1. Amniotic band sequence in paternal half‐siblings with vascular Ehlers–Danlos syndrome. Issue 3 (12th December 2019) Authors: Callaghan, Mary B.; Hadden, Rob; King, Jon S.; Lachlan, Katherine; van Dijk, Fleur S.; Turnpenny, Peter D. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. Issue 7 (22nd April 2020) Authors: Durkin, Anna; Albaba, Shadi; Fry, Andrew E.; Morton, Jenny E.; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker‐Touw, Catharina M.L.; Lynch, Sally A.; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J.;... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy. Issue 6 (27th July 2018) Authors: Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D.; Uhrig, Sabine; Biskup, Saskia; Döcker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R. Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. Issue 2 (April 2017) Authors: Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; Turnpenny, Peter D. Journal: Clinical dysmorphology Issue: Volume 26:Issue 2(2017:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Issue 8 (25th May 2021) Authors: Poole, Rebecca L.; Curry, Philippa D. K.; Marcinkute, Ruta; Brewer, Carole; Coman, David; Hobson, Emma; Johnson, Diana; Lynch, Sally Ann; Saggar, Anand; Searle, Claire; Scurr, Ingrid; Turnpenny, Peter D.; Vasudevan, Pradeep; Tatton‐Brown, Katrina Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019) Authors: Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete... Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. Issue 8 (31st May 2020) Authors: Childs, Alexandra J.; Mabin, David C.; Turnpenny, Peter D. Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1939 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Further delineation of phenotypic spectrum of SCN2A‐related disorder. Issue 3 (11th December 2021) Authors: Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K.; Clayton‐Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S.; McEntagart, Meriel; Parker, Michael J.; Radley, Jessica A.; Robertson, Lisa; Ruivenkamp, Cl... Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022) Authors: Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;... Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 2958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗