《AmericanJournalofHumanGenetics》期刊第71页172条数据 

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88.《Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting》

genetics_thesis/040006114339.html

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89.《Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy》

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90.《Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis》

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91.《Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the Brain》

genetics_thesis/040006114342.html

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92.《Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly》

genetics_thesis/040006114343.html

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93.《Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network》

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94.《Redefining the Etiologic Landscape of Cerebellar Malformations》

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95.《Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype》

genetics_thesis/040006114346.html

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96.《Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders》

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97.《De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies》

genetics_thesis/040006114349.html

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98.《Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma》

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99.《A Multi-tissue Transcriptome Analysis of Human Metabolites Guides

Interpretability of Associations Based on Multi-SNP Models for Gene Expression》

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100.《Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism》

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101.《This Month in The Journal》

genetics_thesis/040006114353.html

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102.《Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population》

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103.《Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval》

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104.《Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement》

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105.《Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data》

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106.《Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent》

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107.《Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1》

genetics_thesis/040006114473.html

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108.《Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature》

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109.《Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population》

genetics_thesis/040006114475.html

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110.《Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data》

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111.《The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals》

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112.《Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer》

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113.《A Genocentric Approach to Discovery of Mendelian Disorders》

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114.《Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment》

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115.《Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy》

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116.《Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders》

genetics_thesis/040006114482.html

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117.《Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome》

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118.《Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia》

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119.《De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry》

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120.《RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature》

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121.《Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder》

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122.《Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level》

genetics_thesis/040006114488.html

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123.《Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology》

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124.《Systematic Functional Interrogation of Genes in GWAS Loci Identified ATF1 as a Key Driver in Colorectal Cancer Modulated by a Promoter-Enhancer Interaction》

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125.《Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy》

genetics_thesis/040006114492.html

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126.《Genes for Good: Engaging the Public in Genetics Research via Social Media》

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127.《Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver》

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128.《RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities》

genetics_thesis/040006114496.html

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129.《Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior》

genetics_thesis/040006114497.html

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130.《The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance》

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131.《Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS》