Publications
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Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep 23, 1112-1123 (2018).
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83, 1133-1146 (2018).
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol 83, 1133-1146 (2018).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant. Sci Immunol 3, (2018).
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet 137, 471-478 (2018).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 71, 691-699 (2018).
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat 40, 1156-1171 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 105, 493-508 (2019).