Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

Marion Coolen; Nami Altin; Karthyayani Rajamani; Eva Pereira; Karine Siquier-Pernet; Lombardi E Puig; Nadjeda Moreno; Giulia Barcia; Marianne Yvert; Annie Laquerrière; Aurore Pouliet; Patrick Nitschké; Nathalie Boddaert; Antonio Rausell; Féréchté Razavi; Alexandra Afenjar; de Villemeur T Billette; Almundher Al-Maawali; Khalid Al-Thihli; Julia Baptista; Ana Beleza-Meireles; Catherine Garel; Marine Legendre; Antoinette Gelot; Lydie Burglen; Sébastien Moutton; Vincent Cantagrel

doi:10.1016/j.ajhg.2022.03.010

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

Marion Coolen^*
, Nami Altin
, Karthyayani Rajamani
, Eva Pereira
, Karine Siquier-Pernet
, Lombardi E Puig
, Nadjeda Moreno
, Giulia Barcia
, Marianne Yvert
, Annie Laquerrière
, Aurore Pouliet
, Patrick Nitschké
, Nathalie Boddaert
, Antonio Rausell
, Féréchté Razavi
, Alexandra Afenjar
, de Villemeur T Billette
, Almundher Al-Maawali
, Khalid Al-Thihli
, Julia Baptista

Ana Beleza-Meireles, Catherine Garel, Marine Legendre, Antoinette Gelot, Lydie Burglen, Sébastien Moutton, Vincent Cantagrel^*

^*Corresponding author for this work

Peninsula Medical School

Université Paris Cité
University College London
Pôle mère enfant
INSERM U1245; Rouen University Hospital
Sorbonne Université
Sultan Qaboos University
Royal Devon & Exeter NHS Foundation Trust
University Hospitals Bristol and Weston NHS Foundation Trust
Groupe hospitalier Pellegrin
Aix-Marseille Université
Centre de l’Asthme et des Allergies Hôpital d’Enfants Armand-Trousseau (APHP)

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

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Original language	English
Pages (from-to)	909-927
Number of pages	0
Journal	American Journal of Human Genetics
Volume	109
Issue number	5
Early online date	5 May 2022
DOIs	https://doi.org/10.1016/j.ajhg.2022.03.010
Publication status	Published - 5 May 2022

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10.1016/j.ajhg.2022.03.010

Manuscript-PRDM13-Revision-March22-v3 acceptedAccepted author manuscript, 381 KBLicence: CC BY-NC-ND

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Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig, L. E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette, D. V. T., Al-Maawali, A., Al-Thihli, K., ... Cantagrel, V. (2022). Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics, 109(5), 909-927. https://doi.org/10.1016/j.ajhg.2022.03.010

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title = "Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation",

author = "Marion Coolen and Nami Altin and Karthyayani Rajamani and Eva Pereira and Karine Siquier-Pernet and Puig, \{Lombardi E\} and Nadjeda Moreno and Giulia Barcia and Marianne Yvert and Annie Laquerri{\`e}re and Aurore Pouliet and Patrick Nitschk{\'e} and Nathalie Boddaert and Antonio Rausell and F{\'e}r{\'e}cht{\'e} Razavi and Alexandra Afenjar and Billette, \{de Villemeur T\} and Almundher Al-Maawali and Khalid Al-Thihli and Julia Baptista and Ana Beleza-Meireles and Catherine Garel and Marine Legendre and Antoinette Gelot and Lydie Burglen and S{\'e}bastien Moutton and Vincent Cantagrel",

year = "2022",

month = may,

day = "5",

doi = "10.1016/j.ajhg.2022.03.010",

language = "English",

volume = "109",

pages = "909--927",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Coolen, M, Altin, N, Rajamani, K, Pereira, E, Siquier-Pernet, K, Puig, LE, Moreno, N, Barcia, G, Yvert, M, Laquerrière, A, Pouliet, A, Nitschké, P, Boddaert, N, Rausell, A, Razavi, F, Afenjar, A, Billette, DVT, Al-Maawali, A, Al-Thihli, K, Baptista, J, Beleza-Meireles, A, Garel, C, Legendre, M, Gelot, A, Burglen, L, Moutton, S & Cantagrel, V 2022, 'Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation', American Journal of Human Genetics, vol. 109, no. 5, pp. 909-927. https://doi.org/10.1016/j.ajhg.2022.03.010

TY - JOUR

T1 - Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

AU - Coolen, Marion

AU - Altin, Nami

AU - Rajamani, Karthyayani

AU - Pereira, Eva

AU - Siquier-Pernet, Karine

AU - Puig, Lombardi E

AU - Moreno, Nadjeda

AU - Barcia, Giulia

AU - Yvert, Marianne

AU - Laquerrière, Annie

AU - Pouliet, Aurore

AU - Nitschké, Patrick

AU - Boddaert, Nathalie

AU - Rausell, Antonio

AU - Razavi, Féréchté

AU - Afenjar, Alexandra

AU - Billette, de Villemeur T

AU - Al-Maawali, Almundher

AU - Al-Thihli, Khalid

AU - Baptista, Julia

AU - Beleza-Meireles, Ana

AU - Garel, Catherine

AU - Legendre, Marine

AU - Gelot, Antoinette

AU - Burglen, Lydie

AU - Moutton, Sébastien

AU - Cantagrel, Vincent

PY - 2022/5/5

Y1 - 2022/5/5

UR - https://pearl.plymouth.ac.uk/pms-research/561/

U2 - 10.1016/j.ajhg.2022.03.010

DO - 10.1016/j.ajhg.2022.03.010

M3 - Article

SN - 0002-9297

VL - 109

SP - 909

EP - 927

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation

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