High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Summary

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Authors: Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Leslie Matalonga, Uluc Yis, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pinar Pulat Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O'Heir, Alysia K Lovgren, Broad Center for Mendelian Geno

Journal title: Brain

Journal number: 145

Journal publisher: Oxford University Press

Published year: 2022

Published pages: 1507–1518

DOI identifier: 10.1093/brain/awab395

ISSN: 0006-8950