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Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Enriching for Answers in Rare DiseasesYilei Fu, Adam C English, Luis F Paulin, et al.
Neurology. Genetics|May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital MyopathyDaniel G Calame, Jawid Fatih, Isabella Herman, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
Molecular Genetics and Metabolism|September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world dataIsabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrumLisa T Emrick, Jill A Rosenfeld, Seema R Lalani, et al.
American Journal of Medical Genetics. Part A|June 5, 2021
Risk of sudden cardiac death in EXOSC5-related diseaseDaniel G Calame, Isabella Herman, Jawid M Fatih, et al.
American Journal of Medical Genetics. Part A|March 25, 2022
Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish familyElifcan Taşdelen, Daniel G Calame, Gulsen Akay, et al.
European Journal of Human Genetics : EJHG|September 10, 2024
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32Zain Dardas, Dana Marafi, Ruizhi Duan, et al.
American Journal of Medical Genetics. Part A|November 24, 2021
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnosesIsabella Herman, Angad Jolly, Haowei Du, et al.
Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.
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