Publications that were facilitated by analysis using ATAV


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.


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.
h3. 2017

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).

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.

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.

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.

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.

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.

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).;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.

Halvorsen, Matt, et al. "Mosaic mutations in early-onset genetic diseases."Genetics in Medicine (2015).

Petrovski, Slavé, et al. "The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity." PLoS Genet 11.9 (2015): e1005492.

Petrovski, Slavé, et al. "Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition." Molecular Case Studies 1.1 (2015): 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.

Dobbs, Kerry, et al. "DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections." The New England journal of medicine 372.25 (2015): 2409.

Zhu, Xiaolin, et al. "Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios." Genetics in Medicine (2015).

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.

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.

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.

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.


Mousallem, Talal, et al. "A nonsense mutation in IKBKB causes combined immunodeficiency." Blood 124.13 (2014): 2046-2050.

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.

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.

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.


Phenome, Epilepsy, and Epi4K Consortium. "De novo mutations in epileptic encephalopathies." Nature 501.7466 (2013): 217-221.

Ruzzo, Elizabeth K., et al. "Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy." Neuron80.2 (2013): 429-441.

Hitomi, Yuki, et al. "Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy." Annals of neurology 74.3 (2013): 496-501.


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.

González-Pérez, Paloma, et al. "Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis." Neurology 79.22 (2012): 2201-2208.

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.

Wu, Chi-Hong, et al. "Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis." Nature 488.7412 (2012): 499-503.

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.

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.