Publications:

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

Brain : A Journal Of Neurology

Hiz Kurul, Semra S; Oktay, Yavuz Y; Töpf, Ana A; Szabó, Nóra Zs NZ; Güngör, Serdal S; Yaramis, Ahmet A; Sonmezler, Ece E; Matalonga, Leslie L; Yis, Uluc U; Schon, Katherine K; Paramonov, Ida I; Kalafatcilar, İpek Polat İP; Gao, Fei F; Rieger, Aliz A; Arslan, Nur N; Yilmaz, Elmasnur E; Ekinci, Burcu B; Edem, Pinar Pulat PP; Aslan, Mahmut M; Özgör, Bilge B; Lochmüller, Angela A; Nair, Ashwati A; O'Heir, Emily E; Lovgren, Alysia K AK; , ; Maroofian, Reza R; Houlden, Henry H; Polavarapu, Kiran K; Roos, Andreas A; Müller, Juliane S JS; Hathazi, Denisa D; Chinnery, Patrick F PF; Laurie, Steven S; Beltran, Sergi S; Lochmüller, Hanns H; Horvath, Rita R

Publication Date: 2022-05-24

Variant appearance in text: KMT2C: Pro4392Ser

PubMed Link: 34791078

Variant Present in the following documents:

• Main text
• awab395.pdf

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: MLL3: 13174C>T

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: MLL3: 13174C>T

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

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