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1 . Academic Journal
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort
저자
by
Amy Gerrish
;
Chipo Mashayamombe-Wolfgarten
;
Edward Stone
;
Claudia Román-Montañana
;
Joseph Abbott
, et al.
소스
Cancers, Vol 16, Iss 8, p 1565 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome
저자
by
Harriet Walker
;
Alison Foster
;
Trevor Cole
;
Andrea Jester
.
소스
JPRAS Open, Vol 25, Iss , Pp 83-87 (2020)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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Scopus
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6 . Academic Journal
The evolving therapeutic landscape of genetic skeletal disorders
저자
by
Ataf Hussain Sabir
;
Trevor Cole
.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-20 (2019)
Open Access (BioMed Central)
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Web of Science
Scopus
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4 . Academic Journal
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
저자
by
Alba Sanchis-Juan
;
Jonathan Stephens
;
Courtney E. French
;
Nicholas Gleadall
;
Karyn Mégy
, et al.
소스
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma
저자
by
Amy Gerrish
;
Helen Jenkinson
;
Trevor Cole
.
소스
Cancers, Vol 13, Iss 7, p 1570 (2021)
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5 . Academic Journal
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies
저자
by
Amy Gerrish
;
Benjamin Bowns
;
Chipo Mashayamombe-Wolfgarten
;
Elizabeth Young
;
Samantha Court
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 11, p 3517 (2020)
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Web of Science
Scopus
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7 . Academic Journal
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
저자
by
Ana Osorio
;
Roger L Milne
;
Karoline Kuchenbaecker
;
Tereza Vaclová
;
Guillermo Pita
, et al.
소스
PLoS Genetics, Vol 10, Iss 4, p e1004256 (2014)
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7 .
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
저자
by
Lucy Loong
;
Agostina Tardivo
;
Alexej Knaus
;
Mona Hashim
;
Alistair T. Pagnamenta
, et al.
소스
Genetics in Medicine, 25(1), 37-48. Nature Publishing Group
Full Text (ScienceDirect O/A)
Web of Science
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7 .
Risk Factors for Primary Bone Cancer After Childhood Cancer: A PanCare Childhood and Adolescent Cancer Survivor Care and Follow-Up Studies Nested Case-Control Study
저자
by
Raoul C. Reulen
;
David L. Winter
;
Ibrahim Diallo
;
Cristina Veres
;
Damien Llanas
, et al.
소스
Journal of Clinical Oncology
.
Scopus
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7 .
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (
CDH
+) using
DECIPHER
data
저자
by
Amy Hardcastle
;
Aliska M. Berry
;
Ian M. Campbell
;
Xiaonan Zhao
;
Pengfei Liu
, et al.
소스
American Journal of Medical Genetics Part A
. 188:2958-2968
Web of Science
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