Publications by authors named "Carine Bonnard"

37Publications

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

J Exp Med 2020 Dec;217(12)

Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore.

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http://dx.doi.org/10.1084/jem.20191561DOI Listing
December 2020

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

Am J Med Genet A 2020 Sep 13;182(9):2010-2020. Epub 2020 Jul 13.

Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61758DOI Listing
September 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.

Turk J Pediatr 2019 ;61(1):130-133

Department of Pediatric, School of Medicine, The University of Jordan, Jordan, Amman.

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http://dx.doi.org/10.24953/turkjped.2019.01.022DOI Listing
January 2020

Novel mutation in in a family with diffuse white matter lesions and inflammatory features.

Neurol Genet 2019 Aug 8;5(4):e345. Epub 2019 Jul 8.

Translational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.

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http://dx.doi.org/10.1212/NXG.0000000000000345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659136PMC
August 2019

Bone matrix hypermineralization associated with low bone turnover in a case of Nasu-Hakola disease.

Bone 2019 06 11;123:48-55. Epub 2018 Oct 11.

Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, Vienna, Austria; Orthopedic Hospital of Speising, Pediatric Department, Vienna, Austria.

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http://dx.doi.org/10.1016/j.bone.2018.10.008DOI Listing
June 2019

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

BMC Med Genet 2018 07 24;19(1):125. Epub 2018 Jul 24.

Human Genetics Unit, Faculty of Medicine, University of Colombo, 25 Kinsey Place, Colombo, 08, Sri Lanka.

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http://dx.doi.org/10.1186/s12881-018-0646-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057103PMC
July 2018

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

J Invest Dermatol 2018 02 28;138(2):291-300. Epub 2017 Sep 28.

Laboratory of Human Genetics and Embryology, Institute of Medical Biology, A*STAR, Singapore, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.08.045DOI Listing
February 2018

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

Cell 2016 Sep;167(1):187-202.e17

Institute of Medical Biology, A(∗)STAR, Singapore 138632, Singapore; Institute of Molecular and Cellular Biology, A(∗)STAR, Singapore 138632, Singapore; Medical Genetics Department, Koç University School of Medicine, 34010 Istanbul, Turkey; Department of Paediatrics, National University of Singapore, Singapore 119228, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.09.001DOI Listing
September 2016

Loss of Iroquois homeobox transcription factors 3 and 5 in osteoblasts disrupts cranial mineralization.

Bone Rep 2016 Dec 13;5:86-95. Epub 2016 Apr 13.

Department of Medicine, Division of Endocrinology and Metabolism, Institute for Human Genetics, Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA 94143-0794, USA.

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http://dx.doi.org/10.1016/j.bonr.2016.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926823PMC
December 2016

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Am J Med Genet A 2015 Nov 20;167A(11):2508-15. Epub 2015 Jul 20.

Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37248DOI Listing
November 2015

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Hum Mol Genet 2015 Jun 24;24(11):3163-71. Epub 2015 Feb 24.

Institute of Medical Biology, A*STAR, 8A Biomedical Grove, Singapore 138648, Singapore Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore

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http://dx.doi.org/10.1093/hmg/ddv067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424953PMC
June 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.

Nat Genet 2012 May 13;44(6):709-13. Epub 2012 May 13.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.2259DOI Listing
May 2012

ESR1 and EGF genetic variation in relation to breast cancer risk and survival.

Breast Cancer Res 2008 14;10(1):R15. Epub 2008 Feb 14.

Centre for Health Services Research, School of Population Health, University of Western Australia, 6009 Crawley, Perth, Western Australia.

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http://link.springer.com/content/pdf/10.1186/bcr1861.pdf
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http://breast-cancer-research.com/content/10/1/R15
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http://dx.doi.org/10.1186/bcr1861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2374971PMC
June 2008

Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.

Hum Mol Genet 2007 Jan 12;16(2):154-64. Epub 2006 Dec 12.

Department of Medical Epidemiology and Biostatistics, Karolinska Institute, 171 77 Stockholm, Sweden.

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http://hmg.oxfordjournals.org/content/16/2/154.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddl451
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http://dx.doi.org/10.1093/hmg/ddl451DOI Listing
January 2007

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease.

Mov Disord 2006 Jul;21(7):997-1001

Department of Neurology, Singapore General Hospital, Singapore.

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http://dx.doi.org/10.1002/mds.20875DOI Listing
July 2006