Publications by authors named "Pankaj B Agrawal"

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Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.
Asena Pinar Sefer, Mehmet Cihangir Catak, Isa An, Necmiye Keser Ozturk, Leyla Baykal Selcuk, Pankaj B Agrawal

Front Immunol· December 2025

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Implementing customized genomic sequencing reports to empower providers in safety-net neonatal intensive care units.
Alissa M D'Gama, Jessica Douglas, Sonia Hills, Monica H Wojcik, Casie A Genetti, Pankaj B Agrawal

Genet Med· November 2025

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Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, Alison D Archibald, Belinda Dawson-McClaren

Eur J Hum Genet· November 2025

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Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis.
Mehdi Benamar, Paola Contini, Klaus Schmitz-Abe, Olga Lanzetta, Feven Getachew, Pankaj B Agrawal

Immunity· November 2025

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Role of next generation sequencing in neonatal diagnosis and screening.
Sara S Ali, Pankaj B Agrawal

J Neuromuscul Dis· November 2025

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Genetic Testing in the Neonate.
Alissa M D'Gama, Pankaj B Agrawal

Clin Perinatol· September 2025

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Persistent Inflammation, Maladaptive Remodeling, and Fibrosis in the Kidney Following Long COVID-like MHV-1 Mouse Model.
Rajalakshmi Ramamoorthy, Anna Rosa Speciale, Emily M West, Hussain Hussain, Nila Elumalai, Pankaj B Agrawal

Diseases· August 2025

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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Pankaj B Agrawal

HGG Adv· July 2025

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A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy.
John C Kennedy, Sara O Vargas, Martha P Fishman, Nicola Alesi, Seung-Han Baek, Pankaj B Agrawal

Med· June 2025

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Unique signatures of highly constrained genes across publicly available genomic databases.
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, Michela Borrelli, Shiyu Luo, Pankaj B Agrawal

Genet Med· June 2025

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Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
Shiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, Qifei Li, Jessica Kottmeier, Pankaj B Agrawal

Eur J Hum Genet· May 2025

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Implementation of multi-omics in diagnosis of pediatric rare diseases.
Sara S Ali, Qifei Li, Pankaj B Agrawal

Pediatr Res· March 2025

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SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.
Mary P Mullen, D Dunbar Ivy, Nidhy P Varghese, Abbey J Winant, Nahir Cortes-Santiago, Pankaj B Agrawal

J Pediatr· March 2025

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Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Sarah U Morton, Gregory Costain, Courtney E French, Emma Wakeling, Anna Szuto, Pankaj B Agrawal

Neurology· January 2025

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Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.
Monica H Wojcik, Robin D Clark, Abdallah F Elias, Casie A Genetti, Jill A Madden, Pankaj B Agrawal

Res Sq· January 2025

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"It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs.
Alissa M D'Gama, Monica H Wojcik, Sonia Hills, Jessica Douglas, , Pankaj B Agrawal

Genet Med· September 2024

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Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases.
Klaus Schmitz-Abe, Qifei Li, Sunny Greene, Michela Borrelli, Shiyu Luo, Pankaj B Agrawal

bioRxiv· September 2024

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Pankaj B Agrawal

Ann Neurol· September 2024

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HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells.
Shiyu Luo, Bilal Alwattar, Qifei Li, Kiran Bora, Alexandra K Blomfield, Pankaj B Agrawal

Dis Model Mech· August 2024

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A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B Agrawal, Katherine Agre

Genes (Basel)· August 2024

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WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.
Amy E O'Connell, Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Pankaj B Agrawal

Cell Mol Gastroenterol Hepatol· July 2024

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The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.
Shiyu Luo, Stuart Rollins, Klaus Schmitz-Abe, Amy Tam, Qifei Li, Pankaj B Agrawal

Clin Chim Acta· July 2024

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Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
Qifei Li, Jasmine Lin, Shiyu Luo, Klaus Schmitz-Abe, Rohan Agrawal, Pankaj B Agrawal

J Cachexia Sarcopenia Muscle· June 2024

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Genome Sequencing for Diagnosing Rare Diseases.
Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Pankaj B Agrawal

N Engl J Med· June 2024

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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Pankaj B Agrawal

Am J Hum Genet· May 2024

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