Publications:

---

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Brain Communications

Ruf, Wolfgang P WP; Boros, Matej M; Freischmidt, Axel A; Brenner, David D; Grozdanov, Veselin V; de Meirelles, Joao J; Meyer, Thomas T; Grehl, Torsten T; Petri, Susanne S; Grosskreutz, Julian J; Weyen, Ute U; Guenther, Rene R; Regensburger, Martin M; Hagenacker, Tim T; Koch, Jan C JC; Emmer, Alexander A; Roediger, Annekathrin A; Steinbach, Robert R; Wolf, Joachim J; Weishaupt, Jochen H JH; Lingor, Paul P; Deschauer, Marcus M; Cordts, Isabell I; Klopstock, Thomas T; Reilich, Peter P; Schoeberl, Florian F; Schrank, Berthold B; Zeller, Daniel D; Hermann, Andreas A; Knehr, Antje A; Günther, Kornelia K; Dorst, Johannes J; Schuster, Joachim J; Siebert, Reiner R; Ludolph, Albert C AC; Müller, Kathrin K

Publication Date: 2023

Variant appearance in text: OPTN: 785C>A; S262*

PubMed Link: 37223130

Variant Present in the following documents:

• Main text
• fcad152.pdf

View BVdb publication page

---

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: OPTN: S262X; rs750571210

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 4
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

---

Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis.

Frontiers In Neurology

Dominguez, Jacqueline J; Yu, Jeryl Tan JT; Tan, Yi Jayne YJ; Ng, Arlene A; De Guzman, Ma Fe MF; Natividad, Boots B; Daroy, Ma Luisa ML; Cano, Jemellee J; Yu, Justine J; Lian, Michelle M MM; Zeng, Li L; Lim, Weng Khong WK; Foo, Jia Nee JN; Ng, Adeline S L ASL

Publication Date: 2021

Variant appearance in text: OPTN: Ser262*

PubMed Link: 34093394

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Annals Of Clinical And Translational Neurology

Feng, Shu-Man SM; Che, Chun-Hui CH; Feng, Shu-Yan SY; Liu, Chang-Yun CY; Li, Liu-Yi LY; Li, Yuan-Xiao YX; Huang, Hua-Pin HP; Zou, Zhang-Yu ZY

Publication Date: 2019-12

Variant appearance in text: OPTN: S262X

PubMed Link: 31838784

Variant Present in the following documents:

• Main text
• ACN3-6-2377.pdf

View BVdb publication page

---

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration

Pottier, Cyril C; Rampersaud, Evadnie E; Baker, Matt M; Wu, Gang G; Wuu, Joanne J; McCauley, Jacob L JL; Zuchner, Stephan S; Schule, Rebecca R; Bermudez, Christin C; Hussain, Sumaira S; Cooley, Anne A; Wallace, Marielle M; Zhang, Jinghui J; Taylor, J Paul JP; Benatar, Michael M; Rademakers, Rosa R

Publication Date: 2018-08

Variant appearance in text: OPTN: 785C>A; Ser262*

PubMed Link: 29558868

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: OPTN: S262X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---