1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018) Authors: Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019) Authors: Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2. (11th March 2018) Authors: Lance, Sean; Mossman, Stuart; Poke, Gemma Other Names: Moonis Majaz Academic Editor. Journal: Case reports in neurological medicine Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand. (14th December 2021) Authors: Gear, Russell; Poke, Gemma; Neas, Katherine; Finnigan, Jacqui; Cassidy, Sharon; Forsyth, Deanna; Blishen, Mo; Purvis, Diana Journal: Australasian journal of dermatology Issue: Volume 63:Number 1(2022) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children. (28th March 2023) Authors: Poke, Gemma; Stanley, James; Scheffer, Ingrid E.; Sadleir, Lynette G. Journal: Neurology Issue: Volume 100:Number 13(2023) Page Start: e1363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Issue 9 (15th July 2020) Authors: Abdelfattah, Fatima; Kariminejad, Ariana; Kahlert, Anne‐Karin; Morrison, Patrick J.; Gumus, Evren; Mathews, Katherine D.; Darbro, Benjamin W.; Amor, David J.; Walsh, Maie; Sznajer, Yves; Weiß, Luisa; Weidensee, Sabine; Chitayat, David; Shannon, Patrick; Bermejo‐Sánchez, Eva; Riaño‐Galán, Isolina;... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the phenotypic spectrum associated with DPF2: A new case report. Issue 8 (17th June 2019) Authors: Knapp, Karen M; Poke, Gemma; Jenkins, Danielle; Truter, Werner; Bicknell, Louise S. Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?. Issue 5 (5th August 2019) Authors: Taylor, Shelby; Rodrigues, Miriam; Poke, Gemma; Wake, Samantha; McEwen, Alison Journal: Journal of genetic counseling Issue: Volume 28:Issue 5(2019) Page Start: 1029 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?1. Issue 5 (5th August 2019) Authors: Taylor, Shelby; Rodrigues, Miriam; Poke, Gemma; Wake, Samantha; McEwen, Alison Journal: Journal of genetic counseling Issue: Volume 28:Issue 5(2019) Page Start: 1029 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant. Issue 12 (4th December 2018) Authors: Sirisomboonwong, Korawan E.; Martindale, Joanne; Keefe, Martin; Goudie, David; Poke, Gemma Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2892 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗