Publications:

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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: CACNB2: 590C>T; Ser197Phe; rs150528041

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells.

International Journal Of Molecular Sciences

Zhong, Rujia R; Schimanski, Theresa T; Zhang, Feng F; Lan, Huan H; Hohn, Alyssa A; Xu, Qiang Q; Huang, Mengying M; Liao, Zhenxing Z; Qiao, Lin L; Yang, Zhen Z; Li, Yingrui Y; Zhao, Zhihan Z; Li, Xin X; Rose, Lena L; Albers, Sebastian S; Maywald, Lasse L; Müller, Jonas J; Dinkel, Hendrik H; Saguner, Ardan A; Janssen, Johannes W G JWG; Swamy, Narasimha N; Xi, Yannick Y; Lang, Siegfried S; Kleinsorge, Mandy M; Duru, Firat F; Zhou, Xiaobo X; Diecke, Sebastian S; Cyganek, Lukas L; Akin, Ibrahim I; El-Battrawy, Ibrahim I

Publication Date: 2022-07-27

Variant appearance in text: rs150528041

PubMed Link: 35955449

Variant Present in the following documents:

• Main text
• ijms-23-08313.pdf

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: CACNB2: 590C>T; S197F; rs150528041

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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Inhibitory effects on L- and N-type calcium channels by a novel CaVβ1 variant identified in a patient with autism spectrum disorder.

Naunyn-Schmiedeberg'S Archives Of Pharmacology

Despang, Patrick P; Salamon, Sarah S; Breitenkamp, Alexandra A; Kuzmenkina, Elza E; Matthes, Jan J

Publication Date: 2022-04

Variant appearance in text: CACNB2: S197F

PubMed Link: 35122502

Variant Present in the following documents:

• Main text
• 210_2022_Article_2213.pdf

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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: CACNB2: S197F; rs150528041

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.

Molecular Brain

Liao, Xiaoli X; Li, Yamin Y

Publication Date: 2020-06-22

Variant appearance in text: CACNB2: S197F

PubMed Link: 32571372

Variant Present in the following documents:

• Main text
• 13041_2020_Article_634.pdf

View BVdb publication page

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Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders.

International Journal Of Molecular Sciences

Andrade, Arturo A; Brennecke, Ashton A; Mallat, Shayna S; Brown, Julian J; Gomez-Rivadeneira, Juan J; Czepiel, Natalie N; Londrigan, Laura L

Publication Date: 2019-07-19

Variant appearance in text: CACNB2: S197F

PubMed Link: 31331039

Variant Present in the following documents:

• Main text
• ijms-20-03537.pdf

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: CACNB2: 590C>T; Ser197Phe; rs150528041

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Autism throughout genetics: Perusal of the implication of ion channels.

Brain And Behavior

Daghsni, Marwa M; Rima, Mohamad M; Fajloun, Ziad Z; Ronjat, Michel M; Brusés, Juan L JL; M'rad, Ridha R; De Waard, Michel M

Publication Date: 2018-08

Variant appearance in text: CACNB2: S197F

PubMed Link: 29934975

Variant Present in the following documents:

• Main text
• BRB3-8-e00978.pdf

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Molecular Genetics & Genomic Medicine

Hauser, Natalie S NS; Solomon, Benjamin D BD; Vilboux, Thierry T; Khromykh, Alina A; Baveja, Rajiv R; Bodian, Dale L DL

Publication Date: 2018-03

Variant appearance in text: CACNB2: S197F

PubMed Link: 29368431

Variant Present in the following documents:

• MGG3-6-200-s002.xlsx, sheet 2

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs150528041

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: rs150528041

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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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: CACNB2: S197F

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.

Progress In Neurobiology

Heyes, Samuel S; Pratt, Wendy S WS; Rees, Elliott E; Dahimene, Shehrazade S; Ferron, Laurent L; Owen, Michael J MJ; Dolphin, Annette C AC

Publication Date: 2015-11

Variant appearance in text: CACNB2: S197F

PubMed Link: 26386135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs150528041

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.

Plos One

Breitenkamp, Alexandra F S AF; Matthes, Jan J; Nass, Robert Daniel RD; Sinzig, Judith J; Lehmkuhl, Gerd G; Nürnberg, Peter P; Herzig, Stefan S

Publication Date: 2014

Variant appearance in text: CACNB2: S197F; rs150528041

PubMed Link: 24752249

Variant Present in the following documents:

• Main text
• pone.0095579.pdf

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics

Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP

Publication Date: 2013-10-03

Variant appearance in text: rs150528041

PubMed Link: 24055113

Variant Present in the following documents:

• Main text

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