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Rachel Robinson

Showing results (51-60 of 61) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
Journal of Medical Genetics|March 15, 2020
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary networkAlice Garrett, Alison Callaway, Miranda Durkie, et al.
Pediatric Research|January 8, 2022
ADHD symptoms and diagnosis in adult preterms: systematic review, IPD meta-analysis, and register-linkage studyRachel Robinson, Polina Girchenko, Anna Pulakka, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
American Journal of Respiratory and Critical Care Medicine|September 17, 2020
Experimental Human Pneumococcal Colonization in Older Adults Is Feasible and Safe, Not ImmunogenicHugh Adler, Esther L German, Elena Mitsi, et al.
The Journal of Clinical Investigation|July 31, 2019
Innate and adaptive nasal mucosal immune responses following experimental human pneumococcal colonizationSimon P Jochems, Karin de Ruiter, Carla Solórzano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.
Journal of Medical Genetics|December 28, 2023
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory surveySophie Allen, Lucy Loong, Alice Garrett, et al.
Journal of Medical Genetics|December 26, 2022
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory recordsLucy Loong, Catherine Huntley, Fiona McRonald, et al.
American Journal of Human Genetics|October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
Journal of Medical Genetics|March 15, 2020
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary networkAlice Garrett, Alison Callaway, Miranda Durkie, et al.
Pediatric Research|January 8, 2022
ADHD symptoms and diagnosis in adult preterms: systematic review, IPD meta-analysis, and register-linkage studyRachel Robinson, Polina Girchenko, Anna Pulakka, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
American Journal of Respiratory and Critical Care Medicine|September 17, 2020
Experimental Human Pneumococcal Colonization in Older Adults Is Feasible and Safe, Not ImmunogenicHugh Adler, Esther L German, Elena Mitsi, et al.
The Journal of Clinical Investigation|July 31, 2019
Innate and adaptive nasal mucosal immune responses following experimental human pneumococcal colonizationSimon P Jochems, Karin de Ruiter, Carla Solórzano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHDAlice Garrett, Chey Loveday, Laura King, et al.
Journal of Medical Genetics|December 28, 2023
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory surveySophie Allen, Lucy Loong, Alice Garrett, et al.
Journal of Medical Genetics|December 26, 2022
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory recordsLucy Loong, Catherine Huntley, Fiona McRonald, et al.
American Journal of Human Genetics|October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.
Pageof 7