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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis 43, 1333-1348 (2020).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1. J Exp Med 218, (2021).
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci 1413, 119-125 (2018).
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A 173, 2240-2245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol 139, 232-245 (2017).
PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet 95, 553-64 (2014).
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet 7, 164-173 (2018).
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet 7, 164-173 (2018).
Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep 23, 1112-1123 (2018).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 140, 940-952 (2017).
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. Neurology 89, 2297-2298 (2017).
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol 138, 1142-1151.e2 (2016).
Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families. Am J Respir Crit Care Med 196, 1481-1484 (2017).
Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 191, 646-55 (2015).
Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 191, 646-55 (2015).
Rare variants in RTEL1 are associated with familial interstitial pneumonia. Am J Respir Crit Care Med 191, 646-55 (2015).
Reads meet rotamers: structural biology in the age of deep sequencing. Curr Opin Struct Biol 35, 125-34 (2015).
Reads meet rotamers: structural biology in the age of deep sequencing. Curr Opin Struct Biol 35, 125-34 (2015).
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. Eur J Hum Genet 27, 1267-1273 (2019).
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet 98, 772-81 (2016).
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet 98, 772-81 (2016).
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy. Am J Hum Genet 98, 772-81 (2016).
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110, 3489-94 (2013).