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132.《Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders》
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133.《Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project》
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134.《Public Discussion Affects Question Asking at Academic Conferences》
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135.《Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia》
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136.《De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders》
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137.《NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice》
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138.《Genomic Medicine Year in Review: 2019》
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139.《Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy》
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140.《TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands》
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141.《Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage》
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142.《A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease》
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143.《TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities》
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144.《Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility》
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145.《Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice》
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146.《A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank》
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147.《Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology》
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148.《Making the Most of Clumping and Thresholding for Polygenic Scores》
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149.《Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2》
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150.《Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction》
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151.《Identification of African-Specific Admixture between Modern and Archaic Humans》
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152.《Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis》
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153.《Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders》
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154.《CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations》
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155.《Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia》
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156.《Genes with High Network Connectivity Are Enriched for Disease Heritability》
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157.《Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms》
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158.《HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans》
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159.《A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy》
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160.《Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with
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161.《The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research》
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162.《On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations》
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163.《Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease》
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164.《Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification》
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165.《Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome》
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166.《Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity》
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167.《Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland》
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168.《Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population》
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169.《Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy》
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170.《Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome》
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171.《Germline-Activating RRAS2 Mutations Cause Noonan Syndrome》
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172.《Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation》
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