C. Gordon

发表

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

Jason M. Johnson, M. Rieder, D. Nickerson, 2012, American journal of human genetics.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

Ermap, a gene coding for a novel erythroid specific adhesion/receptor membrane protein.

A. Perkins, Y. Fujiwara, D. Chui, 1999, Gene.

Germline gain‐of‐function mutations of ALK disrupt central nervous system development

A. Munnich, O. Delattre, N. Boddaert, 2011, Human mutation.

Cis -Regulatory Disruption at the SOX9 Locus as a Cause of Pierre Robin Sequence

S. Lyonnet, J. Amiel, C. Gordon, 2012 .

Role of Dlx genes in craniofacial morphogenesis: Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo

P. Farlie, C. Gordon, Felicity A Rodda, 2010, Evolution & development.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2019, American journal of human genetics.

CXCL14 expression during chick embryonic development.

P. Farlie, C. Gordon, Inigo Brinas, 2011, The International journal of developmental biology.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

A. Munnich, B. Tüysüz, R. Maroofian, 2018, Nature Communications.

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

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

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

A. Munnich, M. Bitner-Glindzicz, E. Tobias, 2013, Journal of Medical Genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Shifeng Xue, F. Magdinier, B. Wollnik, 2019, Nucleic acids research.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

B. Papsin, R. Zechi-Ceide, N. M. Kokitsu-Nakata, 2022, Human mutation.

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

M. Dattani, M. Cunningham, S. Lyonnet, 2013, American journal of medical genetics. Part A.

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.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Laurie D. Smith, Neil A. Miller, Carol J. Saunders, 2015, Nature Genetics.

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

A. Hart, M. Wallace, B. Whittle, 2013, PloS one.

A review of craniofacial disorders caused by spliceosomal defects

D. Wieczorek, M. Passos-Bueno, R. Zechi-Ceide, 2015, Clinical genetics.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, W. Newman, 2021, Nature communications.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Carol J. Saunders, C. Saunders, A. Fry, 2021, Nature Communications.

Long-range regulation at the SOX9 locus in development and disease

D. Fitzpatrick, S. Lyonnet, P. Farlie, 2009, Journal of Medical Genetics.

development and disease locus in SOX9 Long-range regulation at the

S. Lyonnet, P. Farlie, C. Gordon, 2009 .

Enhancer mutations and phenotype modularity

S. Lyonnet, C. Gordon, Stanislas Lyonnet, 2013, Nature Genetics.

Phenotypic variability of distal 22q11.2 copy number abnormalities

J. Crolla, A. Collins, Z. Stark, 2011, American journal of medical genetics. Part A.

C/EBPδ and C/EBPγ bind the CCAAT-box in the human β-globin promoter and modulate the activity of the CACC-box binding protein, EKLF

A. Perkins, C. Gordon, V. Fox, 2005 .

C/EBPdelta and C/EBPgamma bind the CCAAT-box in the human beta-globin promoter and modulate the activity of the CACC-box binding protein, EKLF.

A. Perkins, C. Gordon, V. Fox, 2005, Biochimica et biophysica acta.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

Disruption of long‐distance highly conserved noncoding elements in neurocristopathies

S. Lyonnet, J. Amiel, C. Gordon, 2010, Annals of the New York Academy of Sciences.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

K. Devriendt, H. Firth, D. Fitzpatrick, 2014, European journal of medical genetics.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

B. Venkatesh, H. R. Crollius, F. Eisenhaber, 2021, Nature Genetics.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

M. Passos-Bueno, S. Lyonnet, J. Amiel, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Axel Visel, Morad Ansari, Arnold Munnich, 2014, Human mutation.

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up‐regulating apoptosis

P. Farlie, K. Miller, C. Gordon, 2015, Developmental dynamics : an official publication of the American Association of Anatomists.

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type

W. Newman, K. Hentges, J. Amiel, 2020, Human Mutation.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

bfb, a Novel ENU-Induced blebs Mutant Resulting from a Missense Mutation in Fras1

J. Bertram, P. Farlie, K. Miller, 2013, PloS one.

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding

M. Ikeguchi, Y. Uchijima, Y. Kurihara, 2023, The Journal of clinical investigation.

Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children

B. Chung, J. Amiel, C. Gordon, 2018, Clinical dysmorphology.