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Author/Creator Hurst, Jane A

2. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

Authors:
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der ...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 4(2017)
Page Start:
260
Record Type:
Journal Article
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3. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014)

Authors:
Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 10(2014)
Page Start:
659
Record Type:
Journal Article
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4. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. Issue 4 (6th September 2022)

Authors:
Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Våtevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, T...
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 4(2023)
Page Start:
580
Record Type:
Journal Article
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5. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Issue 5 (18th March 2016)

Authors:
Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 5(2016)
Page Start:
310
Record Type:
Journal Article
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6. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. (20th March 2020)

Authors:
Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elain...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 11(2020)
Page Start:
1900
Record Type:
Journal Article
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7. Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome. Issue 2 (August 2019)

Authors:
Welters, Alena; El-Khairi, Ranna; Dastamani, Antonia; Bachmann, Nadine; Bergmann, Carsten; Gilbert, Clare; Clement, Emma; Hurst, Jane A; Quercia, Nada; Wasserman, Jonathan D; Meissner, Thomas; Shah, Pratik; Kummer, Sebastian
Journal:
European journal of endocrinology
Issue:
Volume 181:Issue 2(2019)
Page Start:
121
Record Type:
Journal Article
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8. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Issue 11 (26th July 2018)

Authors:
Mestek-Boukhibar, Lamia; Clement, Emma; Jones, Wendy D; Drury, Suzanne; Ocaka, Louise; Gagunashvili, Andrey; Le Quesne Stabej, Polona; Bacchelli, Chiara; Jani, Nital; Rahman, Shamima; Jenkins, Lucy; Hurst, Jane A; Bitner-Glindzicz, Maria; Peters, Mark; Beales, Philip L; Williams, Hywel J
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 11(2018)
Page Start:
721
Record Type:
Journal Article
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