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Clinical Genetics|June 17, 2026
An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial HypertensionAbdullah Aldalaan, Seba Nadeef, Ebtissal Khouj, et al.
Kidney International Reports|August 15, 2025
Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney DiseaseChristin Findeisen, Maria Papazian, Linda Pöschla, et al.
EMBO Molecular Medicine|May 5, 2026
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalitiesNanako Hamada, Lama AlAbdi, Tomoko Uehara, et al.
European Journal of Human Genetics : EJHG|March 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypesFrederike L Harms, Christian Müller, Fanny Kortüm, et al.
Scientific Reports|July 15, 2026
MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorderHanan E Shamseldin, Dana Marafi, Mohammed AlMuhaizea, et al.
Ebiomedicine|December 28, 2023
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalitiesNiu Li, Yufei Xu, Hongzhu Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2022
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorderSuma P Shankar, Kristin Grimsrud, Louise Lanoue, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1BTomer Poleg, Noam Hadar, Eyal Kristal, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
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