P. Edery
发表
A. Toutain,
A. Wilkie,
J. Galbany,
2019,
Human mutation.
E. Bourel-ponchel,
D. Ville,
A. Saâd,
2016,
Clinical genetics.
A. Leutenegger,
F. Clerget-Darpoux,
R. Touraine,
2011,
Science.
Elodie Ey,
Thomas Bourgeron,
Roberto Toro,
2014,
PLoS genetics.
Ethan M. Goldberg,
A. Munnich,
E. Goldberg,
2018,
Genetics in Medicine.
R. Touraine,
E. Bourel-ponchel,
D. Ville,
2015,
European journal of medical genetics.
Véronique Geoffroy,
Claire Redin,
Jean Muller,
2014,
Journal of Medical Genetics.
Marni J. Falk,
E. Zackai,
E. Mercuri,
2015,
Journal of Medical Genetics.
A. Afenjar,
N. Philip,
A. Verloes,
2010,
Journal of Medical Genetics.
J. Tolmie,
E. Tobias,
B. Gener,
2010,
Human mutation.
N. Philip,
P. Calvas,
N. Lévy,
2019,
Orphanet Journal of Rare Diseases.
P. Franco,
V. Portes,
A. Poisson,
2015,
Orphanet Journal of Rare Diseases.
P. Franco,
V. Portes,
A. Poisson,
2015,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
L. Mulligan,
C. Eng,
1995,
Human molecular genetics.
E. Decullier,
M. Till,
G. Lesca,
2013,
European journal of medical genetics.
G. Captier,
H. Kayserili,
M. Vezain,
2018,
American journal of medical genetics. Part A.
E. Solary,
A. Hammann,
J. Thevenon,
2019,
Journal of Molecular Medicine.
M. Till,
P. Edery,
G. Lesca,
2005,
Clinical genetics.
F. Rivier,
A. Destrée,
C. Philippe,
2012,
European Journal of Human Genetics.
D. Sillence,
A. Munnich,
J. Melki,
2009,
European Journal of Human Genetics.
D. Sanlaville,
A. Labalme,
A. Putoux,
2014,
American journal of medical genetics. Part A.
L. Bouneau,
S. Julia,
P. Calvas,
2015
.
C. Boileau,
P. Arnaud,
J. Zech,
2020,
Cytogenetic and Genome Research.
E. Decullier,
J. Zech,
S. Dupuis-Girod,
2020,
Journal of clinical medicine.
J. Mandel,
B. Gilbert-Dussardier,
J. Thevenon,
2017,
European Journal of Human Genetics.
Salima El-Chehadeh,
J. Mandel,
S. Gras,
2014
.
A. Offiah,
R. Bouvier,
G. Andria,
2015,
Pediatric Radiology.
N. Philip,
M. Till,
G. Lesca,
2011,
American journal of medical genetics. Part A.
M. Polak,
N. Boddaert,
A. Brice,
2017,
Journal of Medical Genetics.
D. Ville,
V. des Portes,
J. Lemke,
2017,
European Journal of Human Genetics.
P. Kind,
J. Hentschel,
D. Mitter,
2018,
Brain : a journal of neurology.
H. Mefford,
O. Devinsky,
A. Bayat,
2022,
EBioMedicine.
I. Durieu,
P. Souquet,
A. Boespflug,
2013,
Lung cancer.
A. Munnich,
G. Lenoir,
S. Lyonnet,
1998,
The Journal of clinical investigation.
A. Munnich,
C. Eng,
S. Lyonnet,
1997,
BioEssays : news and reviews in molecular, cellular and developmental biology.
D. Scott,
L. Cuisset,
J. Berthelot,
2002,
American journal of human genetics.
P. Derambure,
P. Fergelot,
S. Rheims,
2021,
Orphanet Journal of Rare Diseases.
L. Faivre,
H. Dollfus,
P. Jonveaux,
2010,
Journal of Medical Genetics.
M. Nicolino,
M. Till,
G. Lesca,
2020,
European journal of medical genetics.
E. Blair,
L. Faivre,
C. Thauvin-Robinet,
2015,
Human molecular genetics.
J. Rivière,
S. Béjean,
J. Thevenon,
2019,
European Journal of Human Genetics.
A. Munnich,
C. Farra,
A. Verloes,
2009,
Journal of Medical Genetics.
G. Carvill,
I. Scheffer,
H. Mefford,
2016,
European Journal of Human Genetics.
A. Munnich,
C. Farra,
A. Verloes,
2009
.
A. Leutenegger,
S. Mazoyer,
R. Padgett,
2020,
PloS one.
D. Bredesen,
P. Mehlen,
M. Bordeaux,
2000,
The EMBO journal.
R. Touraine,
M. Till,
D. Sanlaville,
2010,
American journal of medical genetics. Part A.
R. Touraine,
N. Lévy,
P. Edery,
2006,
American journal of medical genetics. Part A.
J. Soulier,
P. Rohrlich,
C. Borg,
2014,
Journal of Hematology & Oncology.
G. Chesnoy-Servanin,
A. Poisson,
D. Sanlaville,
2014,
BMC Medical Genetics.
M. Till,
G. Lesca,
D. Sanlaville,
2015,
American journal of medical genetics. Part A.
R. Touraine,
A. Vasiljevic,
V. Portes,
2013,
European journal of medical genetics.
R. Touraine,
D. Ville,
J. Dupont,
2014,
American journal of medical genetics. Part A.
A. Battaglia,
A. Afenjar,
A. Verloes,
2008,
Epilepsia.
F. Rocco,
M. Rossi,
P. Edery,
2019,
Neuro-Chirurgie.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
S. Haas,
H. Ropers,
V. Kalscheuer,
2013,
American journal of medical genetics. Part A.
A. Munnich,
P. Rustin,
A. Rötig,
1994,
European Journal of Pediatrics.
A. Leutenegger,
R. Bordonné,
T. Attié-Bitach,
2021,
medRxiv.
V. Lazar,
S. Romana,
M. Till,
2008,
European journal of medical genetics.
A. Afenjar,
N. Philip,
S. Aftimos,
2012,
Human mutation.
A. Munnich,
D. Lacombe,
S. Lyonnet,
2003,
Journal of medical genetics.
A. Munnich,
S. Lyonnet,
J. Amiel,
1995,
Human molecular genetics.
A. Munnich,
R. Salomon,
S. Lyonnet,
1997,
Gastroenterologie clinique et biologique.
E. Génin,
A. Leutenegger,
F. Clerget-Darpoux,
2006,
American journal of human genetics.
S. Parent,
F. Moldovan,
C. Zaouter,
2013,
European Spine Journal.
M. Tischkowitz,
F. Goodman,
M. Koliou,
2004,
Clinical genetics.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
A. Verloes,
J. Andrieux,
A. Aboura,
2010,
European journal of medical genetics.
R. Touraine,
B. Gérard,
A. Piton,
2021,
neurogenetics.
D. Ville,
R. Dubois,
E. Javouhey,
2012,
American journal of medical genetics. Part A.
A. Pagnamenta,
Jenny C. Taylor,
M. Roselló,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
R. Touraine,
A. Toutain,
N. Chassaing,
2021,
Clinical genetics.
A. Afenjar,
S. Chantot-Bastaraud,
J. Siffroi,
2015,
European journal of medical genetics.
Y. Bertrand,
G. Putet,
J. Bérard,
2013,
American journal of medical genetics. Part A.
R. Touraine,
V. des Portes,
L. Thibault,
2017,
Molecular Syndromology.
P. Gaucherand,
M. Massoud,
M. Till,
2017,
Journal of gynecology obstetrics and human reproduction.
R. Hennekam,
D. Lev,
M. Vikkula,
2012,
Molecular Syndromology.
N. Drouot,
J. Mandel,
B. Gilbert-Dussardier,
2022,
bioRxiv.
A. Kariminejad,
G. Lesca,
P. Edery,
2015
.
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
C. Schmitz,
S. Mazoyer,
Laurie-Anne Sapey-Triomphe,
2020,
Human Genomics.
Allison G. Dempsey,
M. Owen,
R. Buckner,
2021,
Translational Psychiatry.
A. Munnich,
R. Hofstra,
R. Hofstra,
1996,
Nature Genetics.
P. Tam,
A. Munnich,
D. Lacombe,
1996,
Human molecular genetics.
I. Scheffer,
H. Mefford,
M. Mackay,
2020,
Genetics in Medicine.
A. Munnich,
S. Lyonnet,
M. Till,
1995,
Journal of medical genetics.
P. Denis,
P. Edery,
F. Béby,
2007,
Archives of ophthalmology.
J. Andrieux,
G. Lesca,
O. Boute,
2013,
American journal of medical genetics. Part A.
V. Brouste,
N. Sevenet,
B. Gilbert-Dussardier,
2013,
Journal of Medical Genetics.
A. Paulussen,
A. Leutenegger,
A. Toutain,
2019,
RNA.
C. Philippe,
J. Zech,
J. Lambert,
2000,
American journal of human genetics.
A. Vielle,
N. Philip,
P. Calvas,
2007,
Human mutation.
P. Edery,
S. Catteau-jonard,
T. Smol,
2019,
European journal of medical genetics.
J. Mosser,
A. Toutain,
N. Philip,
2011,
European journal of medical genetics.
M. Till,
D. Sanlaville,
P. Edery,
2008,
Pathologie-biologie.
B. Gilbert-Dussardier,
M. Claustres,
D. Lacombe,
2011,
Investigative ophthalmology & visual science.
S. Julia,
N. Philip,
M. Till,
2015,
Clinical genetics.
C. Vinciguerra,
D. Sanlaville,
A. Labalme,
2021,
Haemophilia : the official journal of the World Federation of Hemophilia.
R. Touraine,
A. Afenjar,
A. Toutain,
2019,
Journal of Medical Genetics.
A. Reymond,
A. Pagnamenta,
S. Knight,
2020,
bioRxiv.
M. Till,
G. Lesca,
N. Boutry‐Kryza,
2013,
Journal of Medical Genetics.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
bioRxiv.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
npj Genomic Medicine.
P. Ryvlin,
A. Arzimanoglou,
E. Hirsch,
2014,
Epilepsia.
S. Romana,
M. Till,
D. Sanlaville,
2008,
European journal of medical genetics.
A. Leutenegger,
S. Mazoyer,
R. Bordonné,
2022,
Nucleic acids research.
M. Polak,
A. Verloes,
D. Lacombe,
2015,
Human mutation.
A. Munnich,
L. Faivre,
M. Vekemans,
1998,
Prenatal diagnosis.
L. Pasquier,
P. Latour,
J. Andrieux,
2009,
European journal of medical genetics.
R. Touraine,
C. Chiaverini,
J. Rivière,
2017,
Genetics in Medicine.
Edouard Hirsch,
Damien Sanlaville,
Alexis Arzimanoglou,
2012,
Epilepsia.
G. Lefort,
E. Decker,
J. Puechberty,
2013,
European Journal of Human Genetics.
H. Galehdari,
T. Frebourg,
R. Maroofian,
2020,
European journal of medical genetics.
M. Till,
N. Boutry‐Kryza,
C. Turleau,
2012,
American journal of medical genetics. Part A.
M. Tardieu,
M. Vincent,
I. Ceballos-Picot,
2003,
American journal of medical genetics. Part A.
B. Ponder,
A. Munnich,
L. Mulligan,
1994,
Nature.
Rachel L. Taylor,
R. Pfundt,
M. Reijnders,
2018,
American journal of human genetics.
J. Rivière,
S. Béjean,
J. Thevenon,
2019,
European Journal of Human Genetics.
L. Faivre,
C. Thauvin-Robinet,
O. Putois,
2019,
European journal of medical genetics.
P. Latour,
G. Lina-Granade,
H. Plauchu,
2000,
Journal of medical genetics.
R. Pfundt,
G. Carvill,
I. Scheffer,
2018,
Annals of neurology.
V. Cottin,
G. Bellon,
A. Curie,
2007,
The Journal of pediatrics.
E. Tobias,
B. Lorenz,
J. Hurst,
2019,
Genetics in Medicine.
R. Touraine,
B. Gérard,
A. Piton,
2021,
neurogenetics.
G. Captier,
M. Vezain,
J. Roume,
2022,
American journal of medical genetics. Part A.
Mark T. Handley,
I. Jackson,
I. Glass,
2013,
Human mutation.
A. Munnich,
L. Faivre,
M. Vekemans,
1999,
Prenatal diagnosis.
A. Afenjar,
P. Jouk,
J. Andrieux,
2017,
American journal of medical genetics. Part A.
J. Laplanche,
S. Julia,
A. Toutain,
2015,
Genetics in Medicine.
D. Raudrant,
P. Edery,
T. Martin-Denavit,
2000,
American journal of medical genetics.
N. Philip,
A. Verloes,
D. Lacombe,
2020,
Clinical genetics.
A. Fischer,
A. Munnich,
C. Griscelli,
2001,
Journal of medical genetics.
I. Scheffer,
H. Mefford,
A. Reymond,
2022,
Epilepsia.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
A. Afenjar,
N. Le Meur,
L. Faivre,
2018,
Journal of Medical Genetics.
A. Munnich,
P. Rustin,
A. Rötig,
2000,
The Lancet.
A. Munnich,
R. Salomon,
S. Lyonnet,
1996,
Comptes rendus des seances de la Societe de biologie et de ses filiales.
A. Munnich,
L. Faivre,
M. Vekemans,
2000,
Annales de genetique.
David R. Murdock,
Michael F. Wangler,
J. Rosenfeld,
2020,
American journal of human genetics.
R. Touraine,
V. Bernard,
A. Calender,
2007,
European journal of medical genetics.
S. Lyonnet,
M. Till,
P. Edery,
1996,
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.
B. Ponder,
A. Munnich,
L. Mulligan,
1994,
Human molecular genetics.
L. Mulligan,
D. Bonneau,
L. Abel,
1994,
Journal of medical genetics.
Ethan M. Goldberg,
A. Munnich,
C. Davidson,
2018,
Genetics in Medicine.
N. Philip,
D. Bonneau,
F. Giuliano,
2004,
American journal of medical genetics. Part A.
F. Moldovan,
P. Edery,
N. Alos,
2009,
Trends in Endocrinology & Metabolism.
N. Philip,
A. Verloes,
C. Lejeune,
2020,
European journal of medical genetics.
A. Munnich,
P. Rustin,
A. Rötig,
1999,
Neuropediatrics.
V. des Portes,
S. Gazzo,
E. Callet‐Bauchu,
2015,
Cytogenetic and Genome Research.
Christian R Marshall,
Alexandre Reymond,
Paige Kaplan,
2008,
American journal of human genetics.
A. Munnich,
P. Rustin,
L. Pasquier,
2005,
Archives of Disease in Childhood.
A. Munnich,
L. Mulligan,
C. Eng,
1994,
Human Genetics.
J. Melki,
A. Toutain,
A. Verloes,
2021,
Orphanet Journal of Rare Diseases.
A. Munnich,
A. Vignal,
S. Lyonnet,
1994,
American journal of medical genetics.
V. Portes,
M. Till,
G. Lesca,
2019,
Molecular Genetics and Metabolism Reports.
N. Guex,
A. Reymond,
I. Xenarios,
2015,
European Journal of Human Genetics.
R. Touraine,
A. Verloes,
B. Gilbert-Dussardier,
2019,
Orphanet Journal of Rare Diseases.
Z. Tümer,
H. Stewart,
C. Ruivenkamp,
2015,
American journal of medical genetics. Part A.
N. Franck,
Jean-Yves Baudouin,
A. Leleu,
2016,
European Child & Adolescent Psychiatry.
M. Till,
G. Lesca,
D. Sanlaville,
2019,
Molecular genetics & genomic medicine.
V. des Portes,
M. Till,
G. Lesca,
2018,
Clinical case reports.
F. Clerget-Darpoux,
F. Moldovan,
B. Kassai,
2011,
European Journal of Human Genetics.
F. Clerget-Darpoux,
G. Rouleau,
P. Drapeau,
2019
.
M. Till,
C. Vinciguerra,
P. Edery,
2005,
Birth defects research. Part A, Clinical and molecular teratology.
A. Toutain,
N. Philip,
P. Jouk,
2023,
BMC Health Services Research.
S. Dupuis-Girod,
M. Rossi,
M. Cordier,
2014,
Orphanet Journal of Rare Diseases.
F. Clerget-Darpoux,
G. Rouleau,
P. Drapeau,
2015,
The Journal of clinical investigation.
J. Thevenon,
L. Faivre,
F. Escande,
2020,
Human mutation.
R. Hennekam,
A. Verloes,
S. Mazoyer,
2016,
Clinical genetics.
J. Bacchetta,
B. Ranchin,
R. Bouvier,
2009,
Pediatric Nephrology.
G. Lesca,
N. Chatron,
D. Sanlaville,
2017,
Clinical genetics.
T. Bourgeron,
R. Delorme,
T. Rolland,
2017,
NPJ Genomic Medicine.
R. Touraine,
H. Plauchu,
P. Edery,
2003,
American journal of medical genetics. Part A.
N. Franck,
S. Eliez,
A. Leleu,
2015,
L'Encephale.
M. Nicolino,
M. Till,
D. Sanlaville,
2009,
American journal of medical genetics. Part A.
R. Chadwick,
A. de la Chapelle,
R. Pyatt,
2001,
Journal of medical genetics.
V. Cottin,
E. Favre,
A. Poisson,
2019,
European journal of medical genetics.
P. Antoine,
D. Heron,
P. Edery,
2019,
Journal of genetic counseling.
S. Peudenier,
M. Tardieu,
A. Slama,
2001,
Neuropediatrics.
A. Fischer,
A. Munnich,
C. Griscelli,
2001,
Journal of medical genetics.
G. Matthijs,
D. Cheillan,
M. Rossi,
2015,
American journal of medical genetics. Part A.
A. Leutenegger,
S. Mazoyer,
R. Bordonné,
2023,
Proceedings of the National Academy of Sciences of the United States of America.
E. Tobias,
P. Calvas,
J. Marsh,
2019
.
M. Polak,
A. Verloes,
D. Lacombe,
2015,
Human Mutation.
S. Julia,
A. Afenjar,
A. Toutain,
2016,
Clinical genetics.
R. Touraine,
D. Ville,
V. des Portes,
2015,
European journal of medical genetics.
D. Ville,
R. Dubois,
E. Javouhey,
2012,
American journal of medical genetics. Part A.
S. Mazoyer,
L. Pasquier,
G. Lesca,
2023,
European Journal of Medical Genetics.
B. Ponder,
A. Munnich,
L. Mulligan,
1994,
Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.
M. Till,
G. Lesca,
N. Boutry‐Kryza,
2013,
Journal of Medical Genetics.
P. Cochat,
P. Edery,
A. Teixeira,
2012,
Clinical kidney journal.
Tzung-Chien Hsieh,
K. Chrzanowska,
C. Philippe,
2023,
Human genetics.
S. Patten,
H. Labelle,
S. Parent,
2010,
Studies in health technology and informatics.