1.
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
by Smoller, J.W
The Lancet (British edition), 2013, Vol.381 (9875), p.1371-1379
2.
Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
by Peloso, Gina M
American journal of human genetics, 2014-02-06, Vol.94 (2), p.223-232
3.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism
by Miraoui, Hichem
American journal of human genetics, 2013-05-02, Vol.92 (5), p.725-743
4.
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
by Bogliolo, Massimo
American journal of human genetics, 2013-05-02, Vol.92 (5), p.800-806
5.
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
by Rutsch, Frank
American journal of human genetics, 2015-02-05, Vol.96 (2), p.275-282
6.
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
by McMillin, Margaret J
American journal of human genetics, 2014-05-01, Vol.94 (5), p.734-744
7.
Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
by Jang, Mi-Ae
American journal of human genetics, 2015-02-05, Vol.96 (2), p.266-274
8.
Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia
by Ntziachristos, Panagiotis
Nature medicine, 2012-02-06, Vol.18 (2), p.298-302
9.
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
by Jiang, Yong-hui
American journal of human genetics, 2013-08-08, Vol.93 (2), p.249-263
10.
Messenger RNA Degradation in Bacterial Cells
by Hui, Monica P
Annual review of genetics, 2014-11-23, Vol.48 (1), p.537-559
11.
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
by Schmidt, Ellen M
American journal of human genetics, 2014-02-06, Vol.94 (2), p.233-245
12.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M
American journal of human genetics, 2016-06-02, Vol.98 (6), p.1067-1076
13.
Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH
by Shaheen, Ranad
American journal of human genetics, 2014-06-05, Vol.94 (6), p.898-904
14.
DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex
by Numata, Shusuke
American journal of human genetics, 2012-02-10, Vol.90 (2), p.260-272
15.
IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies
by Leborgne, Christian
Nature Medicine, 2020-07, Vol.26 (7), p.1096-1101
16.
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
by Pingault, Veronique
American journal of human genetics, 2013-05-02, Vol.92 (5), p.707-724
17.
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants
by Razavi, Pedram
Nature medicine, 2019-12, Vol.25 (12), p.1928-1937
18.
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
by Kashiyama, Kazuya
American journal of human genetics, 2013-05-02, Vol.92 (5), p.807-819
19.
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
by Tran-Viet, Khanh-Nhat
American journal of human genetics, 2013-05-02, Vol.92 (5), p.820-826
20.
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
by Bhatia, Shipra
American journal of human genetics, 2013-12-05, Vol.93 (6), p.1126-1134
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