1.
CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations
by Hawkes, Colin Patrick
The journal of clinical endocrinology and metabolism, 2017-05-01, Vol.102 (5), p.1440-1446
2.
Phasing of Many Thousands of Genotyped Samples
by Williams, Amy L
American journal of human genetics, 2012-08-10, Vol.91 (2), p.238-251
3.
From schizophrenia risk locus to schizophrenia genes
by Sleiman, Patrick
Nature medicine, 2016-06-07, Vol.22 (6), p.583-584
4.
Application of ACMG criteria to classify variants in the human gene mutation database
by Qu, Hui-Qi
Journal of human genetics, 2019-11, Vol.64 (11), p.1091-1095
5.
Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease
by Wei, Zhi
American journal of human genetics, 2013-06-06, Vol.92 (6), p.1008-1012
6.
Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies
by Wang, Kai
American journal of human genetics, 2010-05-14, Vol.86 (5), p.730-742
7.
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
by Chen, Rong
Nature biotechnology, 2016-05, Vol.34 (5), p.531-538
8.
Identification of ALK as a major familial neuroblastoma predisposition gene
by MOSSK, Yaël P
Nature (London), 2008, Vol.455 (7215), p.930-935
9.
Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma
by Hysinger, Erik B., MD
Journal of allergy and clinical immunology, 2016, Vol.138 (6), p.1747-1749.e4
10.
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
by Li, Dong
The journal of clinical endocrinology and metabolism, 2017-05-01, Vol.102 (5), p.1726-1733
11.
Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization
by Li, Dong
The journal of clinical endocrinology and metabolism, 2014-09, Vol.99 (9), p.E1774-E1783
12.
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor
by Li, Dong
Nature medicine, 2019-07, Vol.25 (7), p.1116-1122
13.
RAD21 Mutations Cause a Human Cohesinopathy
by Deardorff, Matthew A
American journal of human genetics, 2012-06-08, Vol.90 (6), p.1014-1027
14.
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
by Martignetti, John A
American journal of human genetics, 2013-06-06, Vol.92 (6), p.1001-1007
15.
genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
by HAKONARSON, Hakon
Nature, 2007, Vol.448 (7153), p.591-594
16.
The Added Value of Family Material in the Discovery of Multiple Sclerosis Genes
by Hain, Heather S
Neuron (Cambridge, Mass.), 2016-06-01, Vol.90 (5), p.905-906
17.
Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q
by Pinney, Sara E
Hormone research in paediatrics, 2013-08, Vol.80 (1), p.18-27
18.
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism
by Netter, Petra, PhD
Journal of allergy and clinical immunology, 2016, Vol.138 (2), p.599-601.e3
19.
Copy number variation at 1q21.1 associated with neuroblastoma
by DISKIN, Sharon J
Nature (London), 2009, Vol.459 (7249), p.987-991
20.
Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease
by Wang, Kai
American journal of human genetics, 2009, Vol.84 (3), p.399-405
