Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.

Lipov A, Baudic M, Lindenbaum P, Mengarelli I, O'Neill MJ, Bosada FM, Wijeyeratne Y, de la Higuera Romero L, Kooyman M, Gaudin M, Aquilina G, Beekman L, Baron E, Bertrand M, Kingsbury Z, Ross MT, Corver M, Lombardi P, Krapels I, Volders PG, Tadros R, Tuijnenburg F, van Duijvenboden K, Al-Chalabi A, Veldink JH, Jurgens SJ, Thollet A, Charpentier E, Maiano C, Mabo P, Leenhardt A, Sacher F, Houweling AC, Tan HL, Christoffels VM, Tanck MW, Grace A, Nademanee K, Khongphatthanayothin A, Glazer AM, Deleuze JF, FranceGenRef consortium, Ochoa JP, Montnach J, Waard M, Postema PG, Amin AS, Gourraud JB, Guicheney P, Roden DM, Schott JJ, Dina C, Probst V, Lambiase PD, Behr ER, Wilde AAM, Redon R, Walsh R, Barc J, Bezzina CR

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DOI: 10.64898/2026.07.07.26356386
Published: 2026 Jul 10
Container: medRxiv : the preprint server for health sciences
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.64898/2026.07.07.26356386,
  title = {Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.},
  author = {Lipov A and Baudic M and Lindenbaum P and Mengarelli I and O'Neill MJ and Bosada FM and Wijeyeratne Y and de la Higuera Romero L and Kooyman M and Gaudin M and Aquilina G and Beekman L and Baron E and Bertrand M and Kingsbury Z and Ross MT and Corver M and Lombardi P and Krapels I and Volders PG and Tadros R and Tuijnenburg F and van Duijvenboden K and Al-Chalabi A and Veldink JH and Jurgens SJ and Thollet A and Charpentier E and Maiano C and Mabo P and Leenhardt A and Sacher F and Houweling AC and Tan HL and Christoffels VM and Tanck MW and Grace A and Nademanee K and Khongphatthanayothin A and Glazer AM and Deleuze JF and FranceGenRef consortium and Ochoa JP and Montnach J and Waard M and Postema PG and Amin AS and Gourraud JB and Guicheney P and Roden DM and Schott JJ and Dina C and Probst V and Lambiase PD and Behr ER and Wilde AAM and Redon R and Walsh R and Barc J and Bezzina CR},
  year = {2026},
  journal = {medRxiv : the preprint server for health sciences},
  doi = {10.64898/2026.07.07.26356386},
  url = {https://doi.org/10.64898/2026.07.07.26356386}
}

RIS

TY  - JOUR
TI  - Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.
AU  - Lipov A
AU  - Baudic M
AU  - Lindenbaum P
AU  - Mengarelli I
AU  - O'Neill MJ
AU  - Bosada FM
AU  - Wijeyeratne Y
AU  - de la Higuera Romero L
AU  - Kooyman M
AU  - Gaudin M
AU  - Aquilina G
AU  - Beekman L
AU  - Baron E
AU  - Bertrand M
AU  - Kingsbury Z
AU  - Ross MT
AU  - Corver M
AU  - Lombardi P
AU  - Krapels I
AU  - Volders PG
AU  - Tadros R
AU  - Tuijnenburg F
AU  - van Duijvenboden K
AU  - Al-Chalabi A
AU  - Veldink JH
AU  - Jurgens SJ
AU  - Thollet A
AU  - Charpentier E
AU  - Maiano C
AU  - Mabo P
AU  - Leenhardt A
AU  - Sacher F
AU  - Houweling AC
AU  - Tan HL
AU  - Christoffels VM
AU  - Tanck MW
AU  - Grace A
AU  - Nademanee K
AU  - Khongphatthanayothin A
AU  - Glazer AM
AU  - Deleuze JF
AU  - FranceGenRef consortium
AU  - Ochoa JP
AU  - Montnach J
AU  - Waard M
AU  - Postema PG
AU  - Amin AS
AU  - Gourraud JB
AU  - Guicheney P
AU  - Roden DM
AU  - Schott JJ
AU  - Dina C
AU  - Probst V
AU  - Lambiase PD
AU  - Behr ER
AU  - Wilde AAM
AU  - Redon R
AU  - Walsh R
AU  - Barc J
AU  - Bezzina CR
PY  - 2026
JO  - medRxiv : the preprint server for health sciences
DO  - 10.64898/2026.07.07.26356386
UR  - https://doi.org/10.64898/2026.07.07.26356386
ER  -

APA

A, L., M, B., P, L., I, M., MJ, O., FM, B., Y, W., L, D. L. H. R., M, K., M, G., G, A., L, B., E, B., M, B., Z, K., MT, R., M, C., P, L., I, K., PG, V., R, T., F, T., K, V. D., A, A., JH, V., SJ, J., A, T., E, C., C, M., P, M., A, L., F, S., AC, H., HL, T., VM, C., MW, T., A, G., K, N., A, K., AM, G., JF, D., consortium, F., JP, O., J, M., M, W., PG, P., AS, A., JB, G., P, G., DM, R., JJ, S., C, D., V, P., PD, L., ER, B., AAM, W., R, R., R, W., J, B., & CR, B. (2026). Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome.. medRxiv : the preprint server for health sciences. https://doi.org/10.64898/2026.07.07.26356386

Source records

pubmed · retrieved 2026-09-27T01:11:49.335Z
europe-pmc · retrieved 2026-09-27T01:11:49.338Z