) DOI: 10.1128/AEM.02875-20

S Elrharchi et al. Novel mutations in AIFM1 gene associated with X-linked deafness in a Moroccan family.  Human Heredity (2021)

S Prasad et al. Radixin modulates the function of outer hair cell stereocilia. Communications Biology (2020)

E Nisenbaum et al. Screening Strategies for Deafness Genes and Functional Outcomes in Cochlear Implant Patients. Otology and NeuroOtology (2020) 42,p180-187. doi: 10.1097/MAO.0000000000002969

J Mi et al. Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis. Genes (2020)

I Zaganas et al. Genetics cause of heterogeneous inherited myopathies in a cohort of Greek patients. Molecular Genetics and Metabolism Reports (2020)

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.  A Levitas, E Muhammad, Y Zhang, IP Gil, R Serrano, N Diaz, M Arafat, AA Gavidia, MS Kapiloff, M Mercola, Y Etzion, R Parvari, I Karakikes. PloS Genetics (2020).

C Cozzitorto, L Mueller, S Ruzittu, N Mah, D Willnow Developmental Cell (2020) A Specialized Niche in the Pancreatic Microenvironment Promotes Endocrine Differentiation

J. Mohamad, et al., Clinical and Experimental Dermatology (2020) Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

I. Habibi, et al., Scientific Reports (2020), Genetic spectrum of retinal dystrophies in Tunisia.

A. Lane, et al. Stem Cell Reports (2020), Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.

JM Hiderbrand, M Kauppi, J Silke. Nature Communications (2020), A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopietic dysfunction. Human Exome sequencing performed by Otogenetics links compound heterozygous variants with pediatric autoinflammatory disease, chronic recurrent multifocal osteomyelitis (CRMO) in patients.

M Koohiyan, M Hashemzadeh-Chaleshtori, M Salehi… – Audiology and Neurotology (2020)  A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23… Haplotyping and logarithm of the odds score calculations were done either to confirm or reject linkage [Thiele, 2005]. NGS, Data Analysis, and in silico Prediction. The DNA sample was submitted to the Otogenetics Corporation (Norcross, GA, USA) …

YZ Paterson, A Cribbs, M Espenel, EJ Smith… – Stem Cell Research & …, (2020) Genome-wide transcriptome analysis reveals equine embryonic stem cell-derived tenocytes resemble fetal, not adult tenocytes… Tendon injuries occur frequently in human and equine athletes. Treatment options are limited, and the prognosis is often poor with functionally deficient scar tissue resulting. Fetal tendon injuries in contrast are capable of healing …

LJC Wong, T Chen, J Wang, S Tang, ES Schmitt… – Genetics in Medicine, (2020) Interpretation of mitochondrial tRNA variants… To develop criteria to interpret mitochondrial transfer RNA (mt-tRNA) variants based on unique characteristics of mitochondrial genetics and conserved structural/functional properties of tRNA. We developed rules on a set of …

DE Angelaki, J Laurens – Current Opinion in Neurobiology, (2020) The head direction cell network: attractor dynamics, integration within the navigation system, and three-dimensional properties… JavaScript is disabled on your browser. Please enable JavaScript to use all the features on this page. Skip to main content Skip to article …

EE Vietsch, SM Roth, JK Simmons, A Javaid, MD Park… Intratumoral heterogeneity and tumor-host crosstalk alter drug sensitivity of clonal subpopulations in a pancreatic cancer model… Exome sequencing was performed by Otogenetics (Nor- cross, GA). In short, mouse exons were captured with an Aligent V4 kit and paired-end 100 nucleotide reads were obtained from the HiSeq2000 (Illumina) with a 30X coverage …

SGW Driver, MR Jackson, K Richter, P Tomlinson… – European Journal of Human …, (2019) Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype… consent. Sequence analysis. Exome libraries were constructed and sequenced by Otogenetics (Atlanta, USA) using a HiSeq2500 (Illumina), with prior enrichment using the SureSelect V5 + UTRs (Agilent) capture platform. Sequence …

P Meinke, ARW Kerr, R Czapiewski, I Jose, CR Dixon… – EBioMedicine, (2019) A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism… RNA-Seq: total RNA from biopsy tissue with rRNA depletion and random-primedcDNA preparation and PE100 sequencing on a Hi-Seq2000 platform with 20 million reads minimum (Otogenetics Corporation, Norcoss, USA) …

L Mary‐Jessica Nancy, B Kelly, F Firzana, D Senanile… – Journal of Orthopaedic Research®️ Exploring new genetic variants within COL5A1 intron 4‐exon 5 region and TGF‐β family with risk of anterior cruciate ligament ruptures.… Exon V5+UTRs (71Mb) Capture Kit (Agilent Technologies, California USA) and subjected to paired-end sequencing on the Illumina HiSeq 2000/25000 platform at 30X coverage (Otogenetics Corporation, USA) 24 . An established variant calling …

V Thumbigere‐Math, BL Foster, M Bachu, H Yoshii… – Journal of Bone and Mineral …, (2019) Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Programs and Increases Susceptibility to Tooth Root Resorption… Genomic DNA was isolated from whole saliva using an all-in-one collection kit (DNA Genotek Inc., Ottawa, Canada). Whole-exome sequencing was performed by a service provider (Otogenetics, Doraville, GA, USA) using …

Y Yuan, Q Li, Y Su, Q Lin, X Gao, H Liu, S Huang… – European Journal of Human …, (2019) Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls… Library preparation and sequencing. The DA3 panel assay (Otogenetics Corporation, Atlanta, GA) includes 119 nuclear deafness genes and 10 mitochondria genes (Table S1). Library preparation and sequencing were

A Kovalchuk, D Santos-Garcia, UMRB et Biologie L. Viridiana Soto-Robles, Verónica Torres-Banda1, Flor N. Rivera-Orduña, Everardo Curiel-Quesada, María Eugenia Hidalgo-Lara2 and Gerardo Zúñiga… mg/mL (Thermo Fisher Scientific, Waltham, MA, United States) at 37◦C for 1 h. The total gDNA quantity and quality were measured in a NanoDrop 2000 (Thermo Fisher Scientific), whole-genome sequencing was done by …

A Godec, R Jayasinghe, JSA Chrisinger, B Prudner… – Neuro-Oncology Advances, (2019) Whole exome sequencing reveals the maintained polyclonal nature from primary to metastatic malignant peripheral nerve sheath tumor in two patients with NF1

FL Chung, Y Fu, AR He – US Patent App. 16/324,797, (2019) US Patent Application using Otogenetics’ service Biomarkers for Carcinogenesis and Uses Thereof

D Hong, P Fang, S Yao, J Chen, X Zhang, S Chen… – Annals of clinical and …, (2019) Variants in MME are associated with autosomal‐recessive distal hereditary motor neuropathy

RA Helmer, G Kaur, LA Smith, BS Chilton – PLOS ONE, (2019) Helicase-like transcription factor (Hltf) gene-deletion promotes oxidative phosphorylation (OXPHOS) in colorectal tumors of AOM/DSS-treated mice

S Al-Tahan, L Weiss, H Yu, S Tang, M Saporta… – Neurology Genetics, (2019) New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

LM Drusbosky, NK Singh, KE Hawkins, C Salan… – Blood Advances, (2019) A genomics-informed computational biology platform prospectively predicts treatment responses in AML and MDS patients

N Amarsaikhan, A Tsoggerel, C Hug, SP Templeton – The Journal of Immunology, (2019) The Metabolic Cytokine Adiponectin Inhibits Inflammatory Lung Pathology in Invasive Aspergillosis

M Honda, T Kimura, Y Kamata, K Tashiro, S Kimura… – The Prostate Differential expression of androgen receptor variants in hormone‐sensitive prostate cancer xenografts, castration‐resistant sublines, and patient specimens according …

E Kounatidou, S Nakjang, SRC McCracken, SM Dehm… – Nucleic Acids Research, (2019) A novel CRISPR-engineered prostate cancer cell line defines the AR-V transcriptome and identifies PARP inhibitor sensitivities

JJ Han, PD Nguyen, DY Oh, JH Han, AR Kim, MY Kim… – Scientific Reports, (2019) Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population

AC Hepburn, RE Steele, R Veeratterapillay, L Wilson… – Oncogene, (2019) The induction of core pluripotency master regulators in cancers defines poor clinical outcomes and treatment resistance

B Lei, AR Flores, C Yeoman, M Liu – Microbiol Resour Announc, (2019) Complete Genome Sequence of Hypervirulent Streptococcus pyogenes emm3 Strain 1838

L Aspit, A Levitas, S Etzion, H Krymko, L Slanovic… – Journal of Medical Genetics, (2018) CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy

B Cakir, L Tian, N Crofts, HL Chou, K Koper, CY Ng… – The Plant Journal Re‐programming of gene expression in the CS 8 rice line over‐expressing ADP glucose pyrophosphorylase induces a suppressor of starch biosynthesis

AC O’Neill, C Kyrousi, J Klaus, RJ Leventer, EP Kirk… – Cell Reports, (2018) A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

A Maharaj, F Buonocore, E Meimaridou, G Ruiz-Babot… – Journal of the Endocrine …, (2018) Predicted Benign and Synonymous variants in CYP11A1 Causes Primary Adrenal Insufficiency through Missplicing

X Gu, PJ Coates, L Boldrup, L Wang, A Krejci, T Hupp… – Journal of Oral Pathology & …, (2018) Copy number variation: a prognostic marker for young patients with squamous cell carcinoma of the oral tongue

X Gu, PJ Coates, L Boldrup, L Wang, A Krejci, T Hupp… – Journal of Oral Pathology & …, (2018) Copy number variation: a prognostic marker for young patients with squamous cell carcinoma of the oral tongue

ER Chimusa, P Beighton, J Kumuthini, RS Ramesar – Human Molecular Genetics, (2018) Detecting Genetics Modifiers of Spondyloepimetaphyseal Dysplasia with Joint Laxity (SEMDJL) in the Caucasian Afrikaner community

N ul Ain, M Iqbal, H Valta, CA Emerling, S Ahmed… – European Journal of …, (2018) Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux

O Maya-Lucas, S Murugesan, K Nirmalkar, LD Alcaraz… – Anaerobe, (2018) The gut microbiome of Mexican children affected by obesity

B Quinn, N Rodman, E Jara, JS Fernandez, J Martinez… – Scientific Reports, (2018) Article. Human serum albumin alters specific genes that can play a role in survival and persistence in Acinetobacter baumannii

KJ Dillard, MK Hytönen, D Fischer, K Tanhuanpää… – PLOS ONE, (2018) A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs

S Lin, GV Harlalka, A Hameed, HM Reham, M Yasin… – BMC Medical Genetics, (2018) Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature

RL Eriksen, AS Klein – Fisheries and Aquatic Sciences, (2018) Organism-environment interactions and differential gene expression patterns among open-coastal and estuarine populations of Porphyra umbilicalis Kützing

S Jha, N Fratzl‐Zelman, P Roschger, GZ Papadakis… – Journal of Bone and Mineral …, (2018)… Distinct clinical and pathological features of melorheostosis associated with somatic MAP2K1 mutations

HRW Gurnsey, J Christodoulou, RA Wevers, J Pitt  Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis… 

G Kaur, RA Helmer, LA Smith, R Martinez-Zaguilan… – PloS one, (2018) Alternative splicing of helicase-like transcription factor (Hltf): Intron retention-dependent activation of immune tolerance at the feto-maternal interface

JB Rosa – (2018) Extracellular Cues in the Regulation of Tube Shape During Organogenesis

T Hulett – (2018) Coordinated IgG Antibody and CD8+ T Cell Recognition of Tumor Antigens

M Jalali-Sefid-Dashti, M Nel, JM Heckmann… – BMC Medical Genetics, (2018) Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

A Pantazopoulou, CM Galmarini, MA Peñalva – Scientific Reports, (2018) Molecular basis of resistance to the microtubule-depolymerizing antitumor compound plocabulin

PLA Leighton, R Kanyo, GJ Neil, NM Pollock… – Journal of Biological …, (2018) Prion gene paralogs are dispensable for early zebrafish development but have non-additive roles in seizure susceptibility

HR Waterham, J Christodoulou, RA Wevers, J Pitt – The American Journal of Human …, (2018) David Coman,* Lisenka ELM Vissers, 6, 20 Lisa G. Riley, 7, 8 Michael P. Kwint, 6 Roxanna Hauck, 8 Janet Koster, 9 Sinje Geuer, 6 Sarah Hopkins, 10 Barbra Hallinan …

JT Roberts, DG Patterson, VM King, SV Amin… – Processes, (2018) ADAR Mediated RNA Editing Modulates MicroRNA Targeting in Human Breast Cancer

MQ Reeves, E Kandyba, S Harris, R Del Rosario… – Nature Cell Biology, (2018) Multicolour lineage tracing reveals clonal dynamics of squamous carcinoma evolution from initiation to metastasis

AE Mustafa, T Faquih, B Baz, R Kattan, A Al-Issa… – Genes, (2018) Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

JT Roberts, DG Patterson, VM King, SV Amin… ADAR Mediated RNA Editing Modulates Micro RNA Targeting in Human Breast Cancer

X Gao, JC Xu, WQ Wang, YY Yuan, D Bai, SS Huang… – BioMed Research …, (2018)… deafness genes. A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family

TW Hulett, SM Jensen, PA Wilmarth, AP Reddy… – Journal for ImmunoTherapy …, (2018) Coordinated responses to individual tumor antigens by IgG antibody and CD8+ T cells following cancer vaccination

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 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 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.

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:

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

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.

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,  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 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.

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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.

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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.

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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

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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.

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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.

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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.…

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.

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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.

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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.

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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.

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X Gao, MS Oei, CE Ovitt, M Sincan, JE Melvin – Physiological Genomics, (2018) Transcriptional Profiling Reveals Gland-specific Differential Expression in the Three Major Salivary Glands of the Adult Mouse… animal. The 18 gland 107 samples were shipped overnight to Otogenetics Corporation(Atlanta, GA). Total RNA was 108 … reads. 122 Analysis and Comparison of RNA-Seq Data.

W Li, Y Huang, D Sargsyan, TO Khor, Y Guo, L Shu… – Cell & Bioscience, (2018) Epigenetic alterations in TRAMP mice: epigenome DNA methylation profiling using MeDIP-seq … DNAnexus, Inc., Mountain View, CA, USA). The samples were sent to Otogenetics Corp. (Norcross, GA) for Illumina sequencing and alignment with the reference mouse genome.

S Asgharzade, MA Tabatabaiefar, J Mohammadi-asl… – International Journal of …, (2018) A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing … 12]. The DNA sample was submitted to the Otogenetics Corporation (Norcross, GA). Exome capture was performed targeting 129 known deafness genes. Sequencing was done on a HiSeq2000 (Illumina, San Diego, CA). A …

D Cassatella, S Howard, J Acierno, C Xu, G Papadakis… – European Journal of …, (2018) Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures… 9 V2 (Roche, Basel, Switzerland), and sequenced on the HiSeq 2000 platform (Illumina, San Diego, USA) at either BGI (BGI, Shenzen, PRC) or Otogenetics (Otogenetics Corp., Atlanta, USA).

N Michael, MM Juliet, GW Anne, R Lisa, H Joshua… – Molecular Genetics and …, 2018 Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing… The skin demonstrated hyperkeratosis, parakeratosis and an absent granular layer. 2.2. WES and bioinformatics. DNA extracted from the blood of the proband, and her parents were subjected to WES, performed by Otogenetics.

D Cassatella, S Howard, J Acierno, C Xu, G Papadakis… – European Journal of …, (2018) Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures… 9 V2 (Roche, Basel, Switzerland), and sequenced on the HiSeq 2000 platform (Illumina, San Diego, USA) at either BGI (BGI, Shenzen, PRC) or Otogenetics (Otogenetics Corp., Atlanta, USA).

S Asgharzade, MA Tabatabaiefar, J Mohammadi-asl… – International Journal of …, (2018) A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing … Based on the literature review of the most frequent loci, both globally and regionally, 15 lociwere selected for screening in this family (results not shown) and were found to be negative [ 12].

LG Banaszak, V Giudice, X Zhao, Z Wu, S Gao… – Blood Cells, Molecules, and …, (2018) Abnormal RNA splicing and genomic instability after induction of DNMT3A mutations by CRISPR/Cas9 gene editing… mutations. Library construction, exon capture, and sequencing was performed by Otogenetics (Atlanta, GA, USA) … described. 5-mC profiling, fragmentation, library preparation and sequencing were performed

S Khateb, B Kowalewski, N Bedoni, M Damme… – Genetics in Medicine, (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans… WES analysis of individuals MOL0120 III:2 and MOL0737 II:2 was performed at Otogenetics (Norcross, GA) using Agilent V4 (Santa Clara, CA, USA) and Illumina HiSeq 2000 with 30 × coverage.

IG Luzina, MV Salcedo, ML Rojas-Peña, AE Wyman… – Cellular Immunology, (2018) Transcriptomic Evidence of Immune Activation in Macroscopically Normal-Appearing and Scarred Lung Tissues in Idiopathic Pulmonary Fibrosis… a University of Maryland School of Medicine, Baltimore, MD, USA; b Veterans Administration Medical Center, Baltimore, MD, USA; c Otogenetics Corporation, Atlanta, GA, USA; d Pulmonary and Mediastinal Pathology

Y Lu, PWL Tai, J Ai, DJ Gessler, Q Su, X Yao, Q Zheng… – Molecular Therapy-Nucleic …, (2017) Transcriptome profiling of neovascularized corneas reveals miR-204 as a multi-target biotherapy deliverable by rAAVs… Whole corneal tissues were sent on dry ice to Otogenetics (Atlanta, GA). Total RNA was extracted from tissues and processed for RNA-seq library preparation and high-throughput sequencing on a HiSeq2500 platform following Otogenetics’ standard pipelines

R Maroofian, M Riemersma, LT Jae, N Zhianabed… – Genome Medicine, (2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular …… This was followed by whole exome sequencing (WES) of genomic DNA from proband (V:2) performed at Otogenetics Corporation (Norcross, GA, USA) using the Agilent SureSelect Human All ExonV4 (51 Mb) enrichment kit with a paired-end (2 × 100)

S Fu, J Shao, C Paul, C Zhou, JS Hartung – BMC Genomics, (2017) Transcriptional analysis of sweet orange trees co-infected with ‘Candidatus Liberibacter asiaticus’ and mild or severe strains of Citrus tristeza virus Skip to main content. Advertisement. We are working on a new version of this page and we’d like your opinion. See an early preview or learn more. Biomed Central

박미나 – (2017) Characteristics of novel KCNQ4 variants showing a distinct hearing loss phenotype… [8]. Molecular genetic diagnosis Targeted exon sequencing of 129 reported deafness genes (TES-129) from two subjects (SB62-110 and SB155-271) was performed by Otogenetics (Norcross, GA, USA). The acquired reads were aligned Page 12. 3

PG Kopf, SK Park, A Herrnreiter, C Krause, BP Roques… – Endocrinology, (2017) Obligatory Metabolism of Angiotensin II to Angiotensin III for Zona Glomerulosa Cell-Mediated Relaxations of Bovine Adrenal Cortical Arteries… 6 cells) were placed in RNAlater and shipped to Otogenetics for RNA extraction, polyA cDNA preparation, Illumina library preparation, and Illumina HiSeq2000 sequencing. Using DNAnexus, the reads were aligned and assembled to the bovine reference transcriptome

AR Kim, J Chung, NKD Kim, C Lee, WY Park, DY Oh… – International Journal of …, (2017) The Analysis of A Frequent TMPRSS3 Allele Containing P. V116M and P. V291L in A Cis Configuration among Deaf Koreans We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cisconfiguration. We aimed to evaluate the pathogenicity of the allele. Among 88 cochlear implantees

X Deng, W Zou, M Xiong, Z Wang, JF Engelhardt… – Journal of Virology, (2017) Human Parvovirus Infection of Human Airway Epithelia Induces Pyroptotic Cell Death via Inhibiting Apoptosis Page 1. 1 Human Parvovirus Infection of Human Airway Epithelia Induces Pyroptotic Cell Death 1 via Inhibiting Apoptosis 2 3 4 Xuefeng Deng1, Wei Zou1, Min Xiong2, Zekun Wang1, John F. Engelhardt3,4, Shui Qing Ye2, 5

A Khalil, S Markowitz – US Patent 20,170,268,008, (2017) DIAGNOSTIC AND THERAPEUTIC TARGETING OF DNMT-1 ASSOCIATED RNA IN HUMAN CANCER A method for treating cancer in a subject in need thereof includes administering to cancer cells of the subject an agent effective to modulate the level of DNMT1-associated RNA and/or the interaction.

DB Wilburn, RC Feldhoff – bioRxiv, 2018 An annual cycle of gene regulation in the red-legged salamander mental gland: from hypertrophy to expression of rapidly evolving pheromones Page 1. – 1 – An annual cycle of gene regulation in the red-legged salamander mental gland: from hypertrophy to expression of rapidly evolving pheromones Damien B.

PD Zamore, X Xu, G Gao Transcriptome Profiling of Neovascularized Corneas Reveals miR-204 as a Multi-target Biotherapy Deliverable by rAAVs… RNA-Seq Mouse corneas representing three treatment groups were treated as above: non-treated (day 0), post-operative (day 5), and regression post-operative (day 15). Whole corneal tissues were sent on dry ice to Otogenetics (Atlanta, GA, USA)

JR Rudman, C Mei, SE Bressler, SH Blanton, XZ Liu – Journal of Genetics and …, 2018 Precision medicine in hearing loss Precision medicine (PM) proposes customized medical care based on a patient’s unique genome, biomarkers, environment, and behaviors. Hearing loss (HL) is the mo.

A Khalaileh, A Abu-Diab, T Ben-Yosef… – … Ophthalmology & Visual …, 2018 The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

MY Chang, C Lee, JH Han, MY Kim, HR Park, N Kim… – BMC Medical Genetics, 2018… Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness TES and bioinformatics analyses were performed, as previously described [20–25]. The DNA samples from SB246–482 and SB224-437 underwent TES of 129 known deafness genes (TRS-129) by Otogenetics (Norcross, GA, USA) (Additional file 1: Table S1)

GJW Huang, Y Su, J Li, DY Kang, MG Zhang, X Lin… A missense mutation in POU4F3 causes mid-frequency hearing loss in a Chinese ADNSHL family Capture and NGS of the coding exons for the 129 deafness genes and their flanking100 bps (Supplemental Table 1) were performed on an Illumina HiSeq 2000 by Otogenetics Corporation (Norcross, GA, USA). Page 6.

A Taghipour-Sheshdeh, F Nemati-Zargaran… – Genomics, 2018 A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family … One family, which was not linked to these loci, was subjected to Otogenetics deafness Next Generation Sequencing (NGS) panel. Results. NGS … 1 These authors contributed equally to the study. © 2018 Published by Elsevier Inc. Note

CL Hodo, MR Mauldin, JE Light, K Wilkins, S Tang… – Emerging infectious …, 2018 Novel Poxvirus in Proliferative Lesions of Wild Rodents in East Central Texas, USA. … negative for poxvirus DNA. A DNA aliquot of the mass from mouse 1 was sent to Otogenetics (Atlanta, GA, USA) for whole-genome sequencing with an Illumina HiSeq platform (Illumina Inc., San Diego, CA, USA). From these data

J Tian, SR Vemula, J Xiao, EM Valente, G Defazio… – Molecular Genetics & …, 2018 Whole‐exome sequencing for variant discovery in blepharospasm … 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc … DNA was then forwarded to Otogenetics or Beijing Genomics Institute (BGI) for additional in-house quality control assessments prior to WES

Our Laboratory Facility Is


CMS Accredited
GA Licensed Clinical Laboratory
CA Licensed Clinical Laboratory
FL Licensed Clinical Laboratory

PA Licensed Clinical Laboratory

CAP Accredited Clinical Laboratory
Procedures support GLP, GCLP, GCP studies and projects

>60,000 NGS samples processed annually with >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