1.
Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of fi...
by Kezic, Sanja, PhD
Journal of allergy and clinical immunology, 2012, Vol.129 (4), p.1031-1039.e1
2.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
by Coban-Akdemir, Zeynep
American journal of human genetics, 2018-08-02, Vol.103 (2), p.171-187
3.
Sequence Capture versus Restriction Site Associated DNA Sequencing for Shallow Systematics
by Harvey, Michael G
Systematic biology, 2016-09-01, Vol.65 (5), p.910-924
4.
Alpha-1-antitrypsin ( SERPINA1 ) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal
by Silva, Deolinda
Respiratory medicine, 2016, Vol.116, p.8-18
5.
A CRISPR-Cas9 gene drive targeting doublesex causes complete population suppression in caged Anopheles gambiae mosquitoes
by Kyrou, Kyros
Nature biotechnology, 2018-12, Vol.36 (11), p.1062-1066
6.
Rosiglitazone Monotherapy in Mild-to-Moderate Alzheimer’s Disease: Results from a Randomized, Double-Blind, Placebo-Controlled Phase III Study
by Gold, Michael
Dementia and geriatric cognitive disorders, 2010-09, Vol.30 (2), p.131-146
7.
Simultaneous editing of three homoeoalleles in hexaploid bread wheat confers heritable resistance to powdery mildew
by Wang, Yanpeng
Nature biotechnology, 2014-09, Vol.32 (9), p.947-951
8.
Understanding and exploiting late blight resistance in the age of effectors
by Vleeshouwers, V.G.A.A
Annual review of phytopathology, 2011, Vol.49 (1), p.507-531
9.
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
by DeJesus-Hernandez, Mariely
Neuron (Cambridge, Mass.), 2011-10-20, Vol.72 (2), p.245-256
10.
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
by Renton, Alan E
Neuron (Cambridge, Mass.), 2011-10-20, Vol.72 (2), p.257-268
11.
DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis
by Henricks, Linda M
The lancet oncology, 2018-11, Vol.19 (11), p.1459-1467
12.
Human genetic variation database, a reference database of genetic variations in the Japanese population
by Higasa, Koichiro
Journal of human genetics, 2016-06, Vol.61 (6), p.547-553
13.
NRT1.1B is associated with root microbiota composition and nitrogen use in field-grown rice
by Zhang, Jingying
Nature biotechnology, 2019-06, Vol.37 (6), p.676-684
14.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
by Stephens, Jonathan
American journal of human genetics, 2017-01-05, Vol.100 (1), p.75-90
15.
Interferon-induced transmembrane protein-3 rs12252-C is associated with rapid progression of acute HIV-1 infection in Chinese MSM cohort
by Zhang, Yonghong
AIDS (London), 2015-05-15, Vol.29 (8), p.889-894
16.
Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients
by Siravegna, Giulia
Nature medicine, 2015-07, Vol.21 (7), p.795-801
17.
Detecting Natural Selection in Genomic Data
by Vitti, Joseph J
Annual review of genetics, 2013-11-23, Vol.47 (1), p.97-120
18.
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
by Tang, Shuyan
American journal of human genetics, 2017-06-01, Vol.100 (6), p.854-864
19.
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study
by Cleynen, Isabelle, PhD
The Lancet (British edition), 2016, Vol.387 (10014), p.156-167
20.
Inferring Phylogeny and Introgression using RADseq Data: An Example from Flowering Plants (Pedicularis: Orobanchaceae)
by Eaton, Deren A. R
Systematic biology, 2013-09-01, Vol.62 (5), p.689-706
