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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
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Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates
by Piel, Frédéric B, Dr
The Lancet (British edition), 2013, Vol.381 (9861), p.142-151
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Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial
by Raal, Frederick J, Prof
The Lancet (British edition), 2015, Vol.385 (9965), p.341-350
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Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study
by Cuchel, Marina, Dr
The Lancet (British edition), 2013, Vol.381 (9860), p.40-46
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Absolute quantification of somatic DNA alterations in human cancer
by CARTER, Scott L
Nature biotechnology, 2012, Vol.30 (5), p.413-421
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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report
by Arboleda-Velasquez, Joseph F
Nature medicine, 2019-11, Vol.25 (11), p.1680-1683
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An RNAi therapeutic targeting antithrombin to rebalance the coagulation system and promote hemostasis in hemophilia
by Sehgal, Alfica
Nature medicine, 2015-05, Vol.21 (5), p.492-497
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
by Lesage, Suzanne
American journal of human genetics, 2016-03-03, Vol.98 (3), p.500-513
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Common genetic determinants of vitamin D insufficiency: a genome-wide association study
by Wang, Thomas J, MD
The Lancet (British edition), 2010, Vol.376 (9736), p.180-188
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A second generation human haplotype map of over 3.1 million SNPs
by Cox, David R
Nature, 2007-10-18, Vol.449 (7164), p.851-861
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Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse
by Dong, Frederick N
American journal of human genetics, 2018-04-05, Vol.102 (4), p.636-648
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CCR5-∆32 is deleterious in the homozygous state in humans
by Wei, Xinzhu
Nature medicine, 2019-06, Vol.25 (6), p.909-910
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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
by Ben Khelifa, Mariem
American journal of human genetics, 2014-01-02, Vol.94 (1), p.95-104
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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
by Lim, Elaine T
Neuron (Cambridge, Mass.), 2013-01-23, Vol.77 (2), p.235-242
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Gain of toxic apolipoprotein E4 effects in human iPSC-derived neurons is ameliorated by a small-molecule structure corrector
by Wang, Chengzhong
Nature medicine, 2018-05, Vol.24 (5), p.647-657
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A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells
by Mizushima, Noboru
Nature, 2008-11-13, Vol.456 (7219), p.259-263
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Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
by Xu, Yao
American journal of human genetics, 2016-09-01, Vol.99 (3), p.744-752
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Long Runs of Homozygosity Are Enriched for Deleterious Variation
by Szpiech, Zachary A
American journal of human genetics, 2013-07-11, Vol.93 (1), p.90-102
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Paraoxonase-1 is a major determinant of clopidogrel efficacy
by Bouman, Heleen J
Nature medicine, 2011-01, Vol.17 (1), p.110-U287
