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Cold Spring Harbor Molecular Case Studies|October 10, 2023
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary systemSwetha Ramadesikan, Caitlyn M Colwell, Rachel Supinger, et al.Frontiers in Immunology|July 7, 2020
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle TumorsJennifer R Yonkof, Ajay Gupta, Cesar M Rueda, et al.Clinical Immunology (Orlando, Fla.)|June 28, 2021
Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemiaMonica T Kraft, Regan Pyle, Xiangyang Dong, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 23, 2016
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literatureRoss Mangum, Elizabeth Varga, Daniel R Boué, et al.Frontiers in Oncology|December 17, 2024
Comprehensive genomic characterization of hematologic malignancies at a pediatric tertiary care centerAnn M Kebede, Elizabeth A R Garfinkle, Mariam T Mathew, et al.Autism Research : Official Journal of the International Society for Autism Research|February 11, 2011
Contactin 4 as an autism susceptibility locusCatherine E Cottrell, Natalie Bir, Elizabeth Varga, et al.Cold Spring Harbor Molecular Case Studies|October 8, 2020
Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinibAjay Gupta, Jennifer A Belsky, Kathleen M Schieffer, et al.European Journal of Medical Genetics|June 14, 2019
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastomaKathleen M Schieffer, Elizabeth Varga, Katherine E Miller, et al.Journal of Clinical Immunology|January 17, 2023
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic DevelopmentPeter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, et al.Cold Spring Harbor Molecular Case Studies|February 14, 2018
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade gangliogliomaKatherine E Miller, Benjamin Kelly, James Fitch, et al.Pageof 2