1. AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case. Issue 6 (9th July 2020) Authors: Ramond, Francis; Rio, Marlène; Héron, Bénédicte; Imbard, Apolline; Marie, Sandrine; Billiemaz, Kareen; Denommé‐Pichon, Anne‐Sophie; Kuentz, Paul; Ceballos, Irène; Piraud, Monique; Vincent, Marie‐Françoise; Touraine, Renaud Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Issue 1 (29th May 2020) Authors: Carmignac, Virginie; Nambot, Sophie; Lehalle, Daphné; Callier, Patrick; Moortgat, Stephanie; Benoit, Valérie; Ghoumid, Jamal; Delobel, Bruno; Smol, Thomas; Thuillier, Caroline; Zordan, Cécile; Naudion, Sophie; Bienvenu, Thierry; Touraine, Renaud; Ramond, Francis; Zweier, Christiane; Reis, André; ... Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. (2nd November 2022) Authors: Holt, Richard; Goudie, David; Verde, Alejandra Damián; Gardham, Alice; Ramond, Francis; Putoux, Audrey; Sarkar, Ajoy; Clowes, Virginia; Clayton-Smith, Jill; Banka, Siddharth; Cortazar Galarza, Laura; Thuret, Gilles; Ubeda Erviti, Marta; Zurutuza Ibarguren, Ane; Sáez Villaverde, Raquel; Tamayo Dur... Journal: Ophthalmic genetics Issue: Volume 43:Number 6(2022) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020) Authors: Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. (19th July 2022) Authors: Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M.; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A.; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; ... Journal: Neurology Issue: Volume 99:Number 3(2022) Page Start: e221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms. Issue 10 (22nd August 2019) Authors: Ramond, Francis; Quadrio, Isabelle; Le Vavasseur, Laurence; Chaumet, Hélène; Boyer, Fabrice; Bost, Muriel; Ollagnon‐Roman, Elisabeth Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 10(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Issue 2 (5th November 2020) Authors: Mazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betül; Muona, Mikko; Joensuu, Tarja H.; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F.; Lehesjoki, Anna‐Elina; Lesca, Gaetan Journal: Annals of neurology Issue: Volume 89:Issue 2(2021) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects. (21st December 2022) Authors: Bulot, Vincent; Ramond, Francis; Mauguière, François; Mazzola, Laure Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis. Issue 4 (8th February 2019) Authors: Poreau, Brice; Ramond, Francis; Harbuz, Radu; Satre, Véronique; Barro, Claire; Vettier, Claire; Adouard, Véronique; Thevenon, Julien; Jouk, Pierre‐Simon; Coutton, Charles; Touraine, Renaud; Dieterich, Klaus Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗