Publications that were facilitated by analysis using ATAV


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.


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.