1.
Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector : Short-Term Results of a Phase I Trial
by HAUSWIRTH, William W
Human gene therapy, 2008, Vol.19 (10), p.979-990
2.
Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
by Zhang, Yu, PhD
Journal of allergy and clinical immunology, 2014, Vol.133 (5), p.1400-1409.e5
3.
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
by Abdel-Rahman, Mohamed H
Journal of medical genetics, 2011-12, Vol.48 (12), p.856-859
4.
Hypomorphic homozygous mutations in phosphoglucomutase 3 ( PGM3 ) impair immunity and increase serum IgE levels
by Sassi, Atfa, PhD
Journal of allergy and clinical immunology, 2014, Vol.133 (5), p.1410-1419.e13
5.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
by Groza, Tudor
American journal of human genetics, 2015-07-02, Vol.97 (1), p.111-124
6.
Clinical application of exome sequencing in undiagnosed genetic conditions
by Need, Anna C
Journal of medical genetics, 2012-06, Vol.49 (6), p.353-361
7.
Therapeutics Based on Stop Codon Readthrough
by Keeling, Kim M
Annual review of genomics and human genetics, 2014-08-31, Vol.15 (1), p.371-394
8.
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
9.
Rare inherited kidney diseases: challenges, opportunities, and perspectives
by Devuyst, Olivier, Prof
The Lancet (British edition), 2014, Vol.383 (9931), p.1844-1859
10.
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
by Zhang, Jinglan
Nature medicine, 2019-03, Vol.25 (3), p.439-447
11.
CRISPR/Cas9-mediated gene editing in human zygotes using Cas9 protein
by Tang, Lichun
Molecular genetics and genomics : MGG, 2017-03-01, Vol.292 (3), p.525-533
12.
PTC124 targets genetic disorders caused by nonsense mutations
by Chen, Guangming
Nature, 2007-05-03, Vol.447 (7140), p.87-91
13.
General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies
by Lee, Seunggeun
American journal of human genetics, 2013-07-11, Vol.93 (1), p.42-53
14.
Human Genome Sequencing in Health and Disease
by Gonzaga-Jauregui, Claudia
Annual review of medicine, 2012-02-18, Vol.63 (1), p.35-61
15.
A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
by Janssens, A. Cecile J.W
American journal of human genetics, 2008, Vol.82 (3), p.593-599
16.
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders
by Shashi, Vandana
Genetics in medicine, 2014-02, Vol.16 (2), p.176-182
17.
Hereditary myopathy with early respiratory failure: occurrence in various populations
by Palmio, Johanna
Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.345-353
18.
Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes
by Handyside, Alan H
Journal of medical genetics, 2010-10, Vol.47 (10), p.651-658
19.
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
by Trynka, Gosia
American journal of human genetics, 2014-11-06, Vol.95 (5), p.535-552
20.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
by Boycott, Kym
Journal of medical genetics, 2015-07, Vol.52 (7), p.431-437
