SARAH NICHOLAS to Humans
This is a "connection" page, showing publications SARAH NICHOLAS has written about Humans.
Connection Strength
0.232
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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: 0.017
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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: 0.017
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Early versus delayed diagnosis of SCID: triumph versus tragedy. Clin Immunol. 2011 Jun; 139(3):360-2.
Score: 0.010
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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: 0.008
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MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. Am J Hum Genet. 2017 Jun 01; 100(6):843-853.
Score: 0.008
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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: 0.008
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet. 2017 02 02; 100(2):185-192.
Score: 0.008
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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: 0.008
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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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Atypical infiltrates on endomyocardial biopsy are associated with adverse outcomes in pediatric heart transplantation. J Heart Lung Transplant. 2023 12; 42(12):1743-1752.
Score: 0.006
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Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 11; 60(11):1092-1104.
Score: 0.006
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Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival. Blood Adv. 2023 05 09; 7(9):1823-1830.
Score: 0.006
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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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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
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: 0.005
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HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease. Blood. 2021 11 11; 138(19):1896-1901.
Score: 0.005
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Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 08; 41(6):1420-1423.
Score: 0.005
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.005
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Blood, Sweat, and Fears: A Novel Mutation Associated With Anaphylaxis and Nonresponse in a Patient With Afibrinogenemia. J Pediatr Hematol Oncol. 2021 03 01; 43(2):e260-e263.
Score: 0.005
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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: 0.005
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Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2020 09; 8(8):2769-2770.
Score: 0.005
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Live vaccines after pediatric solid organ transplant: Proceedings of a consensus meeting, 2018. Pediatr Transplant. 2019 11; 23(7):e13571.
Score: 0.005
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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: 0.004
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Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome. J Allergy Clin Immunol. 2019 05; 143(5):1952-1956.e6.
Score: 0.004
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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: 0.004
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.004
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High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. Biol Blood Marrow Transplant. 2018 08; 24(8):1643-1650.
Score: 0.004
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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: 0.004
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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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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 04; 20(4):464-469.
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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Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. J Clin Immunol. 2016 05; 36(4):377-387.
Score: 0.004
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Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes. J Allergy Clin Immunol. 2016 05; 137(5):1498-1505.e1.
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: 0.003
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Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency. J Allergy Clin Immunol. 2014 Dec; 134(6):1451-1453.e1.
Score: 0.003
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The role of STAT3 activation in modulating the immune microenvironment of GBM. J Neurooncol. 2012 Dec; 110(3):359-68.
Score: 0.003
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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
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Molecular and descriptive epidemiologyof multidrug-resistant Enterobacteriaceae in hospitalized infants. Infect Control Hosp Epidemiol. 2008 Mar; 29(3):250-5.
Score: 0.002
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Implementation of an emergency and disaster medical response training network in the Commonwealth of Independent States. J Emerg Med. 2005 Aug; 29(2):221-9.
Score: 0.002
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Incidence of traumatic lumbar puncture. Acad Emerg Med. 2003 Feb; 10(2):151-4.
Score: 0.001