High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases
近亲结婚家庭中,三重外显子组测序对神经遗传疾病的诊断率很高。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awab395
Hiz Kurul, Semra; Oktay, Yavuz; Töpf, Ana; Szabó, Nóra Zs; Güngör, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, İpek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Özgör, Bilge; Lochmüller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Müller, Juliane S; Hathazi, Denisa; Chinnery, Patrick F; Laurie, Steven; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita