PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Anne Guimier; Melanie Achleitner; Anne Moreau de Bellaing; Matthew Edwards; Loïc de Pontual; Kirti Mittal; Kyla E Dunn; Megan E Grove; Carolyn J Tysoe; Clémantine Dimartino; Jessie Cameron; Anil Kanthi; Anju Shukla; Florence van den Broek; Diptendu Chatterjee; Charlotte L Alston; Charlotte V Knowles; Laura Brett; Jan A Till; Tessa Homfray; Paul French; Georgia Spentzou; Noha A Elserafy; Kate S Lichkus; Bindu P Sankaran; Hannah L Kennedy; Peter M George; Alexa Kidd; Saskia Wortmann; Dianna G Fisk; Tamara T Koopmann; Muhammad A Rafiq; Jason D Merker; Sumith Parikh; Priyanka Ahimaz; Robert G Weintraub; Alan S Ma; Christian Turner; Carolyn J Ellaway; Liza K Phillips; David R Thorburn; Wendy K Chung; Sajel L Kana; Ona M Faye-Petersen; Michelle L Thompson; Alexandre Janin; Karen McLeod; Ruth McGowan; Robert McFarland; Katta M Girisha; Deborah J Morris-Rosendahl; Anna C E Hurst; Claire L S Turner; Robert M Hamilton; Robert W Taylor; Fanny Bajolle; Christopher T Gordon; Jeanne Amiel; Johannes A. Mayr; Kit Doudney

doi:10.1016/j.gim.2022.02.002

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Anne Guimier, Melanie Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Kirti Mittal, Kyla E Dunn, Megan E Grove, Carolyn J Tysoe, Clémantine Dimartino, Jessie Cameron, Anil Kanthi, Anju Shukla, Florence van den Broek, Diptendu Chatterjee, Charlotte L Alston, Charlotte V Knowles, Laura Brett, Jan A Till, Tessa HomfrayPaul French, Georgia Spentzou, Noha A Elserafy, Kate S Lichkus, Bindu P Sankaran, Hannah L Kennedy, Peter M George, Alexa Kidd, Saskia Wortmann (Co-author), Dianna G Fisk, Tamara T Koopmann, Muhammad A Rafiq, Jason D Merker, Sumith Parikh, Priyanka Ahimaz, Robert G Weintraub, Alan S Ma, Christian Turner, Carolyn J Ellaway, Liza K Phillips, David R Thorburn, Wendy K Chung, Sajel L Kana, Ona M Faye-Petersen, Michelle L Thompson, Alexandre Janin, Karen McLeod, Ruth McGowan, Robert McFarland, Katta M Girisha, Deborah J Morris-Rosendahl, Anna C E Hurst, Claire L S Turner, Robert M Hamilton, Robert W Taylor, Fanny Bajolle, Christopher T Gordon, Jeanne Amiel, Johannes A. Mayr (Co-author), Kit Doudney

Department of Pediatrics

Research output: Contribution to journal › Correction › peer-review

3 Citations (Web of Science)

Original language	English
Pages (from-to)	967
Journal	GENETICS IN MEDICINE
Volume	24
Issue number	4
DOIs	https://doi.org/10.1016/j.gim.2022.02.002
Publication status	Published - 2022

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10.1016/j.gim.2022.02.002

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Guimier, A., Achleitner, M., Moreau de Bellaing, A., Edwards, M., de Pontual, L., Mittal, K., Dunn, K. E., Grove, M. E., Tysoe, C. J., Dimartino, C., Cameron, J., Kanthi, A., Shukla, A., van den Broek, F., Chatterjee, D., Alston, C. L., Knowles, C. V., Brett, L., Till, J. A., ... Doudney, K. (2022). PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE , 24(4), 967. https://doi.org/10.1016/j.gim.2022.02.002

Guimier, Anne ; Achleitner, Melanie ; Moreau de Bellaing, Anne et al. / PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. In: GENETICS IN MEDICINE 2022 ; Vol. 24, No. 4. pp. 967.

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title = "PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.",

author = "Anne Guimier and Melanie Achleitner and {Moreau de Bellaing}, Anne and Matthew Edwards and {de Pontual}, Lo{\"i}c and Kirti Mittal and Dunn, {Kyla E} and Grove, {Megan E} and Tysoe, {Carolyn J} and Cl{\'e}mantine Dimartino and Jessie Cameron and Anil Kanthi and Anju Shukla and {van den Broek}, Florence and Diptendu Chatterjee and Alston, {Charlotte L} and Knowles, {Charlotte V} and Laura Brett and Till, {Jan A} and Tessa Homfray and Paul French and Georgia Spentzou and Elserafy, {Noha A} and Lichkus, {Kate S} and Sankaran, {Bindu P} and Kennedy, {Hannah L} and George, {Peter M} and Alexa Kidd and Saskia Wortmann and Fisk, {Dianna G} and Koopmann, {Tamara T} and Rafiq, {Muhammad A} and Merker, {Jason D} and Sumith Parikh and Priyanka Ahimaz and Weintraub, {Robert G} and Ma, {Alan S} and Christian Turner and Ellaway, {Carolyn J} and Phillips, {Liza K} and Thorburn, {David R} and Chung, {Wendy K} and Kana, {Sajel L} and Faye-Petersen, {Ona M} and Thompson, {Michelle L} and Alexandre Janin and Karen McLeod and Ruth McGowan and Robert McFarland and Girisha, {Katta M} and Morris-Rosendahl, {Deborah J} and Hurst, {Anna C E} and Turner, {Claire L S} and Hamilton, {Robert M} and Taylor, {Robert W} and Fanny Bajolle and Gordon, {Christopher T} and Jeanne Amiel and Mayr, {Johannes A.} and Kit Doudney",

year = "2022",

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volume = "24",

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Guimier, A, Achleitner, M, Moreau de Bellaing, A, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, Cameron, J, Kanthi, A, Shukla, A, van den Broek, F, Chatterjee, D, Alston, CL, Knowles, CV, Brett, L, Till, JA, Homfray, T, French, P, Spentzou, G, Elserafy, NA, Lichkus, KS, Sankaran, BP, Kennedy, HL, George, PM, Kidd, A, Wortmann, S, Fisk, DG, Koopmann, TT, Rafiq, MA, Merker, JD, Parikh, S, Ahimaz, P, Weintraub, RG, Ma, AS, Turner, C, Ellaway, CJ, Phillips, LK, Thorburn, DR, Chung, WK, Kana, SL, Faye-Petersen, OM, Thompson, ML, Janin, A, McLeod, K, McGowan, R, McFarland, R, Girisha, KM, Morris-Rosendahl, DJ, Hurst, ACE, Turner, CLS, Hamilton, RM, Taylor, RW, Bajolle, F, Gordon, CT, Amiel, J, Mayr, JA & Doudney, K 2022, 'PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.', GENETICS IN MEDICINE , vol. 24, no. 4, pp. 967. https://doi.org/10.1016/j.gim.2022.02.002

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. / Guimier, Anne; Achleitner, Melanie; Moreau de Bellaing, Anne et al.
In: GENETICS IN MEDICINE , Vol. 24, No. 4, 2022, p. 967.

Research output: Contribution to journal › Correction › peer-review

TY - JOUR

T1 - PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

AU - Guimier, Anne

AU - Achleitner, Melanie

AU - Moreau de Bellaing, Anne

AU - Edwards, Matthew

AU - de Pontual, Loïc

AU - Mittal, Kirti

AU - Dunn, Kyla E

AU - Grove, Megan E

AU - Tysoe, Carolyn J

AU - Dimartino, Clémantine

AU - Cameron, Jessie

AU - Kanthi, Anil

AU - Shukla, Anju

AU - van den Broek, Florence

AU - Chatterjee, Diptendu

AU - Alston, Charlotte L

AU - Knowles, Charlotte V

AU - Brett, Laura

AU - Till, Jan A

AU - Homfray, Tessa

AU - French, Paul

AU - Spentzou, Georgia

AU - Elserafy, Noha A

AU - Lichkus, Kate S

AU - Sankaran, Bindu P

AU - Kennedy, Hannah L

AU - George, Peter M

AU - Kidd, Alexa

AU - Wortmann, Saskia

AU - Fisk, Dianna G

AU - Koopmann, Tamara T

AU - Rafiq, Muhammad A

AU - Merker, Jason D

AU - Parikh, Sumith

AU - Ahimaz, Priyanka

AU - Weintraub, Robert G

AU - Ma, Alan S

AU - Turner, Christian

AU - Ellaway, Carolyn J

AU - Phillips, Liza K

AU - Thorburn, David R

AU - Chung, Wendy K

AU - Kana, Sajel L

AU - Faye-Petersen, Ona M

AU - Thompson, Michelle L

AU - Janin, Alexandre

AU - McLeod, Karen

AU - McGowan, Ruth

AU - McFarland, Robert

AU - Girisha, Katta M

AU - Morris-Rosendahl, Deborah J

AU - Hurst, Anna C E

AU - Turner, Claire L S

AU - Hamilton, Robert M

AU - Taylor, Robert W

AU - Bajolle, Fanny

AU - Gordon, Christopher T

AU - Amiel, Jeanne

AU - Mayr, Johannes A.

AU - Doudney, Kit

PY - 2022

Y1 - 2022

U2 - 10.1016/j.gim.2022.02.002

DO - 10.1016/j.gim.2022.02.002

M3 - Correction

C2 - 35394429

SN - 1098-3600

VL - 24

SP - 967

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 4

ER -

Guimier A, Achleitner M, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K et al. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. GENETICS IN MEDICINE . 2022;24(4):967. doi: 10.1016/j.gim.2022.02.002