SARAH NICHOLAS to Male
This is a "connection" page, showing publications SARAH NICHOLAS has written about Male.
Connection Strength
0.153
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ABO-incompatible deceased donor pediatric liver transplantation: Novel titer-based management protocol and outcomes. Pediatr Transplant. 2018 11; 22(7):e13263.
Score: 0.019
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.019
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Early versus delayed diagnosis of SCID: triumph versus tragedy. Clin Immunol. 2011 Jun; 139(3):360-2.
Score: 0.011
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 03 01; 102(3):494-504.
Score: 0.009
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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. Orphanet J Rare Dis. 2017 04 17; 12(1):71.
Score: 0.009
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. Am J Hum Genet. 2017 Jan 05; 100(1):128-137.
Score: 0.009
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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin. J Clin Immunol. 2024 09 30; 45(1):19.
Score: 0.007
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Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation. Pediatr Infect Dis J. 2022 05 01; 41(5):430-435.
Score: 0.006
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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 02 17; 139(7):1039-1051.
Score: 0.006
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.006
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Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality. Front Immunol. 2020; 11:581475.
Score: 0.006
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Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. J Allergy Clin Immunol Pract. 2019 Jul - Aug; 7(6):1970-1985.e4.
Score: 0.005
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 01; 21(1):161-172.
Score: 0.005
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.005
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Outcomes after Allogeneic Transplant in Patients with Wiskott-Aldrich Syndrome. Biol Blood Marrow Transplant. 2018 03; 24(3):537-541.
Score: 0.005
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Immunologic Profiling of Human Metapneumovirus for the Development of Targeted Immunotherapy. J Infect Dis. 2017 09 15; 216(6):678-687.
Score: 0.004
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.004
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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2.
Score: 0.004
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Pediatric Liver Transplantation Across the ABO Blood Group Barrier: Is It an Obstacle in the Modern Era? J Am Coll Surg. 2016 Apr; 222(4):681-9.
Score: 0.004
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Use of enteral immunoglobulin in NEMO syndrome for eradication of persistent symptomatic norovirus enteritis. J Allergy Clin Immunol Pract. 2016 May-Jun; 4(3):539-541.e1.
Score: 0.004
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60.
Score: 0.004
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Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011 Nov; 128(5):1115-7.e1-3.
Score: 0.003