Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

Parvathy Venugopal; Peer Arts; Lucy Claire Fox; Annet Simons; Devendra K Hiwase; Peter G Bardy; Annette Narcis; David M Ross; Lize F D van Vulpen; Arjan Buijs; Kelly L Bolton; Bartlomiej Getta; Eliska Furlong; Tina Carter; Ingrid Krapels; Marlijn P A Hoeks; Adila Al Kindy; Farah Al Kindy; Sonja de Munnik; Pamela Evans; Mahalia S B Frank; Adam Bournazos; Sandra T Cooper; Thuong Thi Ha; Matilda R Jackson; Luis Alberto Arriola-Martinez; Kerry Phillips; Yvonne Brennan; Madhura Bakshi; Karen Ambler; Song Gao; Karin S Kassahn; Rosalie Kenyon; Kevin Hung; Milena Babic; Alan McGovern; Lesley Rawlings; Cassandra Valkulin; Lucas Dejong; Rema Fathi; Simon McRae; Nicholas Myles; Dariusz Ladon; Marjolijn C Jongmans; Roland P Kuiper; Nicola Poplawski; Pasquale M Barbaro; Piers Blombery; Anna L Brown; Christopher N Hahn; Hamish S Scott

doi:10.1182/bloodadvances.2023012331

Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

Parvathy Venugopal
, Peer Arts
, Lucy Claire Fox
, Annet Simons
, Devendra K Hiwase
, Peter G Bardy
, Annette Narcis
, David M Ross
, Lize F D van Vulpen
, Arjan Buijs
, Kelly L Bolton
, Bartlomiej Getta
, Eliska Furlong
, Tina Carter
, Ingrid Krapels
, Marlijn P A Hoeks
, Adila Al Kindy
, Farah Al Kindy
, Sonja de Munnik
, Pamela Evans

Mahalia S B Frank, Adam Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Valkulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn C Jongmans, Roland P Kuiper, Nicola Poplawski, Pasquale M Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott

Research output: Contribution to journal › Letter › Academic › peer-review

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Original language	English
Pages (from-to)	3437–3443
Number of pages	7
Journal	Blood Advances
Volume	8
Issue number	13
Early online date	25 Apr 2024
DOIs	https://doi.org/10.1182/bloodadvances.2023012331
Publication status	Published - 9 Jul 2024

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blooda_adv-2023-012331-mainFinal published version, 1.08 MBLicence: CC BY-NC-ND

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Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., Narcis, A., Ross, D. M., van Vulpen, L. F. D., Buijs, A., Bolton, K. L., Getta, B., Furlong, E., Carter, T., Krapels, I., Hoeks, M. P. A., Al Kindy, A., Al Kindy, F., de Munnik, S., ... Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437–3443. https://doi.org/10.1182/bloodadvances.2023012331

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title = "Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion",

author = "Parvathy Venugopal and Peer Arts and Fox, \{Lucy Claire\} and Annet Simons and Hiwase, \{Devendra K\} and Bardy, \{Peter G\} and Annette Narcis and Ross, \{David M\} and \{van Vulpen\}, \{Lize F D\} and Arjan Buijs and Bolton, \{Kelly L\} and Bartlomiej Getta and Eliska Furlong and Tina Carter and Ingrid Krapels and Hoeks, \{Marlijn P A\} and \{Al Kindy\}, Adila and \{Al Kindy\}, Farah and \{de Munnik\}, Sonja and Pamela Evans and Frank, \{Mahalia S B\} and Adam Bournazos and Cooper, \{Sandra T\} and Ha, \{Thuong Thi\} and Jackson, \{Matilda R\} and Arriola-Martinez, \{Luis Alberto\} and Kerry Phillips and Yvonne Brennan and Madhura Bakshi and Karen Ambler and Song Gao and Kassahn, \{Karin S\} and Rosalie Kenyon and Kevin Hung and Milena Babic and Alan McGovern and Lesley Rawlings and Cassandra Valkulin and Lucas Dejong and Rema Fathi and Simon McRae and Nicholas Myles and Dariusz Ladon and Jongmans, \{Marjolijn C\} and Kuiper, \{Roland P\} and Nicola Poplawski and Barbaro, \{Pasquale M\} and Piers Blombery and Brown, \{Anna L\} and Hahn, \{Christopher N\} and Scott, \{Hamish S\}",

year = "2024",

month = jul,

day = "9",

doi = "10.1182/bloodadvances.2023012331",

language = "English",

volume = "8",

pages = "3437–3443",

journal = "Blood Advances",

issn = "2473-9529",

publisher = "American Society of Hematology",

number = "13",

}

Venugopal, P, Arts, P, Fox, LC, Simons, A, Hiwase, DK, Bardy, PG, Narcis, A, Ross, DM, van Vulpen, LFD , Buijs, A, Bolton, KL, Getta, B, Furlong, E, Carter, T, Krapels, I, Hoeks, MPA, Al Kindy, A, Al Kindy, F, de Munnik, S, Evans, P, Frank, MSB, Bournazos, A, Cooper, ST, Ha, TT, Jackson, MR, Arriola-Martinez, LA, Phillips, K, Brennan, Y, Bakshi, M, Ambler, K, Gao, S, Kassahn, KS, Kenyon, R, Hung, K, Babic, M, McGovern, A, Rawlings, L, Valkulin, C, Dejong, L, Fathi, R, McRae, S, Myles, N, Ladon, D, Jongmans, MC, Kuiper, RP, Poplawski, N, Barbaro, PM, Blombery, P, Brown, AL, Hahn, CN & Scott, HS 2024, 'Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion', Blood Advances, vol. 8, no. 13, pp. 3437–3443. https://doi.org/10.1182/bloodadvances.2023012331

TY - JOUR

T1 - Unravelling Facets of MECOM-Associated Syndrome

T2 - Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

AU - Venugopal, Parvathy

AU - Arts, Peer

AU - Fox, Lucy Claire

AU - Simons, Annet

AU - Hiwase, Devendra K

AU - Bardy, Peter G

AU - Narcis, Annette

AU - Ross, David M

AU - van Vulpen, Lize F D

AU - Buijs, Arjan

AU - Bolton, Kelly L

AU - Getta, Bartlomiej

AU - Furlong, Eliska

AU - Carter, Tina

AU - Krapels, Ingrid

AU - Hoeks, Marlijn P A

AU - Al Kindy, Adila

AU - Al Kindy, Farah

AU - de Munnik, Sonja

AU - Evans, Pamela

AU - Frank, Mahalia S B

AU - Bournazos, Adam

AU - Cooper, Sandra T

AU - Ha, Thuong Thi

AU - Jackson, Matilda R

AU - Arriola-Martinez, Luis Alberto

AU - Phillips, Kerry

AU - Brennan, Yvonne

AU - Bakshi, Madhura

AU - Ambler, Karen

AU - Gao, Song

AU - Kassahn, Karin S

AU - Kenyon, Rosalie

AU - Hung, Kevin

AU - Babic, Milena

AU - McGovern, Alan

AU - Rawlings, Lesley

AU - Valkulin, Cassandra

AU - Dejong, Lucas

AU - Fathi, Rema

AU - McRae, Simon

AU - Myles, Nicholas

AU - Ladon, Dariusz

AU - Jongmans, Marjolijn C

AU - Kuiper, Roland P

AU - Poplawski, Nicola

AU - Barbaro, Pasquale M

AU - Blombery, Piers

AU - Brown, Anna L

AU - Hahn, Christopher N

AU - Scott, Hamish S

PY - 2024/7/9

Y1 - 2024/7/9

UR - https://www.scopus.com/pages/publications/85198533774

U2 - 10.1182/bloodadvances.2023012331

DO - 10.1182/bloodadvances.2023012331

M3 - Letter

C2 - 38662475

SN - 2473-9529

VL - 8

SP - 3437

EP - 3443

JO - Blood Advances

JF - Blood Advances

IS - 13

ER -

Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion

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