Publications:

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Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.

Neurology. Genetics

Massey, Sean S; Guo, Yiran Y; Riley, Lisa G LG; Van Bergen, Nicole J NJ; Sandaradura, Sarah A SA; McCusker, Elizabeth E; Tchan, Michel M; Thauvin-Robinet, Christel C; Thomas, Quentin Q; Moreau, Thibault T; Davis, Mark M; Smits, Daphne D; Mancini, Grazia M S GMS; Hakonarson, Hakon H; Cooper, Sandra S; Christodoulou, John J

Publication Date: 2023-02

Variant appearance in text: ANO10: Asp615Asn

PubMed Link: 36698452

Variant Present in the following documents:

• Main text
• NXG-2022-200054.pdf

View BVdb publication page

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ANO10 Function in Health and Disease.

Cerebellum (London, England)

Chrysanthou, Androniki A; Ververis, Antonis A; Christodoulou, Kyproula K

Publication Date: 2022-06-01

Variant appearance in text: ANO10: 1843G>A

PubMed Link: 35648332

Variant Present in the following documents:

• 12311_2022_Article_1395.pdf

View BVdb publication page

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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: ANO10: D615N; rs138000380

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Gating and Regulatory Mechanisms of TMEM16 Ion Channels and Scramblases.

Frontiers In Physiology

Le, Son C SC; Liang, Pengfei P; Lowry, Augustus J AJ; Yang, Huanghe H

Publication Date: 2021

Variant appearance in text: TMEM16K: D615N

PubMed Link: 34867487

Variant Present in the following documents:

• Main text
• fphys-12-787773.pdf

View BVdb publication page

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Interorganelle communication, aging, and neurodegeneration.

Genes & Development

Petkovic, Maja M; O'Brien, Caitlin E CE; Jan, Yuh Nung YN

Publication Date: 2021-04-01

Variant appearance in text: TMEM16K: D615N

PubMed Link: 33861720

Variant Present in the following documents:

• Main text
• 449.pdf

View BVdb publication page

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An Additional Ca2+ Binding Site Allosterically Controls TMEM16A Activation.

Cell Reports

Le, Son C SC; Yang, Huanghe H

Publication Date: 2020-12-29

Variant appearance in text: TMEM16K: D615N

PubMed Link: 33378669

Variant Present in the following documents:

• Main text
• NIHMS1658639-supplement-2.pdf
• nihms-1658639.pdf

View BVdb publication page

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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: ANO10: D615N

PubMed Link: 33281875

Variant Present in the following documents:

• Main text

View BVdb publication page

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TMEM16K is an interorganelle regulator of endosomal sorting.

Nature Communications

Petkovic, Maja M; Oses-Prieto, Juan J; Burlingame, Alma A; Jan, Lily Yeh LY; Jan, Yuh Nung YN

Publication Date: 2020-07-03

Variant appearance in text: SCAR10: Asp615Asn

PubMed Link: 32620747

Variant Present in the following documents:

• Main text
• 41467_2020_Article_17016.pdf
• 41467_2020_17016_MOESM2_ESM.pdf
• 41467_2020_17016_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ANO10: 1843G>A; D615N

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: ANO10: 1843G>A; Asp615Asn

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ANO10: 1843G>A; Asp615Asn; rs138000380

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.

Nature Communications

Bushell, Simon R SR; Pike, Ashley C W ACW; Falzone, Maria E ME; Rorsman, Nils J G NJG; Ta, Chau M CM; Corey, Robin A RA; Newport, Thomas D TD; Christianson, John C JC; Scofano, Lara F LF; Shintre, Chitra A CA; Tessitore, Annamaria A; Chu, Amy A; Wang, Qinrui Q; Shrestha, Leela L; Mukhopadhyay, Shubhashish M M SMM; Love, James D JD; Burgess-Brown, Nicola A NA; Sitsapesan, Rebecca R; Stansfeld, Phillip J PJ; Huiskonen, Juha T JT; Tammaro, Paolo P; Accardi, Alessio A; Carpenter, Elisabeth P EP

Publication Date: 2019-09-02

Variant appearance in text: TMEM16K: Asp615Asn

PubMed Link: 31477691

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11753.pdf
• 41467_2019_11753_MOESM2_ESM.pdf
• 41467_2019_11753_MOESM1_ESM.pdf

View BVdb publication page

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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: ANO10: D615N

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Respiratory chain deficiency in nonmitochondrial disease.

Neurology. Genetics

Pyle, Angela A; Nightingale, Helen J HJ; Griffin, Helen H; Abicht, Angela A; Kirschner, Janbernd J; Baric, Ivo I; Cuk, Mario M; Douroudis, Konstantinos K; Feder, Lea L; Kratz, Markus M; Czermin, Birgit B; Kleinle, Stephanie S; Santibanez-Koref, Mauro M; Karcagi, Veronika V; Holinski-Feder, Elke E; Chinnery, Patrick F PF; Horvath, Rita R

Publication Date: 2015-06

Variant appearance in text: rs138000380

PubMed Link: 27066545

Variant Present in the following documents:

• Main text
• NNG-D-15-00006.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: ANO10: D615N; rs138000380

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

View BVdb publication page

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Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Journal Of Neurology

Keogh, M J MJ; Steele, H H; Douroudis, K K; Pyle, A A; Duff, J J; Hussain, R R; Smertenko, T T; Griffin, H H; Santibanez-Koref, M M; Horvath, R R; Chinnery, P F PF

Publication Date: 2015-08

Variant appearance in text: ANO10: 1843G>A; Asp615Asn; rs138000380

PubMed Link: 25976027

Variant Present in the following documents:

• Main text
• 415_2015_Article_7772.pdf

View BVdb publication page

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ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Journal Of Neurology

Balreira, Andrea A; Boczonadi, Veronika V; Barca, Emanuele E; Pyle, Angela A; Bansagi, Boglarka B; Appleton, Marie M; Graham, Claire C; Hargreaves, Iain P IP; Rasic, Vedrana Milic VM; Lochmüller, Hanns H; Griffin, Helen H; Taylor, Robert W RW; Naini, Ali A; Chinnery, Patrick F PF; Hirano, Michio M; Quinzii, Catarina M CM; Horvath, Rita R

Publication Date: 2014-11

Variant appearance in text: ANO10: Asp615Asn; rs138000380

PubMed Link: 25182700

Variant Present in the following documents:

• Main text
• 415_2014_Article_7476.pdf

View BVdb publication page

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