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Author/Creator Lunke, Sebastian

1. A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system. Issue 2 (18th February 2019)

Authors:
Martyn, Melissa; Kanga‐Parabia, Anaita; Lynch, Elly; James, Paul A.; Macciocca, Ivan; Trainer, Alison H.; Halliday, Jane; Keogh, Louise; Wale, Janney; Winship, Ingrid; Bogwitz, Michael; Valente, Giulia; Walsh, Maie; Downie, Lilian; Amor, David; Wallis, Mathew; Cunningham, Fiona; Burgess, Matthew;...
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 2(2019)
Page Start:
388
Record Type:
Journal Article
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2. A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort. Issue 1 (14th September 2017)

Authors:
Downie, Lilian; Halliday, Jane L; Burt, Rachel A; Lunke, Sebastian; Lynch, Elly; Martyn, Melissa; Poulakis, Zeffie; Gaff, Clara; Sung, Valerie; Wake, Melissa; Hunter, Matthew; Saunders, Kerryn; Rose, Elizabeth; Rehm, Heidi L; Amor, David J
Journal:
BMJ paediatrics open
Issue:
Volume 1:Issue 1(2017)
Page Start:
Record Type:
Journal Article
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3. AmpliVar: Mutation Detection in High‐Throughput Sequence from Amplicon‐Based Libraries. Issue 4 (16th March 2015)

Authors:
Hsu, Arthur L.; Kondrashova, Olga; Lunke, Sebastian; Love, Clare J.; Meldrum, Cliff; Marquis‐Nicholson, Renate; Corboy, Greg; Pham, Kym; Wakefield, Matthew; Waring, Paul M.; Taylor, Graham R.
Journal:
Human mutation
Issue:
Volume 36:Issue 4(2015:Apr.)
Page Start:
411
Record Type:
Journal Article
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4. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Issue 3 (25th December 2018)

Authors:
Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W...
Journal:
Human mutation
Issue:
Volume 40:Issue 3(2019)
Page Start:
267
Record Type:
Journal Article
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5. Circulating tumour cells from patients with colorectal cancer have cancer stem cell hallmarks in ex vivo culture. Issue 10 (25th July 2016)

Authors:
Grillet, Fanny; Bayet, Elsa; Villeronce, Olivia; Zappia, Luke; Lagerqvist, Ebba Louise; Lunke, Sebastian; Charafe-Jauffret, Emmanuelle; Pham, Kym; Molck, Christina; Rolland, Nathalie; Bourgaux, Jean François; Prudhomme, Michel; Philippe, Claire; Bravo, Sophie; Boyer, Jean Christophe; Canterel-Tho...
Journal:
Gut
Issue:
Volume 66:Issue 10(2017)
Page Start:
1802
Record Type:
Journal Article
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6. Cover Image, Volume 40, Issue 3. Issue 3 (10th February 2019)

Authors:
Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W...
Journal:
Human mutation
Issue:
Volume 40:Issue 3(2019)
Page Start:
i
Record Type:
Journal Article
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7. Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies. Issue 3 (15th March 2022)

Authors:
Akesson, Lauren S.; Rius, Rocio; Brown, Natasha J.; Rosenbaum, Jeremy; Donoghue, Sarah; Stormon, Michael; Chai, Charmaine; Bordador, Esmeralda; Guo, Yiran; Hakonarson, Hakon; Compton, Alison G.; Thorburn, David R.; Amarasekera, Sumudu; Marum, Justine; Monaco, Alisha; Lee, Crystle; Chong, Belinda;...
Journal:
JIMD reports
Issue:
Volume 63:Issue 3(2022)
Page Start:
240
Record Type:
Journal Article
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8. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020)

Authors:
Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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9. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review. Issue 11 (23rd September 2020)

Authors:
Tan, Natalie B.; Stapleton, Rachel; Stark, Zornitza; Delatycki, Martin B.; Yeung, Alison; Hunter, Matthew F.; Amor, David J.; Brown, Natasha J.; Stutterd, Chloe A.; McGillivray, George; Yap, Patrick; Regan, Matthew; Chong, Belinda; Fanjul Fernandez, Miriam; Marum, Justine; Phelan, Dean; Pais, Lyn...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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10. Examining the impact of regular aspirin use and PIK3CA mutations on survival in stage 2 colon cancer. Issue 1 (January 2017)

Authors:
Murphy, Caitlin; Turner, Natalie; Wong, Hui‐Li; Sinnathamby, Mathu; Tie, Jeanne; Lee, Belinda; Desai, Jayesh; Skinner, Iain; Christie, Michael; Hutchinson, Ryan; Lunke, Sebastian; Waring, Paul; Gibbs, Peter; Tran, Ben
Journal:
Internal medicine journal
Issue:
Volume 47:Issue 1(2017)
Page Start:
88
Record Type:
Journal Article
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