Publications by authors named "Magdalena A Walkiewicz"

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Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.
Morgan N Similuk, Sarah A Bannon, Jia Yan, Rajarshi Ghosh, Ekaterina E Damskey, Magdalena A Walkiewicz

Transplantation· January 2026

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Reply to Brown and Burleigh's "Molecular and Cellular Mechanisms Leading to Topical Steroid Withdrawal Syndrome Remain Unexplained and Warrant Further Research".
Nadia Shobnam, Grace Ratley, Sarini Saksena, Manoj Yadav, Prem Prashant Chaudhary, Magdalena A Walkiewicz

J Invest Dermatol· December 2025

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Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.
Liora H Feshbach, Morgan Similuk, Laura M Amendola, Katie L Lewis, Magdalena A Walkiewicz

Case Rep Genet· December 2025

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IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes.
Chen Wang, Beatriz E Marciano, Annalie J Harris, Alicia M Johnston, Evsen Apaydin Arikan, Magdalena A Walkiewicz

Clin Infect Dis· November 2025

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Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Magdalena A Walkiewicz

Am J Med Genet B Neuropsychiatr Genet· October 2025

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Topical Steroid Withdrawal Is a Targetable Excess of Mitochondrial NAD.
Nadia Shobnam, Grace Ratley, Sarini Saksena, Manoj Yadav, Prem Prashant Chaudhary, Magdalena A Walkiewicz

J Invest Dermatol· August 2025

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Interferon-γ therapy in patients with refractory disseminated coccidioidomycosis.
Chen Wang, Brenna A LaBere, Michell M Lozano Chinga, Annalie J Harris, Lindsey B Rosen, Magdalena A Walkiewicz

Clin Infect Dis· May 2025

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Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.
Danielle J Reed, Yoshine Saito, Jasmine C Meltzer, Monica E Taylor, Whitney A High, Magdalena A Walkiewicz

JAAD Case Rep· May 2025

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"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity.
Breanna J Beers, Hannah R Davidson-Swinton, Katie L Lewis, Michael R Setzer, Magdalena A Walkiewicz

J Community Genet· April 2025

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Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Marita Bosticardo, Kerry Dobbs, Ottavia M Delmonte, Andrew J Martins, Francesca Pala, Magdalena A Walkiewicz

Sci Immunol· January 2025

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Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome.
Isabella G Larsen, Rachel Gore Moses, Bryce A Seifert, Siyuan Liu, Samuel Li, Magdalena A Walkiewicz

Biol Psychiatry Glob Open Sci· November 2024

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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in -related activated PI3K delta syndrome.
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Magdalena A Walkiewicz

Front Immunol· September 2024

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Topical Steroid Withdrawal is a Targetable Excess of Mitochondrial NAD.
Nadia Shobnam, Sarini Saksena, Grace Ratley, Manoj Yadav, Prem Prashant Chaudhary, Magdalena A Walkiewicz

medRxiv· April 2024

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Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
Noreen Mohsin, Devin Hunt, Jia Yan, Austin J Jabbour, Paul Nghiem, Magdalena A Walkiewicz

JAMA Dermatol· February 2024

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TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
Brigette Boast, Shubham Goel, Luis I González-Granado, Julie Niemela, Jennifer Stoddard, Magdalena A Walkiewicz

J Allergy Clin Immunol· September 2023

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Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
Andrea Lisco, Ana M Ortega-Villa, Harry Mystakelis, Megan V Anderson, Allyson Mateja, Magdalena A Walkiewicz

N Engl J Med· May 2023

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Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Breanna J Beers, Morgan N Similuk, Rajarshi Ghosh, Bryce A Seifert, Leila Jamal, Magdalena A Walkiewicz

Front Immunol· May 2023

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Case report: Discovery of a pathogenic variant in a patient with an APECED-like clinical phenotype.
Elise M N Ferré, Yunting Yu, Vasileios Oikonomou, Anna Hilfanova, Chyi-Chia R Lee, Magdalena A Walkiewicz

Front Immunol· March 2023

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FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
Rajarshi Ghosh, Marita Bosticardo, Sunita Singh, Morgan Similuk, Ottavia M Delmonte, Magdalena A Walkiewicz

J Allergy Clin Immunol· December 2022

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Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
Rebecca A Drummond, Jigar V Desai, Amy P Hsu, Vasileios Oikonomou, Donald C Vinh, Magdalena A Walkiewicz

J Clin Invest· November 2022

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Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
Morgan N Similuk, Jia Yan, Rajarshi Ghosh, Andrew J Oler, Luis M Franco, Magdalena A Walkiewicz

J Allergy Clin Immunol· October 2022

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SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Ottavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H McDermott, Magdalena A Walkiewicz

Blood· September 2021

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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A Walkiewicz

Blood· May 2021

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Magdalena A Walkiewicz

Genet Med· October 2018

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Phenotypic expansion in - a common cause of intellectual disability in females.
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, Magdalena A Walkiewicz

Ann Clin Transl Neurol· October 2018

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