Iván K. Chinn

Also affiliated with Texas Children's Hospital

Immunology and MicrobiologyBiochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 37 papers. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

The Journal of Experimental Medicine(2021)10.1084/jem.20201750

N/A

1.7DataRank · unranked

75 citations

David N. Nguyen, Chun Su, Brian E. Nolan, Amanda V. Albrecht, Suela Xhani +40 more

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood(2020)10.1182/blood.2020006441

N/A

0.578DataRank · unranked

46 citations

M. Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio +29 more

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Journal of Clinical Investigation(2020)10.1172/jci131297

N/A

0.477DataRank · unranked

23 citations

Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh +16 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.012

N/A

0.292DataRank · unranked

6 citations

Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler +91 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity

Cell Reports(2025)10.1016/j.celrep.2024.115156

N/A

0.220DataRank · unranked

3 citations

Frederique van den Haak, Alexander Frumovitz, Evelyn Hernández, Everardo Hegewisch-Solloa, Tabitha K Orange +10 more

An ELF4 hypomorphic variant results in NK cell deficiency

JCI Insight(2022)10.1172/jci.insight.155481

N/A

0DataRank · unranked

12 citations

Emily M. Mace, Matilde Immacolata Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda +17 more

PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.08.036

N/A

0DataRank · unranked

55 citations

Guangping Sun, Hiroto Nakano, Elizabeth Schmitz, Anthony Cruz, Charles G. Fisher +91 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.09.002

N/A

0DataRank · unranked

11 citations

Emily M. Mace, Justin R. Porter, Annelise Y. Mah-Som, Allyssa L. Daugherty, Stephanie Li +13 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Frontiers in Pediatrics(2023)10.3389/fped.2023.1211254

N/A

0DataRank · unranked

5 citations

Ilyas Emre Tekdemir, Nadir Koçak, Iván K. Chinn, Jordan S. Orange, Hasibe Artaç +1 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination

The Journal of Immunology(2024)10.4049/jimmunol.2300671

N/A

0DataRank · unranked

8 citations

Jackeline Peraza, Frederique van den Haak, Evelyn R. Hernandez, Richard A. Gibbs, Iván K. Chinn +7 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.10.27.620363

N/A

0DataRank · unranked

2 citations

Ming Yin Lun, Lidiia Gagarina, Michele G. Mehaffey, James Paul Hwang, Shalini N. Jhangiani +11 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus

Frontiers in Pediatrics(2024)10.3389/fped.2024.1425874

N/A

0DataRank · unranked

0 citations

Natalia Davila, Yuqing Wang, Michelle Zelnick, Eyal Muscal, Martha Curry +7 more

Monoallelic expression can govern penetrance of inborn errors of immunity

Nature(2025)10.1038/s41586-024-08346-4

N/A

0DataRank · unranked

77 citations

Conor Gruber, Haley E. Randolph, Roosheel S. Patel, Meredith Ramba, Enrica Calzoni +23 more

Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency

Journal of Allergy and Clinical Immunology(2025)10.1016/j.jaci.2025.01.030

N/A

0DataRank · unranked

9 citations

Evelyn R. Hernandez, Luis Alberto Pedroza, Iván K. Chinn, Lisa Forbes Satter, Nicholas L. Rider +13 more

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Genetics in Medicine(2025)10.1016/j.gim.2025.101613

N/A

0DataRank · unranked

5 citations

Michelle Zelnick, Shannon McNulty, Justyne E Ross, Namrata Khurana, Xueyang Pan +38 more

Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets

Journal of Allergy and Clinical Immunology(2025)10.1016/j.jaci.2025.07.017

N/A

0DataRank · unranked

4 citations

Andrew J. Oler, Iván K. Chinn, Michail S. Lionakis, Sebastian Ochoa

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2

medRxiv(2025)10.1101/2025.02.11.25322033

N/A

0DataRank · unranked

2 citations

Michelle Zelnick, Shannon McNulty, Justyne E Ross, Namrata Khurana, Xueyang Pan +19 more

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Science(2020)10.1126/science.aay5663

N/A

0DataRank · unranked

100 citations

William A. Comrie, M. Cecilia Poli, Morgan N Similuk, Andrew J. Oler, Aiman Faruqi +34 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

UNC Libraries(2025)10.17615/dy6f-xt03

N/A

0DataRank · unranked

0 citations

Benjamin Cogné, Rachel Rabin, E Kessler, Céline Chappé, Melanie Brügger +92 more

Human NK cell deficiency as a result of biallelic mutations in MCM10

Journal of Clinical Investigation(2020)10.1172/jci134966

N/A

0DataRank · unranked

71 citations

Silke Paust, Matilde Immacolata Conte, Ryan M. Baxley, Megan Schmit, Sagar L. Patil +23 more

Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality

Frontiers in Immunology(2020)10.3389/fimmu.2020.581475

N/A

0DataRank · unranked

12 citations

Stephanie N. Vazquez, Angela Chan, Michele E. Smith, Deepak Chellapandian, Laura Vose +17 more

Deforming Polyarthritis in a North Indian Family—Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)

Journal of Clinical Immunology(2020)10.1007/s10875-020-00872-w

N/A

0DataRank · unranked

5 citations

Ankur Kumar Jindal, Ashwini Prithvi, Anit Kaur, Amit Rawat, Madhubala Sharma +4 more

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.07.015

N/A

0DataRank · unranked

24 citations

Olive S. Eckstein, Nitya Gulati, Erin C. Peckham‐Gregory, Nmazuo Ozuah, Joseph Lubega +26 more

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Frontiers in Pediatrics(2021)10.3389/fped.2021.673957

N/A

0DataRank · unranked

26 citations

Mabel Ladino, Katherine Aránguiz, Gonzalo P. Méndez, Zeynep Coban‐Akdemir, Bo Yuan +8 more

Short stature and combined immunodeficiency associated with mutations in RGS10

Science Signaling(2021)10.1126/scisignal.abc1940

N/A

0DataRank · unranked

7 citations

Zhihui Xie, Eunice C. Chan, Bianca M. Nagata, Alexey Koval, Wei‐Sheng Chen +13 more

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

JCI Insight(2022)10.1172/jci.insight.154948

N/A

0DataRank · unranked

26 citations

M. Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Iván K. Chinn, Sandra Andrea Salinas +9 more

FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.08.005

N/A

0DataRank · unranked

21 citations

Marita Bosticardo, Sunita Singh, Morgan N Similuk, Ottavia M. Delmonte, Francesca Pala +10 more