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Publications
Ren, Z., Povysil, G., Hostyk, J.A. et al. ATAV: a comprehensive platform for population-scale genomic analyses. BMC Bioinformatics 22, 149 (2021). https://doi.org/10.1186/s12859-021-04071-1
Alkelai A, Greenbaum L, Shohat S, Povysil G, Malakar A, Ren Z, Motelow JE, Schechter T, Draiman B, Chitrit-Raveh E, Hughes D, Jobanputra V, Shifman S, Goldstein DB, Kohn Y. Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing. Schizophr Res. 2023 Jan 14;252:138-145. doi: 10.1016/j.schres.2022.12.033. Epub ahead of print. PMID: 36645932.
Rosain, J., Neehus, A. L., Manry, J., Yang, R., Le Pen, J., Daher, W., ... & Bustamante, J. (2023). Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria. Cell, 186(3), 621-645.
Motelow JE, Lippa NC, Hostyk J, Feldman E, Nelligan M, Ren Z, Alkelai A, Milner JD, Gharavi AG, Tang Y, Goldstein DB, Kernie SG. Risk Variants in the Exomes of Children With Critical Illness. JAMA Netw Open. 2022 Oct 3;5(10):e2239122. doi: 10.1001/jamanetworkopen.2022.39122. PMID: 36306130; PMCID: PMC9617179.
Erjavec SO, Gelfman S, Abdelaziz AR, Lee EY, Alkelai A, Ionita-Laza I, Goldstein DB, Petukhova LM, Christiano AM. Whole exome sequencing in Alopecia Areata identifies rare mutations in KRT82. Accepted to Nature Communications.
Green, T., Motelow, J.E., Bennet, M., Ye, Z., Griffin, N., Damiano, J., Bennet, C., Leventer, R., Freeman, J., Harvey, S., Lockhart, P., Sadleir, L., Scheffer, I., Boys, A., Major, H., Darbro, B., Bahlo, M., Goldstein, D., Kerrigan, J., Heinzen, E., Berkovic, S., Hildebrand, M. Sporadic Hypothalamic Hamartoma is a Ciliopathy with Somatic and Bi-Allelic Contributions. Human Molecular Genetics. In press
Koko, M., Motelow, J.E., Stanley, K.E., Bobbili, D.R., Dhindsa, R.S., May, P.; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium. Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. Epilepsia. 2022 Jan 15. doi: 10.1111/epi.17166. Epub ahead of print. PMID: 35032048.
Zhang, D., Povysil, G., Kobeissy, P. H., Li, Q., Wang, B., Amelotte, M., ... & Garcia, C. K. (2022). Rare and common variants in KIF15 contribute to genetic risk of idiopathic pulmonary fibrosis. American journal of respiratory and critical care medicine, 206(1), 56-69.
Alkelai, A., Greenbaum, L., Docherty, A. R., Shabalin, A. A., Povysil, G., Malakar, A., ... & Goldstein, D. B. (2022). The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders. Molecular Psychiatry, 27(3), 1435-1447.
Zhang, D., Newton, C. A., Wang, B., Povysil, G., Noth, I., Martinez, F. J., ... & Garcia, C. K. (2022). Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis. European Respiratory Journal, 60(6).
Cohen, A., Hostyk, J., Baugh, E. H., Buchovecky, C. M., Aggarwal, V. S., Recker, R. R., ... & Shane, E. (2022). Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. Bone, 154, 116253.
Perucca, P., Stanley, K., Harris, N., McIntosh, A. M., Asadi‐Pooya, A. A., Mikati, M. A., ... & Zuberi, S. (2022). Rare genetic variation and outcome of surgery for mesial temporal lobe epilepsy. Annals of Neurology.
Lippa, N., Bier, L., Revah-Politi, A., May, H., Kushary, S., Vena, N., ... & Goldstein, D. B. (2022). Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genetics in Medicine, 24(4), 862-869.
Kong, X. F., Bogyo, K., Kapoor, S., Groopman, E. E., Cocchi, E., Rasouly, H. M., ... & Gharavi, A. G. (2022). Whole exome sequencing in the diagnosis of liver diseases. medRxiv, 2022-06.
Zoghbi, A.W., Dhindsa, R.S., Goldberg, T.E., Mehralizade, A., Motelow, J.E., Wang, X., Alkelai, A., Harms, M.B., Lieberman, J.A., Markx, S., Goldstein, D.B., 2021. High impact rare genetic variants in severe schizophrenia, Proc Natl Acad Sci USA. 2021 Dec 21;118(51):e2112560118. doi: 10.1073/pnas.2112560118. PMID: 34903660.
Alkelai A, Greenbaum L, Docherty AR, Shabalin AA, Povysil G, Malakar A, Hughes D, , Delaney SL, Peabody EP, McNamara J, Sahar Gelfman, Baugh EH, Zoghbi AW, Harms MB, Hwang HS, Grossman-Jonish A, Aggarwal V, Jobanputra V, Heinzen EL, Lerer B, Pulver AE, Goldstein DB. The Benefit of Diagnostic Whole Genome Sequencing in Schizophrenia and Other Psychotic Disorders. Molecular Psychiatry. 2021 Nov 19. doi: 10.1038/s41380-021-01383-9. Online ahead of print.
Epi25 Consortium. 2021. Sub-Genic Intolerance, ClinVar and the Epilepsies: A Whole Exome Sequencing Study of 29,165 Individuals. Am J Hum Genet. Apr 28:S0002-9297(21)00140-3.
Alkelai A, Shohat S, Hughes D, Heinzen EL, Shifman S, Kohn Y, Goldstein DB. Expansion of the GRIA2 phenotypic representation: a novel de-novo loss of function mutation in a case with childhood onset schizophrenia. J Hum Genet. 2021 Mar;66(3):339-343.
Epilepsy Genetics Initiative, et al. "The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield." Epilepsia 60.5 (2019): 797-806.
Cameron-Christie, Sophia, et al. "Exome-Based Rare-Variant Analyses in CKD." Journal of the American Society of Nephrology (2019): ASN-2018090909.
Gelfman, Sahar, et al. "A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS." Genome research 29.5 (2019): 809-818.
Petrovski, Slavé, et al. "Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study." The Lancet 393.10173 (2019): 758-767.
Groopman, Emily E., et al. "Diagnostic utility of exome sequencing for kidney disease." New England Journal of Medicine 380.2 (2019): 142-151.
Rasouly, Hila Milo, et al. "The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing." Annals of internal medicine 170.1 (2019): 11-21.
Wolock, Charles J., et al. "A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants." Genetics in Medicine (2019): 1.
Kleinstein, Sarah E., et al. "Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD." Hepatology communications 2.9 (2018): 1021-1029.
Alkelai A, et al. New insights into tardive dyskinesia genetics: implementation of whole exome sequencing approach. Prog Neuropsychopharmacol Biol Psychiatry. 2019 Aug 30;94:109659.
Myers CT, et al. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. American Journal of Human Genetics. 2017; 101 (4), pg 516-524
Revah-Politi A, et al. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: a four patient series. American Journal of Medical Genetics: Part A. 2017 (doi:10.1002/ajmg.a.38460).
Gelfman S, et al. Annotating pathogenic non-coding variants in genic regions. Nature Communications. 2017 (doi:10.1038/s41467-017-00141-2).
Epilepsy Genetics Initiative. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. Genetics in Medicine. 2017 (doi:10.1038/gim.2017.100).
Petrovski S, et al. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. Am J Respir Crit Care Med. 2017; Jul 1;196(1): 82-93.
Epi4K Consortium, et al. Application of Rare Variant Transmission-Disequilibrium Tests to Epileptic Encephalopathy Trio Sequence Data. European Journal of Human Genetics 2017; 25, 894–899.
Epi4K Consortium & Epilepsy Phenome/Genome Project. Ultra-rare genetic variation in the common epilepsies: a case-control sequencing study. Lancet Neurology 2017, Volume 16, No. 2, p135–143.
Need AC, et al. The Importance of Dynamic Reanalysis In Diagnostic Whole Exome Sequencing. J Med Genet doi:10.1136/jmedgenet-2016-104306.
Shashi, Vandana, et al. "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype." The American Journal of Human Genetics (2016). http://www.cell.com/ajhg/abstract/S0002-9297(16)30371-8
Kim, Jung-Hyun, et al. "De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome." The American Journal of Human Genetics99.3 (2016): 711-719. http://www.cell.com/ajhg/abstract/S0002-9297(16)30267-1
Heimer, Gali, et al. "TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability." European Journal of Paediatric Neurology 20.1 (2016): 69-79. http://www.ejpn-journal.com/article/S1090-3798(15)00177-4/
Petrovski, Slavé, and David B. Goldstein. "Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine." Genome Biology 17.1 (2016): 157. https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1016-y
Petrovski, Slavé, et al. "Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature." Journal of clinical immunology 36.5 (2016): 462-471. http://link.springer.com/article/10.1007%2Fs10875-016-0281-6
Petrovski, Slavé, et al. "Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures." The American Journal of Human Genetics 98.5 (2016): 1001-1010. http://www.cell.com/ajhg/abstract/S0002-9297(16)30046-5
Bagnall, Richard D., et al. "Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy." Annals of neurology (2016). http://onlinelibrary.wiley.com/doi/10.1002/ana.24596/abstract;jsessionid=CBBA4BB165B2F6F48C864FAC10A65A85.f03t03
Cirulli, Elizabeth T., et al. "Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways." Science 347.6229 (2015): 1436-1441. http://science.sciencemag.org/content/347/6229/1436
Halvorsen, Matt, et al. "Mosaic mutations in early-onset genetic diseases."Genetics in Medicine (2015). http://www.nature.com/gim/journal/v18/n7/full/gim2015155a.html
Petrovski, Slavé, et al. "The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity." PLoS Genet 11.9 (2015): e1005492. http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005492
Petrovski, Slavé, et al. "Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition." Molecular Case Studies 1.1 (2015): a000257. http://molecularcasestudies.cshlp.org/content/1/1/a000257
Shashi, Vandana, et al. "Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing." Molecular Case Studies 1.1 (2015): a000265. http://molecularcasestudies.cshlp.org/content/1/1/a000265.full.pdf
Dobbs, Kerry, et al. "DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections." The New England journal of medicine 372.25 (2015): 2409. http://www.nejm.org/doi/full/10.1056/NEJMoa1413462
Zhu, Xiaolin, et al. "Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios." Genetics in Medicine (2015). http://www.nature.com/gim/journal/v17/n10/full/gim2014191a.html
Kleinstein, Sarah E., et al. "Whole-Genome Sequencing of Patients Achieving Hepatitis B Virus Serum Antigen Loss Following TDF Treatment."HEPATOLOGY. Vol. 62. 111 RIVER ST, HOBOKEN 07030-5774, NJ USA: WILEY-BLACKWELL, 2015. http://liverlearning.aasld.org/aasld/2015/thelivermeeting/111281/sarah.kleinstein.whole-genome.sequencing.of.patients.achieving.hepatitis.b.html
Heimer, G., et al. "SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum."Clinical genetics 88.4 (2015): 327-335. http://onlinelibrary.wiley.com/doi/10.1111/cge.12637/abstract
Shashi, V., et al. "The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome." Clinical genetics 88.4 (2015): 386-390. http://onlinelibrary.wiley.com/doi/10.1111/cge.12511/abstract
Mousallem, Talal, et al. "Clinical application of whole-genome sequencing in patients with primary immunodeficiency." Journal of Allergy and Clinical Immunology 136.2 (2015): 476-479. http://www.sciencedirect.com/science/article/pii/S0091674915004285
h3. 2014
Mousallem, Talal, et al. "A nonsense mutation in IKBKB causes combined immunodeficiency." Blood 124.13 (2014): 2046-2050. http://www.bloodjournal.org/content/124/13/2046?sso-checked=true
Todd, J. L., et al. "Whole Exome Sequencing: A Novel Strategy to Understand Chronic Lung Allograft Dysfunction (CLAD)." The Journal of Heart and Lung Transplantation 33.4 (2014): S140. http://www.jhltonline.org/article/S1053-2498(14)00391-X/abstract
Urban, Thomas J., et al. "Whole Exome Sequencing of Extreme Phenotypes of NAFLD Identifies Potential Genetic Risk Factors for Advanced Hepatic Fibrosis." HEPATOLOGY. Vol. 60. 111 RIVER ST, HOBOKEN 07030-5774, NJ USA: WILEY-BLACKWELL, 2014. http://liverlearning.aasld.org/aasld/2014/thelivermeeting/61166/thomas.urban.whole.exome.sequencing.of.extreme.phenotypes.of.nafld.identifies.html
Phenome, Epilepsy, EuroEPINOMICS-RES Consortium, and Epi4K Consortium. "De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies." The American Journal of Human Genetics 95.4 (2014): 360-370. http://www.sciencedirect.com/science/article/pii/S0002929714003838
Phenome, Epilepsy, and Epi4K Consortium. "De novo mutations in epileptic encephalopathies." Nature 501.7466 (2013): 217-221. http://www.nature.com/nature/journal/v501/n7466/full/nature12439.html
Ruzzo, Elizabeth K., et al. "Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy." Neuron80.2 (2013): 429-441. http://www.sciencedirect.com/science/article/pii/S0896627313007472
Hitomi, Yuki, et al. "Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy." Annals of neurology 74.3 (2013): 496-501. http://onlinelibrary.wiley.com/doi/10.1002/ana.23934/abstract
Oz-Levi, Danit, et al. "Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis." The American Journal of Human Genetics91.6 (2012): 1065-1072. http://www.sciencedirect.com/science/article/pii/S000292971200523X
González-Pérez, Paloma, et al. "Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis." Neurology 79.22 (2012): 2201-2208. http://www.neurology.org/content/79/22/2201
Urban, Thomas J., et al. "Whole-exome sequencing identifies rare genetic variants that may contribute to isoniazid (INH)-induced liver injury."HEPATOLOGY. Vol. 56. 111 RIVER ST, HOBOKEN 07030-5774, NJ USA: WILEY-BLACKWELL, 2012. http://liverlearning.aasld.org/aasld/2012/thelivermeeting/23365/thomas.urban.whole-exome.sequencing.identifies.rare.genetic.variants.that.may.html?f=p16m2t1401
Wu, Chi-Hong, et al. "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis." Nature 488.7412 (2012): 499-503. http://www.nature.com/nature/journal/v488/n7412/full/nature11280.html
Need, Anna C., et al. "Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia." The American Journal of Human Genetics 91.2 (2012): 303-312. http://www.sciencedirect.com/science/article/pii/S000292971200362X
Heinzen, Erin L., et al. "Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy." The American Journal of Human Genetics 91.2 (2012): 293-302. http://www.sciencedirect.com/science/article/pii/S0002929712003254