Publications

Mitochondries, métaux et stress oxydatif

 

2021

 

Fetal Programming by Methyl Donor Deficiency Produces Pathological Remodeling of the Ascending Aorta.

Balint B, Hergalant S, Camadro JM, Blaise S, Vanalderwiert L, Lignières L, Guéant-Rodriguez RM, Guéant JL.

Arterioscler Thromb Vasc Biol. 2021 Jun;41(6):1928-1941. doi: 10.1161/ATVBAHA.120.315587. Epub 2021 Apr 8. PMID: 33827257

 

Novel Insights into Quantitative Proteomics from an Innovative Bottom-Up Simple Light Isotope Metabolic (bSLIM) Labeling Data Processing Strategy.

Sénécaut N, Alves G, Weisser H, Lignières L, Terrier S, Yang-Crosson L, Poulain P, Lelandais G, Yu YK, Camadro JM.

J Proteome Res. 2021 Mar 5;20(3):1476-1487. doi: 10.1021/acs.jproteome.0c00478. Epub 2021 Feb 11. PMID: 33573382

 

Complex Response of the Chlorarachniophyte Bigelowiella natans to Iron Availability.

Kotabova E, Malych R, Pierella Karlusich JJ, Kazamia E, Eichner M, Mach J, Lesuisse E, Bowler C, Prášil O, Sutak R.

mSystems. 2021 Feb 9;6(1):e00738-20. doi: 10.1128/mSystems.00738-20. PMID: 33563784

 

2020

 

Iron Uptake Mechanisms in Marine Phytoplankton.

Sutak R, Camadro JM, Lesuisse E.

Front Microbiol. 2020 Nov 5;11:566691. doi: 10.3389/fmicb.2020.566691. eCollection 2020. PMID: 33250865

 

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S.

Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14. PMID: 32413283

 

Functional networks of co-expressed genes to explore iron homeostasis processes in the pathogenic yeast Candida glabrata.

Denecker T, Zhou Li Y, Fairhead C, Budin K, Camadro JM, Bolotin-Fukuhara M, Angoulvant A, Lelandais G.

NAR Genom Bioinform. 2020 Apr 20;2(2):lqaa027. doi: 10.1093/nargab/lqaa027. eCollection 2020 Jun. PMID: 33575583

 

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.

Rashka C, Hergalant S, Dreumont N, Oussalah A, Camadro JM, Marchand V, Hassan Z, Baumgartner MR, Rosenblatt DS, Feillet F, Guéant JL, Flayac J, Coelho D.

Hum Mol Genet. 2020 Jul 29;29(12):1969-1985. doi: 10.1093/hmg/ddaa027. PMID: 32068834

 

The adaptive response to iron involves changes in energetic strategies in the pathogen Candida albicans.

Duval C, Macabiou C, Garcia C, Lesuisse E, Camadro JM, Auchère F.

Microbiologyopen. 2020 Feb;9(2):e970. doi: 10.1002/mbo3.970. Epub 2019 Dec 1. PMID: 31788966

 

2019

 

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

Fragaki K, Chaussenot A, Serre V, Acquaviva C, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

Mol Genet Metab Rep. 2019 Nov 21;21:100543. doi: 10.1016/j.ymgmr.2019.100543. eCollection 2019 Dec. PMID: 31788426

 

Copper and iron metabolism in Ostreococcus tauri – the role of phytotransferrin, plastocyanin and a chloroplast copper-transporting ATPase.

Scheiber IF, Pilátová J, Malych R, Kotabova E, Krijt M, Vyoral D, Mach J, Léger T, Camadro JM, Prášil O, Lesuisse E, Sutak R.

Metallomics. 2019 Oct 16;11(10):1657-1666. doi: 10.1039/c9mt00078j. PMID: 31380866

 

LGP2 binds to PACT to regulate RIG-I- and MDA5-mediated antiviral responses.

Sanchez David RY, Combredet C, Najburg V, Millot GA, Beauclair G, Schwikowski B, Léger T, Camadro JM, Jacob Y, Bellalou J, Jouvenet N, Tangy F, Komarova AV.

Sci Signal. 2019 Oct 1;12(601):eaar3993. doi: 10.1126/scisignal.aar3993. PMID: 31575732

 

Redox modifications of cysteine-containing proteins, cell cycle arrest and translation inhibition: Involvement in vitamin C-induced breast cancer cell death.

El Banna N, Hatem E, Heneman-Masurel A, Léger T, Baïlle D, Vernis L, Garcia C, Martineau S, Dupuy C, Vagner S, Camadro JM, Huang ME.

Redox Biol. 2019 Sep;26:101290. doi: 10.1016/j.redox.2019.101290. Epub 2019 Aug 2. PMID: 31412312

 

Label-free quantitative proteomics in Candida yeast species: technical and biological replicates to assess data reproducibility.

Lelandais G, Denecker T, Garcia C, Danila N, Léger T, Camadro JM.

BMC Res Notes. 2019 Aug 1;12(1):470. doi: 10.1186/s13104-019-4505-8. PMID: 31370875

 

NDUFS6 related Leigh syndrome: a case report and review of the literature.

Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S.

J Hum Genet. 2019 Jul;64(7):637-645. doi: 10.1038/s10038-019-0594-4. Epub 2019 Apr 4. PMID: 30948790

 

AutoClassWrapper: a Python wrapper for AutoClass C classification

Camadro JM & Poulain P

The Journal of Open Source Software 2019, accepted July 25; DOI: 10.21105/joss.01390

 

In Vitro interaction between yeast frataxin and superoxide dismutases: Influence of mitochondrial metals.

Han THL, Camadro JM, Barbault F, Santos R, El Hage Chahine JM, Ha-Duong NT.

Biochim Biophys Acta Gen Subj. 2019 May;1863(5):883-892. doi: 10.1016/j.bbagen.2019.02.011. Epub 2019 Feb 21. PMID: 30797804

 

Adsorption of Proteins on m-CPPD and Urate Crystals Inhibits Crystal-induced Cell Responses: Study on Albumin-crystal Interaction.

Renaudin F, Sarda S, Campillo-Gimenez L, Séverac C, Léger T, Charvillat C, Rey C, Lioté F, Camadro JM, Ea HK, Combes C.

J Funct Biomater. 2019 Apr 25;10(2):18. doi: 10.3390/jfb10020018. PMID: 31027151

 

Pixel: a content management platform for quantitative omics data.

Denecker T, Durand W, Maupetit J, Hébert C, Camadro JM, Poulain P, Lelandais G.

PeerJ. 2019 Mar 27;7:e6623. doi: 10.7717/peerj.6623. eCollection 2019. PMID: 30944779

 

N-homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer’s disease and vascular dementia.

Bossenmeyer-Pourié C, Smith AD, Lehmann S, Deramecourt V, Sablonnière B, Camadro JM, Pourié G, Kerek R, Helle D, Umoret R, Guéant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Guéant JL.

J Pathol. 2019 Jul;248(3):291-303. doi: 10.1002/path.5254. Epub 2019 Mar 19. PMID: 30734924

 

Proteomic Landscape of Cholangiocarcinomas Reveals Three Different Subgroups According to Their Localization and the Aspect of Non-Tumor Liver.

Le Faouder J, Gigante E, Léger T, Albuquerque M, Beaufrère A, Soubrane O, Dokmak S, Camadro JM, Cros J, Paradis V.

Proteomics Clin Appl. 2019 Jan;13(1):e1800128. doi: 10.1002/prca.201800128. Epub 2018 Dec 19. PMID: 30520266

 

2018

 

AAV-8 and AAV-9 Vectors Cooperate with Serum Proteins Differently Than AAV-1 and AAV-6.

Denard J, Rouillon J, Leger T, Garcia C, Lambert MP, Griffith G, Jenny C, Camadro JM, Garcia L, Svinartchouk F.

Mol Ther Methods Clin Dev. 2018 Aug 8;10:291-302. doi: 10.1016/j.omtm.2018.08.001. eCollection 2018 Sep 21. PMID: 30155509

 

Endocytosis-mediated siderophore uptake as a strategy for Fe acquisition in diatoms.

Kazamia E, Sutak R, Paz-Yepes J, Dorrell RG, Vieira FRJ, Mach J, Morrissey J, Leon S, Lam F, Pelletier E, Camadro JM, Bowler C, Lesuisse E.

Sci Adv. 2018 May 16;4(5):eaar4536. doi: 10.1126/sciadv.aar4536. eCollection 2018 May. PMID: 29774236

 

Quantitative proteomics in Friedreich’s ataxia B-lymphocytes: A valuable approach to decipher the biochemical events responsible for pathogenesis.

Télot L, Rousseau E, Lesuisse E, Garcia C, Morlet B, Léger T, Camadro JM, Serre V.

Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):997-1009. doi: 10.1016/j.bbadis.2018.01.010. Epub 2018 Jan 9. PMID: 29329987

 

Meet-U: Educating through research immersion.

Abdollahi N, Albani A, Anthony E, Baud A, Cardon M, Clerc R, Czernecki D, Conte R, David L, Delaune A, Djerroud S, Fourgoux P, Guiglielmoni N, Laurentie J, Lehmann N, Lochard C, Montagne R, Myrodia V, Opuu V, Parey E, Polit L, Privé S, Quignot C, Ruiz-Cuevas M, Sissoko M, Sompairac N, Vallerix A, Verrecchia V, Delarue M, Guérois R, Ponty Y, Sacquin-Mora S, Carbone A, Froidevaux C, Le Crom S, Lespinet O, Weigt M, Abboud S, Bernardes J, Bouvier G, Dequeker C, Ferré A, Fuchs P, Lelandais G, Poulain P, Richard H, Schweke H, Laine E, Lopes A.

PLoS Comput Biol. 2018 Mar 15;14(3):e1005992. doi: 10.1371/journal.pcbi.1005992. eCollection 2018 Mar. PMID: 29543809

 

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S.

Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. PMID: 29681083

 

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Drecourt A, Babdor J, Dussiot M, Petit F, Goudin N, Garfa-Traoré M, Habarou F, Bole-Feysot C, Nitschké P, Ottolenghi C, Metodiev MD, Serre V, Desguerre I, Boddaert N, Hermine O, Munnich A, Rötig A.

Am J Hum Genet. 2018 Feb 1;102(2):266-277. doi: 10.1016/j.ajhg.2018.01.003. PMID: 29395073

 

2017

 

A Simple Light Isotope Metabolic Labeling (SLIM-labeling) Strategy: A Powerful Tool to Address the Dynamics of Proteome Variations In Vivo.

Léger T, Garcia C, Collomb L, Camadro JM.

Mol Cell Proteomics. 2017 Nov;16(11):2017-2031. doi: 10.1074/mcp.M117.066936. Epub 2017 Aug 18. PMID: 28821603

 

Mechanisms of iron and copper-frataxin interactions.

Han THL, Camadro JM, Santos R, Lesuisse E, El Hage Chahine JM, Ha-Duong NT.

Metallomics. 2017 Aug 16;9(8):1073-1085. doi: 10.1039/c7mt00031f. PMID: 28573291

 

Dysfunction of mitochondrial Lon protease and identification of oxidized protein in mouse brain following exposure to MPTP: Implications for Parkinson disease.

Bulteau AL, Mena NP, Auchère F, Lee I, Prigent A, Lobsiger CS, Camadro JM, Hirsch EC.

Free Radic Biol Med. 2017 Jul;108:236-246. doi: 10.1016/j.freeradbiomed.2017.03.036. Epub 2017 Mar 30. PMID: 28365360

 

Acclimation of a low iron adapted Ostreococcus strain to iron limitation through cell biomass lowering.

Botebol H, Lelandais G, Six C, Lesuisse E, Meng A, Bittner L, Lecrom S, Sutak R, Lozano JC, Schatt P, Vergé V, Blain S, Bouget FY.

Sci Rep. 2017 Mar 23;7(1):327. doi: 10.1038/s41598-017-00216-6. PMID: 28336917

 

Modulation of the specific glutathionylation of mitochondrial proteins in the yeast Saccharomyces cerevisiae under basal and stress conditions.

Gergondey R, Garcia C, Marchand CH, Lemaire SD, Camadro JM, Auchère F.

Biochem J. 2017 Mar 15;474(7):1175-1193. doi: 10.1042/BCJ20160927. PMID: 28167699

 

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V.

Hum Mol Genet. 2017 May 1;26(9):1786. doi: 10.1093/hmg/ddx130. PMID: 28475771

 

A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.

Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V.

Hum Mol Genet. 2017 May 1;26(9):1599-1611. doi: 10.1093/hmg/ddx060. PMID: 28335035

 

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM.

J Med Genet. 2017 May;54(5):346-356. doi: 10.1136/jmedgenet-2016-104212. Epub 2016 Dec 28. PMID: 28031252

 

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V.

Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. PMID: 27989324

 

2016

 

Ostreococcus tauri is a new model green alga for studying iron metabolism in eukaryotic phytoplankton.

Lelandais G, Scheiber I, Paz-Yepes J, Lozano JC, Botebol H, Pilátová J, Žárský V, Léger T, Blaiseau PL, Bowler C, Bouget FY, Camadro JM, Sutak R, Lesuisse E.

BMC Genomics. 2016 May 3;17:319. doi: 10.1186/s12864-016-2666-6. PMID: 27142620

 

The adaptive metabolic response involves specific protein glutathionylation during the filamentation process in the pathogen Candida albicans.

Gergondey R, Garcia C, Serre V, Camadro JM, Auchère F.

Biochim Biophys Acta. 2016 Jul;1862(7):1309-23. doi: 10.1016/j.bbadis.2016.04.004. Epub 2016 Apr 13. PMID: 27083931

 

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2016 Apr;139(Pt 4):e22. doi: 10.1093/brain/awv368. Epub 2015 Dec 30. PMID: 26719380

 

Insights into Brain Glycogen Metabolism: THE STRUCTURE OF HUMAN BRAIN GLYCOGEN PHOSPHORYLASE.

Mathieu C, Li de la Sierra-Gallay I, Duval R, Xu X, Cocaign A, Léger T, Woffendin G, Camadro JM, Etchebest C, Haouz A, Dupret JM, Rodrigues-Lima F.

J Biol Chem. 2016 Aug 26;291(35):18072-83. doi: 10.1074/jbc.M116.738898. Epub 2016 Jul 8. PMID: 27402852

 

A Network of Paralogous Stress Response Transcription Factors in the Human Pathogen Candida glabrata.

Merhej J, Thiebaut A, Blugeon C, Pouch J, Ali Chaouche Mel A, Camadro JM, Le Crom S, Lelandais G, Devaux F.

Front Microbiol. 2016 May 9;7:645. doi: 10.3389/fmicb.2016.00645. eCollection 2016. PMID: 27242683

 

The Metacaspase (Mca1p) Restricts O-glycosylation During Farnesol-induced Apoptosis in Candida albicans.

Léger T, Garcia C, Camadro JM.

Mol Cell Proteomics. 2016 Jul;15(7):2308-23. doi: 10.1074/mcp.M116.059378. Epub 2016 Apr 28. PMID: 27125826

 

Label-Free Quantitative Proteomics in Yeast.

Léger T, Garcia C, Videlier M, Camadro JM.

Methods Mol Biol. 2016;1361:289-307. doi: 10.1007/978-1-4939-3079-1_16. PMID: 26483028

 

2015

 

Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Oct;138(Pt 10):e386. doi: 10.1093/brain/awv116. Epub 2015 May 7. PMID: 25953779

 

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. PMID: 25681413

 

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N’Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

Brain. 2015 Aug;138(Pt 8):e373. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. PMID: 25576309

 

Central role for ferritin in the day/night regulation of iron homeostasis in marine phytoplankton.

Botebol H, Lesuisse E, Šuták R, Six C, Lozano JC, Schatt P, Vergé V, Kirilovsky A, Morrissey J, Léger T, Camadro JM, Gueneugues A, Bowler C, Blain S, Bouget FY.

Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):14652-7. doi: 10.1073/pnas.1506074112. Epub 2015 Nov 9. PMID: 26553998

 

A Yeast/Drosophila Screen to Identify New Compounds Overcoming Frataxin Deficiency.

Seguin A, Monnier V, Palandri A, Bihel F, Rera M, Schmitt M, Camadro JM, Tricoire H, Lesuisse E.

Oxid Med Cell Longev. 2015;2015:565140. doi: 10.1155/2015/565140. Epub 2015 Oct 11. PMID: 26523199

 

A novel protein, ubiquitous in marine phytoplankton, concentrates iron at the cell surface and facilitates uptake.

Morrissey J, Sutak R, Paz-Yepes J, Tanaka A, Moustafa A, Veluchamy A, Thomas Y, Botebol H, Bouget FY, McQuaid JB, Tirichine L, Allen AE, Lesuisse E, Bowler C.

Curr Biol. 2015 Feb 2;25(3):364-371. doi: 10.1016/j.cub.2014.12.004. Epub 2014 Dec 31. PMID: 25557662

 

The metacaspase (Mca1p) has a dual role in farnesol-induced apoptosis in Candida albicans.

Léger T, Garcia C, Ounissi M, Lelandais G, Camadro JM.

Mol Cell Proteomics. 2015 Jan;14(1):93-108. doi: 10.1074/mcp.M114.041210. Epub 2014 Oct 27. PMID: 25348831

 

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

Rouillon J, Poupiot J, Zocevic A, Amor F, Léger T, Garcia C, Camadro JM, Wong B, Pinilla R, Cosette J, Coenen-Stass AM, Mcclorey G, Roberts TC, Wood MJ, Servais L, Udd B, Voit T, Richard I, Svinartchouk F.

Hum Mol Genet. 2015 Sep 1;24(17):4916-32. doi: 10.1093/hmg/ddv214. Epub 2015 Jun 9. PMID: 26060189

 

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T.

Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20. PMID: 25138100