Julie E. Niemela

National Institutes of Health Clinical Center

Immunology and MicrobiologyMedicine

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 31 papers. Top paper: “Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations”.

Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations

Journal of Allergy and Clinical Immunology(2022)10.1016/j.jaci.2022.06.009

N/A

1.3DataRank · unranked

67 citations

Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael Setzer +95 more

Natural history study of patients with familial platelet disorder with associated myeloid malignancy

Blood(2023)10.1182/blood.2023019746

N/A

0.958DataRank · unranked

44 citations

Matthew Merguerian, Katherine R. Calvo, Joie Davis, Natalie Deuitch, Alina Dulau‐Florea +27 more

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Blood(2020)10.1182/blood.2020007292

N/A

0.609DataRank · unranked

57 citations

Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel +18 more

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS

Journal of Pediatric Hematology/Oncology(2020)10.1097/mph.0000000000001976

N/A

0.373DataRank · unranked

11 citations

Hye Sun Kuehn, Eda Odakir, Julie E. Niemela, Alper Özcan, Ahmet Eken +11 more

IFNγR1 deficiency presenting with visceral leishmaniasis and Mycobacterium Avium infections mimicking HLH

Pediatric Allergy and Immunology(2021)10.1111/pai.13653

N/A

0.269DataRank · unranked

5 citations

Sónia Lemos, Katherine Myint‐Hpu, Debbie Draper, Jennifer Stoddard, Julie E. Niemela +5 more

SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Blood(2021)10.1182/blood.2020008629

N/A

0DataRank · unranked

56 citations

Jenna Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese +30 more

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

The Journal of Experimental Medicine(2021)10.1084/jem.20211118

N/A

0DataRank · unranked

46 citations

Jingjie Chang, Motoi Yamashita, Julie E. Niemela, Chengcheng Zou, Kazuki Okuyama +13 more

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited

Journal of Clinical Immunology(2021)10.1007/s10875-021-01173-6

N/A

0DataRank · unranked

16 citations

Hye Sun Kuehn, Javier Chinen, Julie E. Niemela, Jennifer Stoddard, Daisuke Yamanaka +9 more

Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.05.031

N/A

0DataRank · unranked

10 citations

Christina Tatsi, Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Yan Su +9 more

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

Journal of Clinical Immunology(2021)10.1007/s10875-021-01052-0

N/A

0DataRank · unranked

3 citations

Nina Pastor, Edith González‐Serrano, Marco Antonio Yamazaki‐Nakashimada, Selma Scheffler‐Mendoza, Laura Berrón‐Ruiz +18 more

Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients With RAG1/2 Mutations: First Cases Series From Mexico and Description of Two Novel Mutations.

Research Square(2021)10.21203/rs.3.rs-202390/v1

N/A

0DataRank · unranked

0 citations

Saúl Oswaldo Lugo Reyes, Nina Pastor, Edith González‐Serrano, Marco Antonio Yamazaki‐Nakashimada, Selma Scheffer-Mendoza +18 more

A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency

Journal of Clinical Immunology(2020)10.1007/s10875-020-00842-2

N/A

0DataRank · unranked

17 citations

Andrea Bernasconi, Julie E. Niemela, María Belén Almejún, William Alexander Franco Gallego, Shubham Goel +12 more

Immunogenetics associated with severe coccidioidomycosis

JCI Insight(2022)10.1172/jci.insight.159491

N/A

0DataRank · unranked

53 citations

Agnieszka Korzeniowska, Cynthia C. Aguilar, Jingwen Gu, Eric Karlins, Andrew J. Oler +35 more

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

The Journal of Experimental Medicine(2023)10.1084/jem.20221755

N/A

0DataRank · unranked

114 citations

Daniel Leung, Mana Momenilandi, Lauren C.W. Jones, Lucia Pacillo, Alyssa James +89 more

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development

Journal of Clinical Immunology(2020)10.1007/s10875-020-00903-6

N/A

0DataRank · unranked

20 citations

Ottavia M. Delmonte, Vanessa Bundy, Marita Bosticardo, Michael T. Zimmermann, Nikita R. Dsouza +12 more

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

Science Immunology(2023)10.1126/sciimmunol.ade7953

N/A

0DataRank · unranked

42 citations

Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleußner +95 more

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Frontiers in Immunology(2023)10.3389/fimmu.2023.1190104

N/A

0DataRank · unranked

34 citations

Frédéric Ebstein, Sara Alehashemi, Daniela G.P. Piotto, А. Л. Козлова, Maria Teresa Terreri +25 more

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains

Journal of Clinical Investigation(2023)10.1172/jci172573

N/A

0DataRank · unranked

17 citations

Inga Sakovich, Julie E. Niemela, Agustin A. Gil Silva, Jennifer Stoddard, Ekaterina Polyakova +15 more

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Nature Communications(2023)10.1038/s41467-023-39272-0

N/A

0DataRank · unranked

20 citations

Hye Sun Kuehn, Brigette Boast, SuJin Hwang, Douglas B. Kuhns, Jennifer Stoddard +23 more

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.05.017

N/A

0DataRank · unranked

17 citations

Shubham Goel, Luis Ignacio González‐Granado, Julie E. Niemela, Jennifer Stoddard, Emily S.J. Edwards +18 more

Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Frontiers in Immunology(2023)10.3389/fimmu.2023.1303251

N/A

0DataRank · unranked

5 citations

Francesca Pala, Marita Bosticardo, Julie E. Niemela, Jennifer Stoddard, Eleonora Biasin +9 more

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Clinical Immunology(2023)10.1016/j.clim.2023.109732

N/A

0DataRank · unranked

6 citations

Batsukh Dorjbal, Stefania Pittaluga, Yu Zhang, Julie E. Niemela, Jennifer Stoddard +15 more

NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections

RMD Open(2023)10.1136/rmdopen-2023-003149

N/A

0DataRank · unranked

1 citations

Georgios Tsioulos, Christina Kotsogianni, Aggelos Banos, Julie E. Niemela, Aristine Cheng +8 more

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Nature Immunology(2024)10.1038/s41590-024-01817-w

N/A

0DataRank · unranked

34 citations

Kalpana Manthiram, Pallavi Pimpale Chavan, Eva Rieser, Önay Veli, Öykü Kaya +57 more

IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes

Clinical Immunology(2024)10.1016/j.clim.2024.109922

N/A

0DataRank · unranked

10 citations

Jennifer Stoddard, Julie E. Niemela, Jennifer Sponaugle, Irl Brian Greenwell, Erin L. Reigh +5 more

Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10

Journal of Allergy and Clinical Immunology(2024)10.1016/j.jaci.2024.12.1082

N/A

0DataRank · unranked

8 citations

Marita Bosticardo, Antonio Arrieta, Jennifer Stoddard, Francesca Pala, Julie E. Niemela +11 more

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature

Science Immunology(2025)10.1126/sciimmunol.adq1697

N/A

0DataRank · unranked

16 citations

Kerry Dobbs, Ottavia M. Delmonte, Andrew J. Martins, Francesca Pala, Tomoki Kawai +95 more

IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain

Clinical Immunology(2025)10.1016/j.clim.2025.110469

N/A

0DataRank · unranked

5 citations

Ana Esteve‐Solé, Agustin A. Gil Silva, Jennifer Stoddard, Julie E. Niemela, Seraina Prader +9 more

IKAROS regulates human T cell phenotype at a thymic and postthymic level

JCI Insight(2025)10.1172/jci.insight.197359

N/A

0DataRank · unranked

1 citations

Hye Sun Kuehn, Ravichandra Tagirasa, Marita Bosticardo, Francesca Pala, Julie E. Niemela +15 more

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

Blood Advances(2025)10.1182/bloodadvances.2025017243

N/A

0DataRank · unranked

0 citations

Agustin A. Gil Silva, Natchanun Klangkalya, Ana Esteve‐Solé, Shubham Goel, Julie E. Niemela +48 more

Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization

The Journal of Allergy and Clinical Immunology In Practice(2020)10.1016/j.jaip.2020.10.062

N/A

0DataRank · unranked

1 citations

Hye Sun Kuehn, Jennifer Stoddard, Julie E. Niemela, Guangping Sun, Michael D. Keller +3 more