|Uncovering the roles of rare variants in common disease through whole-genome sequencing|
ET Cirulli, DB Goldstein
Nature Reviews Genetics 11 (6), 415-425, 2010
|Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways|
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ...
Science 347 (6229), 1436-1441, 2015
|Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis|
CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp, K Piotrowska, P Lowe, ...
Nature 488 (7412), 499-503, 2012
|Common genetic variation and the control of HIV-1 in humans|
J Fellay, D Ge, KV Shianna, S Colombo, B Ledergerber, ET Cirulli, ...
PLoS genetics 5 (12), 2009
|Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions|
MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ...
New England Journal of Medicine 366 (4), 330-338, 2012
|Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence|
JE Savage, PR Jansen, S Stringer, K Watanabe, J Bryois, CA De Leeuw, ...
Nature genetics 50 (7), 912-919, 2018
|Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene|
NLM Sobreira, ET Cirulli, D Avramopoulos, E Wohler, GL Oswald, ...
PLoS genetics 6 (6), 2010
|The characterization of twenty sequenced human genomes|
K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ...
PLoS genetics 6 (9), 2010
|A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB|
AC Need, DK Attix, JM McEvoy, ET Cirulli, KL Linney, P Hunt, D Ge, ...
Human molecular genetics 18 (23), 4650-4661, 2009
|Screening the human exome: a comparison of whole genome and whole transcriptome sequencing|
ET Cirulli, A Singh, KV Shianna, D Ge, JP Smith, JM Maia, EL Heinzen, ...
Genome biology 11 (5), R57, 2010
|Genome-wide analyses identify KIF5A as a novel ALS gene|
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
|Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function|
Y Hitomi, ET Cirulli, J Fellay, JG McHutchison, AJ Thompson, CE Gumbs, ...
Gastroenterology 140 (4), 1314-1321, 2011
|GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium|
JW Trampush, MLZ Yang, J Yu, E Knowles, G Davies, DC Liewald, ...
Molecular psychiatry 22 (3), 336-345, 2017
|Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function|
G Davies, M Lam, SE Harris, JW Trampush, M Luciano, WD Hill, ...
Nature communications 9 (1), 1-16, 2018
|Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy|
EL Heinzen, C Depondt, GL Cavalleri, EK Ruzzo, NM Walley, AC Need, ...
The American Journal of Human Genetics 91 (2), 293-302, 2012
|Common genetic variation and performance on standardized cognitive tests|
ET Cirulli, D Kasperavičiūtė, DK Attix, AC Need, D Ge, G Gibson, ...
European Journal of Human Genetics 18 (7), 815-820, 2010
|Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia|
AC Need, JP McEvoy, M Gennarelli, EL Heinzen, D Ge, JM Maia, ...
The American Journal of Human Genetics 91 (2), 303-312, 2012
|Association of liver injury from specific drugs, or groups of drugs, with polymorphisms in HLA and other genes in a genome-wide association study|
P Nicoletti, GP Aithal, ES Bjornsson, RJ Andrade, A Sawle, M Arrese, ...
Gastroenterology 152 (5), 1078-1089, 2017
|A comparison of the Cambridge Automated Neuropsychological Test Battery (CANTAB) with “traditional” neuropsychological testing instruments|
PJ Smith, AC Need, ET Cirulli, O Chiba-Falek, DK Attix
Journal of clinical and experimental neuropsychology 35 (3), 319-328, 2013
|In vitro assays fail to predict in vivo effects of regulatory polymorphisms|
ET Cirulli, DB Goldstein
Human Molecular Genetics 16 (16), 1931-1939, 2007