Didier Lacombe (D Lacombe)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 14

Top Venues

Journal of medical genetics

Clinical genetics

Human mutation

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics 61 (6) (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics 61 (6) (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics (2024)
Henri Margot, Adrien Pizano, Anouck Amestoy, Didier Lacombe, Camille Berges, Claire Beneteau, A Micheil Innes
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics 61 (6) (2024)
Jade Fauqueux, Simon Boussion, Caroline Thuillier, Evine Meurisse, Didier Lacombe, Marjolaine Willems, Amelie Piton, Emilie Ait-Yahya, Jamal Ghoumid, Thomas Smol
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome. Journal of medical genetics (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elizabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics 61 (6) (2024)
Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A Menke, Donatella Milani, Francesco Saettini, Cathy A Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H M Bouts, Anna M Cueto-González, Elena Dominguez-Garrido, Floor A Duijkers, Patricia Fergelot, Elisabeth Halstead, Sylvia A Huisman, Camilla Meossi, Jo Mullins, Sarah M Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N Simpson, David F Smith, Markus F Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Maria Irene Valenzuela Palafoll, Daniëlle C M Van Der Kaay, Michiel P Van Wijk, Klea Vyshka, Susan Wiley, Raoul C Hennekam
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics (2024)
Juliette Coursimault, Kévin Cassinari, Francois Lecoquierre, Olivier Quenez, Sophie Coutant, Céline Derambure, Myriam Vezain, Nathalie Drouot, Gabriella Vera, Elise Schaefer, Anaïs Philippe, Bérénice Doray, Laëtitia Lambert, Jamal Ghoumid, Thomas Smol, Mélanie Rama, Marine Legendre, Didier Lacombe, Patricia Fergelot, Robert Olaso, Anne Boland, Jean-François Deleuze, Alice Goldenberg, Pascale Saugier-Veber, Gaël Nicolas
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Human mutation (2022)
Danni Jin, Sheree A Wek, Ricardo A Cordova, Ronald C Wek, Didier Lacombe, Vincent Michaud, Karin Musier-Forsyth
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. Clinical genetics (2022)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant, Marc Bonneu, Estelle Lopez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Human genetics 140 (6) (2021)
Emma Elizabeth Palmer, Chloe Whitton, Mais O Hashem, Robin D Clark, Subhadra Ramanathan, Lois J Starr, Danita Velasco, John Karl De Dios, Emily Singh, Valerie Cormier-Daire, Maya Chopra, Lance H Rodan, Christoffer Nellaker, Shenela Lakhani, Eric James Mallack, Karin Panzer, Alpa Sidhu, Ingrid M Wentzensen, Didier Lacombe, Vincent Michaud, Fowzan Sami Alkuraya
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics 100 (4) (2021)
Elise Brischoux-Boucher, Aurélien Trimouille, Genevieve Baujat, Alice Goldenberg, E Schaefer, B Guichard, P Hannequin, G Paternoster, Sarah Baer, C Cabrol, E Weber, G Godfrin, Marion Lenoir, Didier Lacombe, Corinne Collet, Lionel Van Maldergem
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Clinical genetics 94 (3-4) (2018)

Didier Lacombe.css-eqlu8i{font-size:small;padding-left:4px;} (D Lacombe)

Publication Activity (10 Years)

Top Topics

Top Venues

Didier Lacombe (D Lacombe)