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Refinado por: assunto: Genetics & Heredity remover
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1
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers
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Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers

Yang, Xin ; Mooij, Thea M ; Leslie, Goska ; Ficorella, Lorenzo ; Andrieu, Nadine ; Kast, Karin ; Singer, Christian F. ; Jakubowska, Anna ; van Gils, Carla H ; Tan, Yen Y ; Engel, Christoph ; Adank, Muriel A ; van Asperen, Christi J ; Ausems, Margreet G E M ; Berthet, Pascaline ; Collee, Margriet J ; Cook, Jackie A ; Eason, Jacqueline ; Spaendonck-Zwarts, Karin Y van ; Evans, D. Gareth ; Gómez García, Encarna B ; Hanson, Helen ; Izatt, Louise ; Kemp, Zoe ; Lalloo, Fiona ; Lasset, Christine ; Lesueur, Fabienne ; Musgrave, Hannah ; Nambot, Sophie ; Noguès, Catherine ; Oosterwijk, Jan C ; Stoppa-lyonnet, Dominique ; Tischkowitz, Marc ; Tripathi, Vishakha ; Wevers, Marijke R ; Zhao, Emily ; van Leeuwen, Flora E ; Schmidt, Marjanka K ; Easton, Douglas F ; Rookus, Matti A ; Antoniou, Antonis C ; Kanani, Farah ; Davidson, Rosemarie ; Snape, Katie ; Side, Lucy ; Copeland, Harriet ; Ahmed, Munaza ; Brennan, Paul ; Walker, Lisa ; Murray, Jennie ; Donaldson, Alan ; Searle, Claire ; Morrison, Patrick ; Barwell, Julian ; Rogers, Mark T ; New, Rachel Hart ; Brady, Angela ; Gallagher, David ; Miedzybrodzka, Zosia ; Conti, Hector ; Murray, Alex ; Ong, Kai-Ren ; Kennedy, John ; Gregory, Helen

Journal of medical genetics, 2024-08, Vol.61 (8), p.803-809 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
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Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project

Peter, Michelle ; Hammond, Jennifer ; Sanderson, Saskia C ; Gurasashvili, Jana ; Hunter, Amy ; Searle, Beverly ; Patch, Christine ; Chitty, Lyn S ; Hill, Melissa ; Lewis, Celine

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1407-1413 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Psychopathology in mothers of children with pathogenic Copy Number Variants
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Psychopathology in mothers of children with pathogenic Copy Number Variants

Niarchou, Maria ; Cunningham, Adam C. ; Chawner, Samuel J. R. A. ; Moulding, Hayley ; Sopp, Matthew ; Hall, Jeremy ; Owen, Michael J. ; van den Bree, Marianne B.M. ; Baker, Kate ; Dewhurst, Eleanor ; Lafont, Amy ; Raymond, F. Lucy ; Shirley, Terry ; Tilley, Hayley ; Timur, Husne ; Titterton, Catherine ; Walker, Neil ; Wallwork, Sarah ; Wicks, Francesca ; Ye, Zheng ; Erwood, Marie ; Andrews, Sophie ; Birch, Philippa ; Bowen, Samantha ; Bradley, Karen ; Challenger, Aimee ; Cuthbert, Andrew ; Holmans, Peter ; Law, Sarah ; Lewis, Nicola ; Morrison, Sinead ; Moss, Hayley ; Ray, Sinead ; Tong, Molly ; Coscini, Nadia ; Davies, Sarah ; Denaxas, Spiros ; Denyer, Hayley ; Fatih, Nasrtullah ; Juj, Manoj ; Kerry, Ellie ; Lucock, Anna ; Mandy, William ; Printzlau, Frida ; Skuse, David ; Srinivasan, Ramya ; Walker, Susan ; Watkins, Alice ; Wolstencroft, Jeanne ; Searle, Beverly ; Pelling, Anna ; Dean, John ; Robertson, Lisa ; Williams, Denise ; Donaldson, Alan ; Procter, Annie ; Berg, Jonathan ; Crow, Yanick ; Lampe, Anne ; Rankin, Julia ; Joss, Shelagh ; Chitty, Lyn ; Flinter, Frances ; Holder, Muriel ; Kraus, Alison ; Barwell, Julian ; Vasudevan, Pradeep ; Weber, Astrid ; Newman, William ; Splitt, Miranda ; Clowes, Virginia ; Dijk, Fleur van ; Harrison, Rachel ; Kini, Usha ; Quarrell, Oliver ; Baralle, Diana ; Mansour, Sahar

Journal of medical genetics, 2023-07, Vol.60 (7), p.706-711 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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4
Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse
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Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse

Giménez, Mabel D. ; Hughes, Jonathan J. ; Scascitelli, Moira ; Gabriel, Sofia I. ; Förster, Daniel W. ; Panithanarak, Thadsin ; Hauffe, Heidi C. ; Searle, Jeremy B.

Cytogenetic and genome research, 2022-12, Vol.162 (4), p.214-230 [Periódico revisado por pares]

Basel, Switzerland

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5
Characterising Mitochondrial Capture in an Iberian Shrew
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Characterising Mitochondrial Capture in an Iberian Shrew

Kunerth, Henry D ; Tapisso, Joaquim T ; Valente, Raul ; Mathias, Maria da Luz ; Alves, Paulo C ; Searle, Jeremy B ; Vega, Rodrigo ; Paupério, Joana

Genes, 2022-11, Vol.13 (12), p.2228 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Complete mitochondrial genomes of two rockfish: Sebastes maliger and Sebastes norvegicus (Scorpaenidae, Scorpaeniformes)
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Complete mitochondrial genomes of two rockfish: Sebastes maliger and Sebastes norvegicus (Scorpaenidae, Scorpaeniformes)

Campbell, Jillian R. ; Searle, Peter C. ; Kokkonen, Andrea L. ; Shiozawa, Dennis K. ; Belk, Mark C. ; Evans, R. Paul

Mitochondrial DNA. Part B. Resources, 2022-09, Vol.7 (9), p.1614-1616 [Periódico revisado por pares]

Abingdon: Taylor & Francis

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7
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
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Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

Peter, Michelle ; Hammond, Jennifer ; Sanderson, Saskia C ; Gurasashvili, Jana ; Hunter, Amy ; Searle, Beverly ; Patch, Christine ; Chitty, Lyn S ; Hill, Melissa ; Lewis, Celine

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.604-610 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Complete mitochondrial genomes of June sucker and Utah sucker (Chasmistes liorus and Catostomus ardens)
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Complete mitochondrial genomes of June sucker and Utah sucker (Chasmistes liorus and Catostomus ardens)

Searle, Peter C. ; Linde, Jackson B. ; Campbell, Jillian R. ; Kokkonen, Andrea L. ; Shiozawa, Dennis K. ; Belk, Mark C. ; Evans, R. Paul

Mitochondrial DNA. Part B. Resources, 2022-03, Vol.7 (3), p.560-562 [Periódico revisado por pares]

England: Taylor & Francis

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9
Phylogenetic relationships and the evolution of host preferences in the largest clade of brood parasitic bees (Apidae: Nomadinae)
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Phylogenetic relationships and the evolution of host preferences in the largest clade of brood parasitic bees (Apidae: Nomadinae)

Sless, Trevor J.L. ; Branstetter, Michael G. ; Gillung, Jessica P. ; Krichilsky, Erin A. ; Tobin, Kerrigan B. ; Straka, Jakub ; Rozen, Jerome G. ; Freitas, Felipe V. ; Martins, Aline C. ; Bossert, Silas ; Searle, Jeremy B. ; Danforth, Bryan N.

Molecular phylogenetics and evolution, 2022-01, Vol.166, p.107326-107326, Article 107326 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project
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Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project

Lewis, Celine ; Hammond, Jennifer ; Hill, Melissa ; Searle, Beverly ; Hunter, Amy ; Patch, Christine ; Chitty, Lyn S. ; Sanderson, Saskia C.

European journal of medical genetics, 2020-11, Vol.63 (11), p.104043-104043, Article 104043 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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