Ivan K Chinn
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Explore the profile of Ivan K Chinn including associated specialties, affiliations and a list of published articles.
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68
Citations
1877
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Recent Articles
1.
Bozkurt-Yozgatli T, Lun M, Bengtsson J, Sezerman U, Chinn I, Coban-Akdemir Z, et al.
Eur J Hum Genet
. 2025 Feb;
PMID: 40021841
Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent...
2.
Jacovas V, Zelnick M, McNulty S, Ross J, Khurana N, Pan X, et al.
medRxiv
. 2025 Feb;
PMID: 39990552
Purpose: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and...
3.
Abdalgani M, Hernandez E, Pedroza L, Chinn I, Forbes Satter L, Rider N, et al.
J Allergy Clin Immunol
. 2025 Feb;
PMID: 39914554
Background: Natural killer (NK) cell deficiency (NKD) is an immunodeficiency phenotype in which abnormality of NK cells is the major clinically relevant immune defect. Objective: We sought to define the...
4.
Pedroza L, van den Haak F, Frumovitz A, Hernandez E, Hegewisch-Solloa E, Orange T, et al.
Cell Rep
. 2025 Jan;
44(1):115156.
PMID: 39813120
Cytotoxic immune cells mediate precise attacks against diseased cells to maintain organismal health. Their operational unit of killing and host defense is lytic granules (LGs), which are specialized lysosomal-related organelles....
5.
Lessel I, Baresic A, Chinn I, May J, Goenka A, Chandler K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):394-413.
PMID: 39798569
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants...
6.
Stewart O, Gruber C, Randolph H, Patel R, Ramba M, Calzoni E, et al.
Nature
. 2025 Jan;
637(8048):1186-1197.
PMID: 39743591
Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy. Incomplete penetrance is common among IEIs despite their monogenic basis. Here we...
7.
Bozkurt-Yozgatli T, Lun M, Bengtsson J, Sezerman U, Chinn I, Coban-Akdemir Z, et al.
medRxiv
. 2024 Nov;
PMID: 39574843
Inversions are known contributors to the pathogenesis of genetic diseases. Identifying inversions poses significant challenges, making it one of the most demanding structural variants (SVs) to detect and interpret. Recent...
8.
Du H, Lun M, Gagarina L, Mehaffey M, Hwang J, Jhangiani S, et al.
bioRxiv
. 2024 Nov;
PMID: 39553991
Background: Copy number variation (CNV) is a class of genomic Structural Variation (SV) that underlie genomic disorders and can have profound implications for health. Short-read genome sequencing (sr-GS) enables CNV...
9.
Nieto-Patlan A, Fernandez Davila N, Wang Y, Zelnick M, Muscal E, Curry M, et al.
Front Pediatr
. 2024 Sep;
12:1425874.
PMID: 39228435
Introduction: Systemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset of pediatric systemic lupus erythematosus (pSLE) is uncommon and should raise suspicion for a genetic driver...
10.
Horesh M, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, et al.
J Exp Med
. 2024 May;
221(6).
PMID: 38709237
No abstract available.