Publications and Downloadable Materials

Rare genetic variants in Jewish patients suffering from age-related macular degeneration.
Shoshany N, Weiner C, Safir M, Einan-Lifshitz A, Pokroy R, Kol A, Modai S, Shomron N, Pras E.
Genes 2019, 10(10), 825.

Phospholipase C-Gamma 2 activity in Familial Steroid-Sensitive Nephrotic Syndrome.
Parker L, Bahat H, Appel MY, Baum DV, Forer R, Pillar N, Goldberg M, Goldman M.
Pediatr Res. 2019 Apr;85(5):719-723.

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Rabinowitz T, Polsky A, Golan D, Danilevsky A, Shapira G, Raff C, Basel-Salmon L, Matar RT, Shomron N.
Genome Res. 2019 Feb 20. Epub ahead of print.

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E.
N Engl J Med. 2019 Feb 28;380(9):833-841.

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.
Shohet A, Cohen L, Haguel D, Mozer Y, Shomron N, Tzur S, Bazak L, Basel Salmon L, Krause I.
Eur J Hum Genet. 2019 Feb;27(2):263-268.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM6, Heimer G.
Eur J Paediatr Neurol. 2019 Feb 19. pii: S1090-3798(18)30411-2.

HIV-1 infection increases microRNAs that inhibit Dicer1, HRB and HIV-EP2, thereby reducing viral replication.
Modai S, Farberov L, Herzig E, Isakov O, Hizi A, Shomron N.
PLoS One. 2019 Jan 25;14(1):e0211111.

Comparison of breast cancer metastasis models reveals a possible mechanism of tumor aggressiveness.
Pillar N, Polsky AL, Weissglas-Volkov D, Shomron N.
Cell Death Dis. 2018 Oct 10;9(10):1040.

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome.
Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome.
Guemez-Gamboa A, Çaglayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Gali H, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG.
Ann Neurol. 2018 Sep 3. Epub ahead of print.

SMYD1 is the underlying gene for the AnWj negative blood group phenotype.
Yahalom V, Pillar N, Zhao Y, Modan S, Fang M, Yosephi L, Asher O, Shinar E, Celniker G, Resnik-Wolf H, Brantz Y, Hauschner H, Rosenberg N, Cheng L, Shomron N, Pras E.
Eur J Haematol. 2018 Jun 29. Epub ahead of print.

Analysis of microRNAs in familial Mediterranean fever.
Amarilyo G, Pillar N, Ben-Zvi I, Weissglas-Volkov D, Zalcman J, Harel L, Livneh A, Shomron N.
PLoS One. 2018 May 22;13(5):e0197829.

Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A.
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E.
J Invest Dermatol. 2018 Jun 26. pii: S0022-202X(18)31969-9.

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype.
Vodo D, Sarig O, Jeddah D, Malchin N, Eskin-Schwarz M, Mohamad J, Rabinowitz T, Goldberg I, Shomron N, Khamaysi Z, Bergman R, Sprecher E.
Br J Dermatol. 2018 Jun;178(6):1455-1457.

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing. 
Sharony R, Borochowitz Z, Cohen L, Storch A, Rosenfeld R, Modai S, Reinstein E.
Hum Genet. 2017 Jul;136(7):835-845.

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D2, Shomron N.
Gene. 2017 Mar 30;606:47-52.

A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
Pillar N, Pleniceanu O, Fang M, Ziv L, Lahav E, Botchan S, Cheng L, Dekel B, Shomron N.
Hum Genet. 2017 Jul;136(7):835-845.

Epidermolytic Ichthyosis Sine Epidermolysis
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E.
Am J Dermatopathol. 2017 Jun;39(6):440-444

Differential analysis of mutations in the Jewish population and their implications for diseases
Einhorn Y, Weissglas-Volkov D, Carmi S, Ostrer H, Friedman E, Shomron N.
Genet Res (Camb). 2017 May 15;99:e3

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis
Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WH, Ast G, Gallo RL, Uitto J, Sprecher E.
J Invest Dermatol. 2017 Feb;137(2):385-393

Mutations in TSPEAR, encoding a regulator of Notch signaling, affect tooth and hair follicle morphogenesis
Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L., Weissglas-Volkov D, Eskin-Schwartz M,  Adase C, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M,  Shalev S, Gallo R, Shomron N, Paus R, and Sprecher E.
PLoS Genet. 2016 Oct; 12(10): e1006369

Whole-exome sequencing in individuals with multiple cardiovascular risk factors and normal coronary arteries.
Abramowitz Y, Roth A, Keren G, Isakov O, Shomron N, Laitman Y, Weissglas-Volkov D, Arbel Y, Banai S, Finkelstein A, Friedman E.
Coron Artery Dis. 2016 Jun;27(4):257-66.

Somatic Mosaicism for a "Lethal" GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement
Eskin-Schwartz M, Metzger Y, Peled A, Weissglas-Volkov D, Malchin N, Gat A, Vodo D, Mevorah B, Shomron N, Sprecher E, Sarig O.
Pediatr Dermatol. 2016 May;33(3):322-6

Actionable clinical decisions based on comprehensive genomic evaluation in asymptomatic adults
Pillar N, Isakov O, Weissglas-Volkov D, Botchan S, Friedman E, Arber N, Shomron N.
Mol Genet Genomic Med. 2015 Sep;3(5):433-9

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration
Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E.
J Med Genet. 2015 Jul;52(7):484-92

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T.
Hum Mol Genet. 2015 Jul 1;24(13):3742-51

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination
Isakov O, Lev D, Blumkin L, Celniker G, Leshinsky-Silver E, Shomron N.
J Genet Genomics. 2015 Feb 20;42(2):79-81

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Brownstein CA, et al
Genome Biol. 2014 Mar 25;15(3):R53

Cole Disease results from mutations in ENPP1
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E.
Am J Hum Genet. 2013 Oct 3;93(4):752-7

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJ, Pohler E, Simpson MA, McLean WH, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E.
Nat Genet. 2013 Oct;45(10):1244-8

Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism
Isakov O, Rinella ES, Olchovsky D, Shimon I, Ostrer H, Shomron N, Friedman
Genet Res (Camb). 2013 Aug;95(4):114-20

Exome sequencing analysis: a guide to disease variant detection
Isakov O, Perrone M, Shomron
Methods Mol Biol. 2013;1038:137-58

Assembly algorithms for deep sequencing data: basics and pitfalls
Kol N, Shomron N.
Methods Mol Biol. 2013;1038:81-91

Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection
Neuman JA, Isakov O, Shomron N.
Brief Bioinform. 2013 Jan;14(1):46-55

Familial pityriasis rubra pilaris is caused by mutations in CARD14
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E.
Am J Hum Genet. 2012 Jul 13;91(1):163-70

GenomeGems: evaluation of genetic variability from deep sequencing data
Ben-Zvi S, Givati A, Shomron N.
BMC Res Notes. 2012 Jul 2;5:338

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.
Genome Biol. 2011 Sep 14;12(9):R89

Molecular risk factors for schizophrenia
Modai S, Shomron N.
Trends Mol Med. 2016 Mar;22(3):242-53

Frequently Asked Questions About Genomic Intelligence®

The Genomic Intelligence® platform provides automation, analysis and clinical reporting support for amplicon- and probe-based gene tests, multigene panels, exomes and genomes.

Most of our customers use the Genomic Intelligence® platform to provide tests in three areas: hereditary cancer screening, carrier screening and exome analysis for rare disease diagnosis. However, we are happy to work in other therapeutic areas assessing germline mutations. The Genomic Intelligence® platform does not currently support assessment of somatic mutations.

The Genomic Intelligence® platform is sequencer agnostic. Most of our customers perform sequencing on Illumina or Ion Torrent machines.

Yes. Our content specialists can work with you to identify the most clinically relevant genes for your desired assay.

Yes. As a CLIA certified, CAP accredited lab that has processed thousands of samples we have extensive expertise working with control, known positive and known negative samples for calculation of sensitivity, specificity and positive predictive value for a wide variety of testing applications. Utilizing our expertise and unique library of samples significantly streamlines the validation process.

Our technical specialists will set up your custom assay within the Genomic Intelligence® platform based on the genomic regions of interest (specified by BED file), relevant splicing thresholds and initial filtration settings. Selected control samples are sequenced by you and uploaded to the platform where secondary (analytical) validation is performed by our specialists. Similarly, selected known positive and known negative samples are sequenced by you and uploaded to the platform where tertiary (clinical) validation is performed by our specialists. A full validation report, including calculation of sensitivity, specificity and positive predictive value for relevant variant types is provided.

The Genomic Intelligence® platform generates white-labeled clinical reports, customized to your lab's needs. Please contact us for a sample, white-labeled report.

Yes. As a CLIA certified, CAP accredited lab that has processed thousands of samples we have clinical and molecular geneticists on staff who are able to interpret your data, generate and sign a clinical report that can be directly provided to your customer.

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