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: RYR1: 14752G>A; Asp4918Asn

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

The Journal Of General Physiology

Rossi, Daniela D; Catallo, Maria Rosaria MR; Pierantozzi, Enrico E; Sorrentino, Vincenzo V

Publication Date: 2022-09-05

Variant appearance in text: RYR1: D4918N

PubMed Link: 35980353

Variant Present in the following documents:

• Main text
• JGP_202213115.pdf

View BVdb publication page

---

Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.

Npj Breast Cancer

Marczyk, Michal M; Qing, Tao T; O'Meara, Tess T; Yagahoobi, Vesal V; Pelekanou, Vasiliki V; Bai, Yalai Y; Reisenbichler, Emily E; Cole, Kimberly S KS; Li, Xiaotong X; Gunasekharan, Vignesh V; Ibrahim, Eiman E; Fanucci, Kristina K; Wei, Wei W; Rimm, David L DL; Pusztai, Lajos L; Blenman, Kim R M KRM

Publication Date: 2022-07-22

Variant appearance in text: RYR1: Asp4918Asn; rs1469916243

PubMed Link: 35869114

Variant Present in the following documents:

• 41523_2022_449_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Journal Of Neuromuscular Diseases

Parker, Remai R; Schiemann, Anja H AH; Langton, Elaine E; Bulger, Terasa T; Pollock, Neil N; Bjorksten, Andrew A; Gillies, Robyn R; Hutchinson, David D; Roxburgh, Richard R; Stowell, Kathryn M KM

Publication Date: 2017

Variant appearance in text: RYR1: 14752G>A

PubMed Link: 28527222

Variant Present in the following documents:

• Main text
• jnd-4-jnd170210.pdf

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RYR1: D4918N

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-7.xlsx, sheet 1

View BVdb publication page

---

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular Disorders : Nmd

Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S

Publication Date: 2013-02

Variant appearance in text: RYR1: 14752G>A

PubMed Link: 23183335

Variant Present in the following documents:

• Main text

View BVdb publication page

---