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Clinical Genetics|March 20, 2026
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)Carolina I Galaz-Montoya, Sara A Lewis, Maureen K Galindo, et al.
Clinical Genetics|March 20, 2026
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET DeficiencyFernanda Sperb-Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, et al.
Clinical Genetics|June 3, 2026
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical CorrelationsStella Diogo-Cavassana, Danillo Alencar-Coutinho, Rafaella Abreu-Oberhuber, et al.
Clinical Genetics|May 1, 1987
Female carriers of Duchenne muscular dystrophy: a dilemmaH Isaacs, M Badenhorst
Clinical Genetics|June 19, 2023
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq programKatherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, et al.
Clinical Genetics|June 15, 2023
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disabilityHammad Yousaf, Shagufta Rehmat, Muhammad Jameel, et al.
Clinical Genetics|May 30, 2023
GNAS gene mutations affecting XLαs and bone health: A long neglected relationshipYanni Xie, Xiang Chen, Ying Xie, et al.
Clinical Genetics|May 26, 2023
Lymphedema is associated with CELSR1 in Phelan-McDermid syndromeMarie S Smith, Sara M Sarasua, Curtis Rogers, et al.
Clinical Genetics|May 28, 2026
GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset AtaxiaEva-Maria Kraus, Johannes Lenz, Pauline Ploettner, et al.
Clinical Genetics|March 4, 2017
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutationL Peña-Quintana, G Scherer, M L Curbelo-Estévez, et al.
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