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Orphanet Journal of Rare Diseases|October 18, 2024
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approachDominic J Romeo, Andrew M George, Jonathan H Sussman, et al.
Arxiv|May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical TextsDa Wu, Jingye Yang, Cong Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
Biorxiv : the Preprint Server for Biology|July 1, 2024
Single-nucleus multiomic analysis of Beckwith-Wiedemann syndrome liver reveals PPARA signaling enrichment and metabolic dysfunctionSnehal Nirgude, Elisia D Tichy, Zhengfeng Liu, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|June 17, 2017
Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer RiskAnita Villani, Mary-Louise C Greer, Jennifer M Kalish, et al.
Pediatric Blood & Cancer|June 23, 2018
Diagnosis of Beckwith-Wiedemann syndrome in children presenting with Wilms tumorSuzanne P MacFarland, Kelly A Duffy, Tricia R Bhatti, et al.
American Journal of Medical Genetics. Part A|May 9, 2019
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndromeJennifer L Cohen, Kelly A Duffy, Brian J Sajorda, et al.
American Journal of Medical Genetics. Part A|April 13, 2026
High-Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient-Reported DataAndrew M George, Bamelak T Duki, Zoe S Katz, et al.
Nature Reviews. Disease Primers|June 29, 2023
Imprinting disordersThomas Eggermann, David Monk, Guiomar Perez de Nanclares, et al.
Frontiers in Pediatrics|August 2, 2021
Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic EventsElizabeth Rosenfeld, Lauren Mitteer, Kara Boodhansingh, et al.
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