C. T. Gordon

发表

MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2018, American journal of medical genetics. Part A.

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.

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.

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

S. Lyonnet, T. Bienvenu, J. Amiel, 2018, Clinical genetics.

Respiratory and gastrointestinal dysfunctions associated with auriculo‐condylar syndrome and a homozygous PLCB4 loss‐of‐function mutation

G. Marca, C. Leoni, G. Zampino, 2016, American journal of medical genetics. Part A.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

B. Papsin, J. T. Dunnen, H. Buermans, 2015, European Journal of Human Genetics.

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

Jason M. Johnson, A. Munnich, M. Cunningham, 2014, American journal of medical genetics. Part A.

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.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

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

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

L. Faivre, S. Gorokhova, J. Amiel, 2021, Genetics in medicine : official journal of the American College of Medical 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.

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.

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

D. Horn, T. Mueller, G. Borck, 2015, Orphanet Journal of Rare Diseases.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

R. Redon, A. Rötig, G. Ravenscroft, 2016, American journal of human genetics.

Congenital Heart Defects in Patients with Deletions Upstream of SOX9

A. Visel, L. Pennacchio, S. Lyonnet, 2013, Human mutation.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

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

Altered SOX9 genital tubercle enhancer region in hypospadias

S. Lyonnet, V. Harley, R. D. Iongh, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

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.

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

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

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.

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.

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.

The RCAS retroviral expression system in the study of skeletal development

P. Farlie, Felicity A Rodda, C. T. Gordon, 2009, Developmental dynamics : an official publication of the American Association of Anatomists.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical 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.

A review of craniofacial disorders caused by spliceosomal defects

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

CXCL14 expression during chick embryonic development.

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

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.

Phenotypic variability of distal 22q11.2 copy number abnormalities

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

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

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

Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

M. Vazquez, S. Lyonnet, J. Amiel, 2015, PLoS genetics.

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.

Enhancer mutations and phenotype modularity

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

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

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

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

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

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

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

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

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

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

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.

[Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence].

S. Lyonnet, J. Amiel, S. Benko, 2011, Biologie aujourd'hui.

Efficiency of prenatal diagnosis in Pierre Robin sequence

L. Salomon, S. Lyonnet, J. Amiel, 2017, Prenatal diagnosis.

Correction: Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish

M. Vazquez, S. Lyonnet, F. Spitz, 2015, PLoS genetics.

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

N. Boddaert, C. Bole-Feysot, P. Nitschké, 2019, American journal of medical genetics. Part A.

PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

A. Rötig, S. Lyonnet, J. Amiel, 2018, Archives of Cardiovascular Diseases Supplements.

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.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

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.

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.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

D. Humphreys, P. Giampietro, E. Giannoulatou, 2020, Human molecular genetics.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

J. Rosenfeld, M. Shaw, J. Gécz, 2017, American journal of human genetics.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

M. Passos-Bueno, M. Zatz, Siulan Vendramini-Pittoli, 2017, American journal of medical genetics. Part A.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

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

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

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

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

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

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

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.

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.

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.

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

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

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

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

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.

Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype

F. Santos-Simarro, R. Mena, J. Amiel, 2022, American journal of medical genetics. Part A.

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.

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.

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

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

Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

H. Hakonarson, Tiancheng Wang, J. Amiel, 2018, The Journal of clinical endocrinology and metabolism.

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 .

Human ERMAP: an erythroid adhesion/receptor transmembrane protein.

A. Perkins, D. Chui, T. Ye, 2001, Blood cells, molecules & diseases.

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.

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

Y. Ville, N. Boddaert, P. Nitschké, 2018, American journal of medical genetics. Part A.

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.

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.

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.

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.

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

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

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

Shifeng Xue, F. Magdinier, Christopher, 2019, Nucleic acids research.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Biallelic truncating variants in VGLL2 cause syngnathia in humans

R. Khonsari, Y. Kurihara, J. Amiel, 2023, Journal of Medical Genetics.