Publications:

---

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: HCN4: V759I; rs62641689

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Genetic Complexity of Sinoatrial Node Dysfunction.

Frontiers In Genetics

Wallace, Michael J MJ; El Refaey, Mona M; Mesirca, Pietro P; Hund, Thomas J TJ; Mangoni, Matteo E ME; Mohler, Peter J PJ

Publication Date: 2021

Variant appearance in text: HCN4: V759I

PubMed Link: 33868385

Variant Present in the following documents:

• Main text
• fgene-12-654925.pdf

View BVdb publication page

---

Disease-associated HCN4 V759I variant is not sufficient to impair cardiac pacemaking.

Pflugers Archiv : European Journal Of Physiology

Erlenhardt, Nadine N; Kletke, Olaf O; Wohlfarth, Franziska F; Komadowski, Marlene A MA; Clasen, Lukas L; Makimoto, Hisaki H; Rinné, Susanne S; Kelm, Malte M; Jungen, Christiane C; Decher, Niels N; Meyer, Christian C; Klöcker, Nikolaj N

Publication Date: 2020-12

Variant appearance in text: HCN4: 2275G>A; V759I

PubMed Link: 33095298

Variant Present in the following documents:

• Main text
• 424_2020_Article_2481.pdf

View BVdb publication page

---

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology

Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2020

Variant appearance in text: HCN4: Val759Ile

PubMed Link: 33013630

Variant Present in the following documents:

• Main text
• fneur-11-00925.pdf

View BVdb publication page

---

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine

Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2019-12-17

Variant appearance in text: HCN4: 2275G>A; Val759Ile; rs62641689

PubMed Link: 31847883

Variant Present in the following documents:

• 13073_2019_702_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

---

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: HCN4: V759I

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 20

View BVdb publication page

---

Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

European Journal Of Human Genetics : Ejhg

Paludan-Müller, Christian C; Ghouse, Jonas J; Vad, Oliver B OB; Herfelt, Cecilie B CB; Lundegaard, Pia P; Ahlberg, Gustav G; Schmitt, Nicole N; Svendsen, Jesper H JH; Haunsø, Stig S; Bundgaard, Henning H; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS

Publication Date: 2019-09

Variant appearance in text: HCN4: Val759Ile; rs62641689

PubMed Link: 31043699

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

---

Corrigendum: Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Frontiers In Cardiovascular Medicine

Rueda, Manuel M; Wagner, Jennifer L JL; Phillips, Tierney C TC; Topol, Sarah E SE; Muse, Evan D ED; Lucas, Jonathan R JR; Wagner, Glenn N GN; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2017

Variant appearance in text: HCN4: 2275G>A; Val759Ile

PubMed Link: 29393933

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

---

Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Frontiers In Cardiovascular Medicine

Rueda, Manuel M; Wagner, Jennifer L JL; Phillips, Tierney C TC; Topol, Sarah E SE; Muse, Evan D ED; Lucas, Jonathan R JR; Wagner, Glenn N GN; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2017

Variant appearance in text: HCN4: 2275G>A; Val759Ile

PubMed Link: 29181379

Variant Present in the following documents:

• Main text
• fcvm-04-00072.pdf

View BVdb publication page

---

Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.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: HCN4: 2275G>A; Val759Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Molecular Autopsy for Sudden Unexpected Death.

Jama

Torkamani, Ali A; Muse, Evan D ED; Spencer, Emily G EG; Rueda, Manuel M; Wagner, Glenn N GN; Lucas, Jonathan R JR; Topol, Eric J EJ

Publication Date: 2016-10-11

Variant appearance in text: HCN4: V759I

PubMed Link: 27727376

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

---

Pacemaker activity of the human sinoatrial node: an update on the effects of mutations in HCN4 on the hyperpolarization-activated current.

International Journal Of Molecular Sciences

Verkerk, Arie O AO; Wilders, Ronald R

Publication Date: 2015-01-29

Variant appearance in text: HCN4: V759I

PubMed Link: 25642760

Variant Present in the following documents:

• Main text
• ijms-16-03071.pdf

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: HCN4: V759I; rs62641689

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.

Brain Pathology (Zurich, Switzerland)

Tu, Emily E; Waterhouse, Louise L; Duflou, Johan J; Bagnall, Richard D RD; Semsarian, Christopher C

Publication Date: 2011-11

Variant appearance in text: rs62641689

PubMed Link: 21615589

Variant Present in the following documents:

• Main text

View BVdb publication page

---