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Mendelian Gene Discovery: Fast and Furious with No End in Sight.
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NGS for Sequence Variants.
Adv Exp Med Biol. 2016;939:1-20. doi: 10.1007/978-981-10-1503-8_1.
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Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
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Clinical application of next-generation sequencing for Mendelian diseases.
Hum Genomics. 2015 Jun 16;9(1):10. doi: 10.1186/s40246-015-0031-5.
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FMFilter: A fast model based variant filtering tool.
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Exploiting the potential of next-generation sequencing in genomic medicine.
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Opportunities and challenges for genome sequencing in the clinic.
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Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.
Annu Rev Genomics Hum Genet. 2016 Aug 31;17:303-32. doi: 10.1146/annurev-genom-083115-022348. Epub 2016 May 26.

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AI-Based Facial Phenotyping Supports a Shared Molecular Axis in -, -, and -Related Syndromes.
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SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
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MorPhiC Consortium: towards functional characterization of all human genes.
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Artificial intelligence in clinical genetics.
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Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.
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Identification of common genetic risk variants for autism spectrum disorder.
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Insights into genetics, human biology and disease gleaned from family based genomic studies.
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
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Integrating Genomics into Healthcare: A Global Responsibility.
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The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
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The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.
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A map of constrained coding regions in the human genome.
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OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.
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