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1
The Human Phenotype Ontology in 2024: phenotypes around the world

von Gargano MA ; Matentzoglu N ; Coleman B ; et al.

Nucleic Acids Research, 5 January 2024
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2
The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease

von Carmody LC ; Gargano MA ; Toro S ; et al.

Med, 2023
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3
The Human Phenotype Ontology in 2024: phenotypes around the world

von Gargano, MA ; Matentzoglu, N ; Coleman, B ; et al.

D1346 ; D1333

Schlagworte: England
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4
Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.

von Srinivasan S ; Cao W ; Similuk MN ; et al.

The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 Jun; Vol. 157 (6), pp. 1457-1460. Date of Electronic Publication: 2026 Feb 27.
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5
Clinical relevance of mosaic variants detected by exome sequencing.

von Ghosh R ; Fazal Z ; Oler AJ ; et al.

The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1195-1205. Date of Electronic Publication: 2026 Feb 20.
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6
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings.

von Bloom AS ; Amendola LM ; Reynolds-Lallement N ; et al.

European journal of medical genetics [Eur J Med Genet] 2026 May; Vol. 81, pp. 105077. Date of Electronic Publication: 2026 Apr 13.
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7
Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

von Schmitz EG ; Paul AJ ; Ghosh R ; et al.

The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1179-1194. Date of Electronic Publication: 2026 Feb 05.
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8
Mondo: integrating disease terminology across communities.

von Vasilevsky NA ; Toro S ; Matentzoglu N ; et al.

Genetics [Genetics] 2026 Apr 04; Vol. 232 (4).
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9
Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.

von Similuk MN ; Bannon SA ; Yan J ; et al.

Transplantation [Transplantation] 2026 Jan 01; Vol. 110 (1), pp. e166-e174. Date of Electronic Publication: 2025 Jul 31.
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10
How We Approach the Integration of Psychological Services in the Care of Children With Cancer Predisposition Syndromes.

von Hanania JW ; Shepherd RF ; Wiener L ; et al.

Pediatric blood & cancer [Pediatr Blood Cancer] 2025 Dec; Vol. 72 (12), pp. e32065. Date of Electronic Publication: 2025 Sep 17.
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11
"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity.

von Beers BJ ; Davidson-Swinton HR ; Lewis KL ; et al.

Journal of community genetics [J Community Genet] 2025 Apr; Vol. 16 (2), pp. 117-130. Date of Electronic Publication: 2025 Jan 06.
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12
Germline mutations in a G protein identify signaling cross-talk in T cells.

von Ham H ; Jing H ; Lamborn IT ; et al.

Science (New York, N.Y.) [Science] 2024 Sep 20; Vol. 385 (6715), pp. eadd8947. Date of Electronic Publication: 2024 Sep 20.
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13
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.

von Beers BJ ; Similuk MN ; Ghosh R ; et al.

Frontiers in immunology [Front Immunol] 2023 May 05; Vol. 14, pp. 1172004. Date of Electronic Publication: 2023 May 05 (Print Publication: 2023).
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14
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.

von Similuk MN ; Yan J ; Ghosh R ; et al.

The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2022 Oct; Vol. 150 (4), pp. 947-954. Date of Electronic Publication: 2022 Jun 24.
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15
Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.

von Similuk MN ; Yan J ; Setzer MR ; et al.

Journal of genetic counseling [J Genet Couns] 2021 Jun; Vol. 30 (3), pp. 766-773. Date of Electronic Publication: 2020 Dec 15.
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16
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

von Ferre EM ; Rose SR ; Rosenzweig SD ; et al.

JCI insight [JCI Insight] 2016 Aug 18; Vol. 1 (13).
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17
Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.

von Similuk MN ; Wang A ; Lenardo MJ ; et al.

Journal of clinical immunology [J Clin Immunol] 2016 Feb; Vol. 36 (2), pp. 123-33. Date of Electronic Publication: 2016 Feb 12.
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