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BMC Medical Genomics|July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndromeEric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
Medicine|October 21, 2016
Sialodochitis fibrinosa (kussmaul disease) report of 3 cases and literature reviewBryan Josue Flores Robles, Beatriz Brea Álvarez, Abel Alejandro Sanabria Sanchinel, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomaliesSara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
American Journal of Human Genetics|December 26, 2017
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow SyndromeJanson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Blood|July 11, 2024
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predispositionJiarna R Zerella, Claire C Homan, Peer Arts, et al.
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