C. Golzio

发表

Identification of cis-suppression of human disease mutations by comparative genomics

S. Sunyaev, N. Katsanis, D. Jordan, 2015, Nature.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

A. Reymond, J. Beckmann, J. Gusella, 2012, Nature.

In vivo modeling of the morbid human genome using Danio rerio.

N. Katsanis, Edwin C. T. Oh, C. Golzio, 2013, Journal of visualized experiments : JoVE.

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans

N. Katsanis, David W. Reid, C. Nicchitta, 2014, Genetics.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

A. Munnich, S. Lyonnet, M. Vekemans, 2007, American journal of human genetics.

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

Philippe Froguel, David Meyre, Arnold Munnich, 2009, American journal of human genetics.

Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits

Margot J. Taylor, Brad E. Pfeiffer, Catherine J. Stoodley, 2020, Nature Neuroscience.

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

S. Erdin, R. Rodriguiz, W. Wetsel, 2018, Human molecular genetics.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

M. Daly, A. Reymond, J. Beckmann, 2015, American journal of human genetics.

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

M. Vekemans, C. Golzio, T. Attié-Bitach, 2006, Prenatal diagnosis.

Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance

C. Golzio, C. Keime, E. Faure, 2022, Life Science Alliance.

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Manolis Kellis, S. Haggarty, S. Erdin, 2014, Proceedings of the National Academy of Sciences.

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

N. Katsanis, G. Blobe, C. Golzio, 2012, Molecular biology of the cell.

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

A. Battaglia, E. López-Granados, J. Carey, 2019, American journal of medical genetics. Part A.

A dominant vimentin variant causes a rare syndrome with premature aging

S. Küry, B. Cogné, C. Chariau, 2020, European Journal of Human Genetics.

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

A. Munnich, H. R. Crollius, D. McBride, 2009, Nature Genetics.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

M. Hauser, N. Katsanis, J. Stajich, 2012, Nature Genetics.

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV

A. Reymond, J. Beckmann, J. Gusella, 2012, Nature.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

S. Scherer, J. Rosenfeld, E. Eichler, 2013, American journal of human genetics.

CHD8-associated gastrointestinal complaints are caused by impaired vagal neural crest development and homeostatic imbalance

C. Golzio, C. Keime, E. Faure, 2021, bioRxiv.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

A. Reymond, B. Yalcin, N. Katsanis, 2017, American journal of human genetics.

Mitochondrial Copy Number as a Biomarker for Autism?

N. Katsanis, C. Golzio, 2016, Pediatrics.

Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

C. Fallet-Bianco, A. Benachi, M. Vekemans, 2007, American journal of medical genetics. Part A.

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

A. Munnich, S. Lyonnet, G. Nuel, 2012, PloS one.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect

Arjan, T. Meitinger, H. Prokisch, 2014 .

Genetic architecture of reciprocal CNVs.

N. Katsanis, C. Golzio, 2013, Current opinion in genetics & development.

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

N. Katsanis, B. Helm, C. Golzio, 2017, Human Genomics.

Endoglin mediates fibronectin/α5β1 integrin and TGF‐β pathway crosstalk in endothelial cells

N. Katsanis, G. Blobe, C. Golzio, 2012, The EMBO journal.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

N. Katsanis, G. Blobe, W. Schiemann, 2014, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

D. J. Price, N. Katsanis, P. L. Tan, 2018, Scientific Reports.

Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome

A. Munnich, C. Picard, N. Boddaert, 2009, Human mutation.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

C. Depienne, F. Saudou, C. Bacino, 2020, Nature Communications.

Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway

Daniel M. Corey, N. Katsanis, C. Golzio, 2015, PloS one.

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.

N. Drouot, P. V. Van Ness, A. Goldman, 2020, American journal of human genetics.

Highly clustered de novo frameshift variants in the neuronal splicing factor NOVA2 result in a specific abnormal C terminal part and cause a severe form of intellectual disability with autistic features

N. Drouot, A. Goldman, A. Telegrafi, 2019, bioRxiv.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

J. Rosenfeld, J. Beckmann, J. Hirschhorn, 2013, American journal of human genetics.

Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly

N. Katsanis, L. Pilaz, C. Golzio, 2015, The Journal of Neuroscience.

Endoglin interacts with VEGFR2 to promote angiogenesis

N. Katsanis, G. Blobe, C. Golzio, 2018, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Endoglin interacts with VEGFR 2 to promote angiogenesis

N. Katsanis, G. Blobe, C. Golzio, 2018 .

Phenotypic spectrum of STRA6 mutations: from Matthew‐Wood syndrome to non‐lethal anophthalmia

P. Calvas, N. Chassaing, F. Tiziano, 2009, Human mutation.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

A. Munnich, N. Katsanis, P. Ernfors, 2015, American journal of human genetics.

Neurobiology of Disease Rbm 8 a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly

N. Katsanis, L. Pilaz, C. Golzio, 2015 .