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Christelle Golzio - Publications

Affiliations: 
2005-2009 Université René Descartes Paris V, Paris, Île-de-France, France 
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26 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Asselin L, Rivera Alvarez J, Heide S, Bonnet CS, Tilly P, Vitet H, Weber C, Bacino CA, Baranaño K, Chassevent A, Dameron A, Faivre L, Hanchard NA, Mahida S, McWalter K, ... ... Golzio C, et al. Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nature Communications. 11: 2441. PMID 32415109 DOI: 10.1038/S41467-020-16294-6  0.372
2020 Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, ... ... Golzio C, et al. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 32197073 DOI: 10.1016/J.Ajhg.2020.02.013  0.39
2020 Cogné B, Bouameur JE, Hayot G, Latypova X, Pattabiraman S, Caillaud A, Si-Tayeb K, Besnard T, Küry S, Chariau C, Gaignerie A, David L, Bordure P, Kaganovich D, Bézieau S, ... Golzio C, et al. A dominant vimentin variant causes a rare syndrome with premature aging. European Journal of Human Genetics : Ejhg. PMID 32066935 DOI: 10.1038/S41431-020-0583-2  0.379
2019 Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, et al. International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. American Journal of Medical Genetics. Part A. PMID 31769173 DOI: 10.1002/Ajmg.A.61406  0.334
2018 Arbogast T, Razaz P, Ellegood J, McKinstry S, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM, Mark Henkelman R, Talkowski ME, Wetsel WC, Golzio C, Katsanis N. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Human Molecular Genetics. PMID 30590535 DOI: 10.1093/Hmg/Ddy436  0.356
2017 Helm BM, Willer JR, Sadeghpour A, Golzio C, Crouch E, Vergano SS, Katsanis N, Davis EE. Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human Genomics. 11: 16. PMID 28724397 DOI: 10.1186/s40246-017-0111-9  0.318
2017 Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, ... ... Golzio C, et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. 100: 689. PMID 28388435 DOI: 10.1016/J.Ajhg.2017.03.003  0.375
2017 Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, ... ... Golzio C, et al. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 28132691 DOI: 10.1016/J.Ajhg.2017.01.003  0.315
2016 Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, et al. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American Journal of Human Genetics. 99: 174-87. PMID 27392076 DOI: 10.1016/J.Ajhg.2016.05.028  0.339
2015 Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, ... ... Golzio C, et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. American Journal of Human Genetics. 96: 519-31. PMID 25772936 DOI: 10.1016/J.Ajhg.2015.01.015  0.484
2015 Wortmann SB, ZiÄ™tkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, ... Golzio C, et al. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. American Journal of Human Genetics. 96: 245-57. PMID 25597510 DOI: 10.1016/J.Ajhg.2014.12.013  0.376
2014 Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics. 198: 723-33. PMID 25316788 DOI: 10.1534/genetics.114.168211  0.332
2014 Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 158: 263-76. PMID 24998929 DOI: 10.1016/J.Cell.2014.06.017  0.328
2013 Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. American Journal of Human Genetics. 93: 798-811. PMID 24140112 DOI: 10.1016/J.Ajhg.2013.09.010  0.348
2013 Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, et al. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. American Journal of Human Genetics. 92: 210-20. PMID 23332918 DOI: 10.1016/J.Ajhg.2012.12.011  0.384
2012 Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genetics. 44: 450-5, S1-2. PMID 22366786 DOI: 10.1038/ng.1103  0.37
2012 Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. Plos One. 7: e30677. PMID 22303449 DOI: 10.1371/Journal.Pone.0030677  0.645
2009 Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, et al. Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. American Journal of Human Genetics. 85: 106-11. PMID 19559399 DOI: 10.1016/J.Ajhg.2009.06.002  0.686
2009 Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, Calvas P. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Human Mutation. 30: E673-81. PMID 19309693 DOI: 10.1002/Humu.21023  0.728
2009 De Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, et al. Mutational, functional, and expression studies of the TCF4 gene in pitt-hopkins syndrome Human Mutation. 30: 669-676. PMID 19235238 DOI: 10.1002/Humu.20935  0.724
2009 Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics. 41: 359-64. PMID 19234473 DOI: 10.1038/Ng.329  0.709
2009 Golzio C, Havis E, Nuel G, Babarit C, Munnich A, Vekemans M, Lyonnet S, Etchevers H. Program/Abstract # 500 Developmental Biology. 331: 528. DOI: 10.1016/J.Ydbio.2009.05.528  0.592
2007 Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. 39: 875-81. PMID 17558409 DOI: 10.1038/Ng2039  0.72
2007 Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. American Journal of Human Genetics. 80: 1179-87. PMID 17503335 DOI: 10.1086/518177  0.727
2007 Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, et al. Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2. American Journal of Medical Genetics. Part A. 143: 219-28. PMID 17236193 DOI: 10.1002/Ajmg.A.31599  0.679
2006 Golzio C, Guirchoun J, Ozilou C, Thomas S, Goudefroye G, Morichon-Delvallez N, Vekemans M, Attié-Bitach T, Etchevers HC. Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy. Prenatal Diagnosis. 26: 1201-5. PMID 17075794 DOI: 10.1002/Pd.1588  0.675
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