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European Journal of Human Genetics : EJHG|January 27, 2022
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variantMichaela Yuen, Lisa Worgan, Jessika Iwanski, et al.European Journal of Human Genetics : EJHG|January 27, 2022
Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic reviewBenedetta Bertonazzi, Daniela Turchetti, Lea GodinoEuropean Journal of Human Genetics : EJHG|March 30, 2022
Coronavirus Host Genetics South Africa (COHG-SA) database-a variant database for gene regions associated with SARS-CoV-2 outcomesFatima Barmania, Juanita Mellet, Megan A Ryder, et al.European Journal of Human Genetics : EJHG|September 29, 2018
Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31Heming Wang, Priyanka Nandakumar, Fasil Tekola-Ayele, et al.European Journal of Human Genetics : EJHG|October 3, 2018
European guidelines for constitutional cytogenomic analysisMarisa Silva, Nicole de Leeuw, Kathy Mann, et al.European Journal of Human Genetics : EJHG|September 13, 2018
Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic reviewTatiane Yanes, Amanda M Willis, Bettina Meiser, et al.European Journal of Human Genetics : EJHG|September 13, 2018
Exploring rare and low-frequency variants in the Saguenay-Lac-Saint-Jean population identified genes associated with asthma and allergy traitsAndréanne Morin, Anne-Marie Madore, Tony Kwan, et al.European Journal of Human Genetics : EJHG|June 16, 2019
CUGC for posterior polymorphous corneal dystrophy (PPCD)Alice E Davidson, Nathaniel J Hafford-Tear, Lubica Dudakova, et al.European Journal of Human Genetics : EJHG|May 16, 2019
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontiaPaulien A Terhal, Judith M Vlaar, Sjors Middelkamp, et al.European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.Pageof 564