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American Journal of Medical Genetics. Part A|February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variantAhmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A|April 2, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathyRuizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, 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.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, 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.
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.
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.
American Journal of Human Genetics|July 24, 2018
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function AllelesZeynep Coban-Akdemir, Janson J White, Xiaofei Song, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
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