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2019

International refereed journal articles

11 - 

Tumor mutational burden and response to PD-1 inhibitors in a case series of patients with metastatic desmoplastic melanoma

Lise Boussemart, Adrienne Johnson, Alexa B Schrock, Sumanta K Pal, Garrett M Frampton, David Fabrizio, Zachary Chalmers, Michal Lotem, Geoffrey Gibney, Jeffery Russell, Bartosz Chmielowski, Jeffrey S Ross, Philip J Stephens, Vincent A Miller, Siraj M Ali et al.

Journal of The American Academy of Dermatology, 2019, 80 (6), pp.1780-1782.

DOI : https://doi.org/10.1016/j.jaad.2018.12.020

Pubmed : 30576761

 

12 - 

Hybrid-capture based genomic profiling identifies BRAF V600 and non-V600 alterations in melanoma samples negative by prior testing

Lise Boussemart, Annie Nelson, Michael Wong, Jeffrey S Ross, Jeffrey Sosman, Janice Mehnert, Gregory Daniels, Kari Kendra, Siraj Mahamed M Ali, Vincent A Miller, Alexa B Schrock

Oncologist, 2019, 24 (5), pp.657-663.

DOI : https://doi.org/10.1634/theoncologist.2018-0271

Pubmed : 30683711

 

13 - 

Natural models for retinitis pigmentosa progressive retinal atrophy in dog breeds

M. Bunel, G. Chaudieu, C. Hamel, L. Lagoutte, G. Manes, N. Botherel, P. Brabet, P. Pilorge, C. André, P. Quignon

Human Genetics, 2019, 138 (5), pp.441-453.

DOI : https://doi.org/10.1007/s00439-019-01999-6

Pubmed : 30904946

 

14 - 

Liposomes Containing Nickel-Bis(dithiolene) Complexes for Photothermal Theranostics

Mathieu Ciancone, Nathalie Bellec, Sandrine Cammas-Marion, Aneline Dolet, Didier Vray, Francois Varray, Catherine Le Goff-Gaillard, Xavier Le Goff, Yannick Arlot-Bonnemains, Franck Camerel

Langmuir, 2019, 35 (47), pp.15121-15130.

DOI : https://doi.org/10.1021/acs.langmuir.9b01296

Pubmed : 31682444

 

15 - 

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans et al.

Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180.

DOI : https://doi.org/10.1186/s13023-019-1064-y

Pubmed : 31324220

 

16 - 

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

Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty Mcwalter, Patrick Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie Cohen, Moira Blyth et al.

American Journal of Human Genetics, 2019, 104 (3), pp.530-541.

DOI : https://doi.org/10.1016/j.ajhg.2019.01.010

Pubmed : 30827496

 

17 - 

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Hélène Coignard-Biehler, Nizar Mahlaoui, Benoît Pilmis, Vincent Barlogis, Pauline Brosselin, Nathalie de Vergnes, Marianne Debré, Marion Malphettes, Pierre Frange, Emilie Catherinot, Isabelle Pellier, Isabelle Durieu, Antoinette Perlat, Bruno Royer, Alain Le Quellec et al.

Journal of Clinical Immunology, 2019, 39 (7), pp.702-712.

DOI : https://doi.org/10.1007/s10875-019-00658-9

Pubmed : 31401750

 

18 - 

Neuro-radiological characteristics of adult diffuse grade II and III insular gliomas classified according to WHO 2016

Paloma Compes, Emeline Tabouret, Amandine Etcheverry, Carole Colin, Romain Appay, Nicolas Cordier, Jean Mosser, Olivier Chinot, Hervé Delingette, Nadine Girard, Henry Dufour, Philippe Metellus, Dominique Figarella-Branger

Journal of Neuro-Oncology, 2019, 142 (3), pp.511-520.

DOI : https://doi.org/10.1007/s11060-019-03122-1

Pubmed : 30756272

 

19 - 

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability Role of FLI1, ETS1, and SENCR long noncoding RNA

Solène Conrad, Florence Demurger, Kamran Moradkhani, Olivier Pichon, Cédric Le Caignec, Cécile Pascal, Caroline Thomas, Sophie Bayart, Antoinette Perlat, Christèle Dubourg, Sylvie Jaillard, Mathilde Nizon

American Journal of Medical Genetics Part A, 2019, 179 (6), pp.993-1000.

DOI : https://doi.org/10.1002/ajmg.a.61113

Pubmed : 30888095

 

20 - 

Canine neuropathies powerful spontaneous models for human hereditary sensory neuropathies

S. Correard, J. Plassais, L. Lagoutte, N. Botherel, J.-L. Thibaud, B. Hédan, L. Richard, A.-S. Lia, Valérie Delague, C. Mège, S. Mathis, E. Guaguère, M. Paradis, J.-M. Vallat, P. Quignon et al.

Human Genetics, 2019, 138 (5), pp.455-466.

DOI : https://doi.org/10.1007/s00439-019-02003-x

Pubmed : 30955094