Publications by authors named "Mariam Mathew"

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Comprehensive Genomic Characterization of Congenital and Infantile Cancers Reveals High Yield of Medically Meaningful Findings.
Mariam T Mathew, Samara L Potter, Kathleen M Schieffer, Julie O'Donovan, Elizabeth A R Garfinkle

JCO Precis Oncol· June 2025

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Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan-McDermid Syndrome.
Erica L Macke, Anthony R Miller, Caitlyn M Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Mariam T Mathew

Am J Med Genet A· March 2025

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Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care center.
Ann M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, Elizabeth Varga, Susan I Colace

Front Oncol· December 2024

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Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Bradley Hall, John N Milligan, Kevin Kelnar, Elliot Hallmark, Jacob D Ashton, Mariam T Mathew

Arch Pathol Lab Med· October 2024

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Exploring the Frontiers of Mathematical Neuroscience: A Comprehensive Bibliometric Analysis.
Jais Kurian, Dary John, Pratheesh Mathew, Liny Mariam Mathew, Jobin Jose

Cureus· October 2024

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Molecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
Margaret Shatara, Kathleen M Schieffer, Marilena Melas, Elizabeth A Varga, Diana Thomas, Mariam T Mathew

Front Oncol· September 2024

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Visualizing Scholarly Trends in Stochastic Models for Disease Prediction.
Sunila V, Jais Kurian, Liny Mariam Mathew, Pratheesh Mathew, Dary John

Cureus· September 2024

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Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing.
Mariam T Mathew, Yassmine M N Akkari

Clin Chem· June 2024

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Germline susceptibility from broad genomic profiling of pediatric brain cancers.
Elaine R Mardis, Samara L Potter, Kathleen M Schieffer, Elizabeth A Varga, Mariam T Mathew

Neurooncol Adv· June 2024

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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Mariam T Mathew

Mol Genet Genomic Med· March 2024

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Is there a difference in the clinical profile and outcome of women using levonorgestrel IUD for abnormal uterine bleeding and those using it for contraception?: A comparative cross-sectional study.
Maryam Al Shukri, Maryam Said, Asha Nair, Mariam Mathew, Vaidyanatahn Gowri

Turk J Obstet Gynecol· March 2024

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Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Catherine K Gestrich, Mathew P Vivero, Dennis J Konczyk, Jeremy A Goss, Brian I Labow, Mariam T Mathew

Am J Surg Pathol· January 2024

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Clinical Cytogenetics: Current Practices and Beyond.
Mariam T Mathew, Melanie Babcock, Ying-Chen Claire Hou, Jesse M Hunter, Marco L Leung

J Appl Lab Med· January 2024

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Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Alayne P Meyer, Jianing Ma, Guy Brock, Sayaka Hashimoto, Catherine E Cottrell, Mariam Mathew

Muscle Nerve· November 2023

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Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.
Kathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, Eileen Stonerock, Vijayakumar Jayaraman, Mariam T Mathew

Cancers (Basel)· September 2023

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Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.
Jude Tunyi, Nicolas J Abreu, Richa Tripathi, Mariam T Mathew, Ashley Mears

Pediatr Neurol· May 2023

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Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.
Anthony R Miller, Saranga Wijeratne, Sean D McGrath, Kathleen M Schieffer, Katherine E Miller, Mariam Mathew

J Mol Diagn· December 2022

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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mariam T Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither

J Mol Diagn· September 2022

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Phenotypic Spectrum in a Family Sharing a Heterozygous Variant.
Kristen Arredondo, Cortlandt Myers, Emily Hansen-Kiss, Mariam T Mathew, Vijayakumar Jayaraman

J Child Neurol· May 2022

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Somatic variation as an incidental finding in the pediatric next-generation sequencing era.
Marilena Melas, Mariam T Mathew, Mari Mori, Vijayakumar Jayaraman, Sarah A Wilson

Cold Spring Harb Mol Case Stud· December 2021

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Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Mariam Mathew

Sci Adv· May 2021

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Characterization of few mode fiber components and connected systems.
Lars Grüner-Nielsen, Neethu Mariam Mathew, Karsten Rottwitt

Opt Express· January 2021

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Ocular manifestations in a case of Wernicke's encephalopathy due to hyperemesis gravidarum.
Namitha Rachel Mathew, Sudha G Menon, Mariam Mathew

Oman J Ophthalmol· January 2018

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Decisions to Perform Emergency Caesarean Sections at a University Hospital: Do obstetricians agree?
Silja A Pillai, Gowri Vaidyanathan, Maryam Al-Shukri, Tamima R Al-Dughaishi, Shahila Tazneem, Mariam Mathew

Sultan Qaboos Univ Med J· February 2016

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Idiopathic intracranial hypertension presenting as postpartum headache.
Mariam Mathew, Ayesha Salahuddin, Namitha R Mathew, Ramachandiran Nandhagopal

Neurosciences (Riyadh)· January 2016

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