1. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022) Authors: Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Issue 1 (12th September 2016) Authors: Gauthier‐Vasserot, Alexandra; Thauvin‐Robinet, Christel; Bruel, Ange‐Line; Duffourd, Yannis; St‐Onge, Judith; Jouan, Thibaud; Rivière, Jean‐Baptiste; Heron, Delphine; Donadieu, Jean; Bellanné‐Chantelot, Christine; Briandet, Claire; Huet, Frédéric; Kuentz, Paul; Lehalle, Daphné; Duplomb‐Jego, Laur... Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. (14th February 2020) Authors: Spencer‐Smith, Megan; Knight, Jacquelyn L; Lacaze, Emmanuelle; Depienne, Christel; Lockhart, Paul J; Richards, Linda J; Heron, Delphine; Leventer, Richard J; Robinson, Gail A Other Names: Ceslis Amelia investigator.; Gibson Emily investigator.; Giraudat Kim investigator.; McIlroy Alissandra investigator.; Paul Lynn K investigator.; Siffredi Vanessa investigator.; Bahlo Melanie investigator.; Barker Megan investigator.; Blondiaux Eleonore investigator.; Edwards Timothy J investigat... Journal: Developmental medicine & child neurology Issue: Volume 62:Number 6(2020) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Issue 5 (9th March 2018) Authors: Coton, Julie; Labalme, Audrey; Till, Marianne; Bussy, Gerald; Krifi Papoz, Sonia; Lesca, Gaetan; Heron, Delphine; Sanlaville, Damien; Edery, Patrick; des Portes, Vincent; Rossi, Massimiliano Journal: Clinical case reports Issue: Volume 6:Issue 5(2018) Page Start: 827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives. Issue 5 (16th July 2019) Authors: Geerts‐Crabbé, Laura; Antoine, Pascal; Brugallé, Elodie; Ghoumid, Jamal; Bellengier, Laurence; Edery, Patrick; Heron, Delphine; Manouvrier‐Hanu, Sylvie; Fantini‐Hauwel, Carole Journal: Journal of genetic counseling Issue: Volume 28:Issue 5(2019) Page Start: 1011 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. (21st December 2021) Authors: Castle, Alison M.R.; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C.; Heron, Delphine; Keren, Boris; Johnstone, Devon L.; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, J... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1. (December 2021) Authors: Castle, Alison M.R.; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin C.; Heron, Delphine; Keren, Boris; Johnstone, Devon L.; Mears, Wendy; Morlot, Susanne; Nguyen, Thi Tuyet Mai; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William Boyce; Jones, J... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗