Publications:

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: FLNB: E227K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

PEDIA: prioritization of exome data by image analysis.

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

Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM

Publication Date: 2019-12

Variant appearance in text: FLNB: 679G>A

PubMed Link: 31164752

Variant Present in the following documents:

• 41436_2019_566_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Molecular Genetics & Genomic Medicine

Kodra, Neslida N; Diamonstein, Callie C; Hauser, Natalie S NS

Publication Date: 2019-05

Variant appearance in text: FLNB: 679G>A; Glu227Lys

PubMed Link: 30916490

Variant Present in the following documents:

• Main text
• MGG3-7-e648.pdf

View BVdb publication page

---

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: FLNB: E227K; rs80356508

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FLNB: 679G>A; Glu227Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.

American Journal Of Physiology. Cell Physiology

Zhao, Yongtong Y; Shapiro, Sandor S SS; Eto, Masumi M

Publication Date: 2016-01-01

Variant appearance in text: FLNB: E227K

PubMed Link: 26491051

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: FLNB: E227K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

American Journal Of Human Genetics

Duff, Rachael M RM; Tay, Valerie V; Hackman, Peter P; Ravenscroft, Gianina G; McLean, Catriona C; Kennedy, Paul P; Steinbach, Alina A; Schöffler, Wiebke W; van der Ven, Peter F M PFM; Fürst, Dieter O DO; Song, Jaeguen J; Djinović-Carugo, Kristina K; Penttilä, Sini S; Raheem, Olayinka O; Reardon, Katrina K; Malandrini, Alessandro A; Gambelli, Simona S; Villanova, Marcello M; Nowak, Kristen J KJ; Williams, David R DR; Landers, John E JE; Brown, Robert H RH; Udd, Bjarne B; Laing, Nigel G NG

Publication Date: 2011-06-10

Variant appearance in text: FLNB: 679G>A; Glu227Lys

PubMed Link: 21620354

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.

Clinical Orthopaedics And Related Research

Dobbs, Matthew B MB; Boehm, Stephanie S; Grange, Dorothy K DK; Gurnett, Christina A CA

Publication Date: 2008-06

Variant appearance in text: FLNB: E227K

PubMed Link: 18322662

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Journal Of Medical Genetics

Bicknell, Louise S LS; Farrington-Rock, Claire C; Shafeghati, Yousef Y; Rump, Patrick P; Alanay, Yasemin Y; Alembik, Yves Y; Al-Madani, Navid N; Firth, Helen H; Karimi-Nejad, Mohammad Hassan MH; Kim, Chong Ae CA; Leask, Kathryn K; Maisenbacher, Melissa M; Moran, Ellen E; Pappas, John G JG; Prontera, Paolo P; de Ravel, Thomy T; Fryns, Jean-Pierre JP; Sweeney, Elizabeth E; Fryer, Alan A; Unger, Sheila S; Wilson, L C LC; Lachman, Ralph S RS; Rimoin, David L DL; Cohn, Daniel H DH; Krakow, Deborah D; Robertson, Stephen P SP

Publication Date: 2007-02

Variant appearance in text: FLNB: E227K

PubMed Link: 16801345

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Journal Of Medical Genetics

Zhang, D D; Herring, J A JA; Swaney, S S SS; McClendon, T B TB; Gao, X X; Browne, R H RH; Rathjen, K E KE; Johnston, C E CE; Harris, S S; Cain, N M NM; Wise, C A CA

Publication Date: 2006-05

Variant appearance in text: FLNB: E227K

PubMed Link: 16648377

Variant Present in the following documents:

• Main text

View BVdb publication page

---