Publications that were facilitated by analysis using ATAV

2016

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

2015

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

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

2013

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

2012

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