Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: NEFH: 1575G>C; Lys525Asn

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: NEFH: K525N

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.

Neurology. Genetics

Nel, Melissa M; Mahungu, Amokelani C AC; Monnakgotla, Nomakhosazana N; Botha, Gerrit R GR; Mulder, Nicola J NJ; Wu, Gang G; Rampersaud, Evadnie E; van Blitterswijk, Marka M; Wuu, Joanne J; Cooley, Anne A; Myers, Jason J; Rademakers, Rosa R; Taylor, J Paul JP; Benatar, Michael M; Heckmann, Jeannine M JM

Publication Date: 2022-02

Variant appearance in text: NEFH: K525N

PubMed Link: 35047667

Variant Present in the following documents:

• NG2021017234.pdf

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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Blauwendraat, Cornelis C; Wilke, Carlo C; Simón-Sánchez, Javier J; Jansen, Iris E IE; Reifschneider, Anika A; Capell, Anja A; Haass, Christian C; Castillo-Lizardo, Melissa M; Biskup, Saskia S; Maetzler, Walter W; Rizzu, Patrizia P; Heutink, Peter P; Synofzik, Matthis M

Publication Date: 2018-02

Variant appearance in text: NEFH: K525N; rs149183166

PubMed Link: 28749476

Variant Present in the following documents:

• gim2017102x4.xlsx, sheet 2

View BVdb publication page