Last Updated: 09/26/2026
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Found 99 publications
Genome and transcriptome sequencing reveal pathogenic activation of a pseudoexon in PKD1 via a de novo-common variant complex allele.
Journal: Genetics in medicine open
Published: November 12, 2025
Genome sequencing identifies monogenic causes in adults with metabolic diseases.
Journal: Journal of the Endocrine Society
Published: October 22, 2025
Chromosome 5q deletion drives evolution of aneuploidy in myeloid neoplasms with complex karyotype.
Journal: Blood
Published: October 14, 2025
Interventional genomics: Bridging germline diagnosis and therapeutic action.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 30, 2025
Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 28, 2025
Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel TUBA1A Variant.
Journal: Fetal diagnosis and therapy
Published: July 18, 2025
Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validation.
Journal: American journal of obstetrics and gynecology
Published: July 08, 2025
Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans.
Journal: American journal of human genetics
Published: March 31, 2025
Prenatally Detected Maternally Inherited Partial Duplication of 11p15.5 ICR1 Results in Phenotypes Overlapping Russell-Silver Syndrome in Infancy.
Journal: Prenatal diagnosis
Published: February 28, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Superficial Atypical Lipomatous Tumor With Pleomorphic Features: Case Report and Discussion of the Literature.
Journal: The American Journal of dermatopathology
Published: August 12, 2024
Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.
Journal: medRxiv : the preprint server for health sciences
Published: May 20, 2024
Last Updated: 09/26/2026