[PDF][PDF] Microdeletions of 3q29 confer high risk for schizophrenia

…, JA McGrath, PS Wolyniec, AA Mitchell… - The American Journal of …, 2010 - cell.com
Schizophrenia (SZ) is a severe psychiatric illness that affects ∼1% of the population and has
a strong genetic underpinning. Recently, genome-wide analysis of copy-number variation (…

[HTML][HTML] A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci

…, I Pe'er, A Karban, L Ozelius, AA Mitchell… - PLoS …, 2012 - journals.plos.org
Crohn's disease (CD) is a complex disorder resulting from the interaction of intestinal
microbiota with the host immune system in genetically susceptible individuals. The largest meta-…

[HTML][HTML] Design of a randomized, placebo-controlled, phase 3 trial of tofersen initiated in clinically presymptomatic SOD1 variant carriers: the ATLAS study

…, NA Farahany, EA Harrington, W Chen, AA Mitchell… - …, 2022 - Elsevier
Despite extensive research, amyotrophic lateral sclerosis (ALS) remains a progressive and
invariably fatal neurodegenerative disease. Limited knowledge of the underlying causes of …

Prediction of eye and skin color in diverse populations using seven SNPs

O Spichenok, ZM Budimlija, AA Mitchell, A Jenny… - Forensic Science …, 2011 - Elsevier
An essential component in identifying human remains is the documentation of the
decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is …

[PDF][PDF] Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test

AA Mitchell, DJ Cutler, A Chakravarti - The American Journal of Human …, 2003 - cell.com
The transmission/disequilibrium test (TDT), a family-based test of linkage and association, is
a popular and intuitive statistical test for studies of complex inheritance, as it is …

[PDF][PDF] Common variant burden contributes to the familial aggregation of migraine in 1,589 families

…, ME Hiekkala, K Veerapen, P Häppölä, AA Mitchell… - Neuron, 2018 - cell.com
Complex traits, including migraine, often aggregate in families, but the underlying genetic
architecture behind this is not well understood. The aggregation could be explained by rare, …

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths

…, SY Um, LS Eng, BO Zhou, Y Lin, AA Mitchell… - Forensic science …, 2014 - Elsevier
Sudden unexplained deaths (SUD) in apparently healthy individuals, for which the causes
of deaths remained undetermined after comprehensive forensic investigations and autopsy, …

Association between the Tumor Necrosis Factor Locus and the Clinical Outcome of Leishmania chagasi Infection

…, BK Helms, TL Burns, JC Murray, AA Mitchell… - Infection and …, 2002 - Am Soc Microbiol
A periurban outbreak of visceral leishmaniasis (VL) caused by the protozoan Leishmania
chagasi is ongoing outside Natal, northeast Brazil. Manifestations range from asymptomatic …

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11. 23 is associated with schizophrenia

…, PV Gejman, AR Sanders, J Duan, AA Mitchell… - Biological …, 2014 - Elsevier
Background Several copy number variants (CNVs) have been implicated as susceptibility
factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism …

Validation of a DNA mixture statistics tool incorporating allelic drop-out and drop-in

AA Mitchell, J Tamariz, K O'Connell, N Ducasse… - Forensic Science …, 2012 - Elsevier
DNA mixture analysis is a current topic of discussion in the forensics literature. Of particular
interest is how to approach mixtures where allelic drop-out and/or drop-in may have occurred…