受强制性开放获取政策约束的文章 - Matthew Frank Hunter了解详情
无法在其他位置公开访问的文章：6 篇
EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome
S Griffiths, C Loveday, A Zachariou, LA Behan, K Chandler, T Cole, ...
American Journal of Medical Genetics Part A 179 (4), 588-594, 2019
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome
AP Fennell, AE Baxter, SF Berkovic, CJ Ellaway, C Forwood, ...
American Journal of Medical Genetics Part A 188 (12), 3432-3447, 2022
强制性开放获取政策： US National Institutes of Health
Outfoxed by RBFOX1‐A caution about ascertainment bias
B Kamien, AC Lionel, N Bain, SW Scherer, M Hunter
American Journal of Medical Genetics Part A 164 (6), 1411-1418, 2014
强制性开放获取政策： Canadian Institutes of Health Research, Genome Canada, Autism Speaks Inc, USA
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
KR Dias, R Shrestha, D Schofield, CA Evans, E O’Heir, Y Zhu, F Zhang, ...
Genetics in Medicine 26 (5), 101076, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
M Arpone, L Bretherton, DJ Amor, SJC Hearps, C Rogers, MJ Field, ...
Research in Developmental Disabilities 131, 104338, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
M Ball, SE Bouffler, CB Barnett, ML Freckmann, MF Hunter, B Kamien, ...
Genetics in Medicine 27 (1), 101293, 2025
强制性开放获取政策： National Health and Medical Research Council, Australia
可在其他位置公开访问的文章：27 篇
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...
Nature genetics 41 (7), 829-832, 2009
强制性开放获取政策： US National Institutes of Health
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska, T Ohnesorg, ...
Genome biology 17, 1-21, 2016
强制性开放获取政策： National Health and Medical Research Council, Australia
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ...
Jama 323 (24), 2503-2511, 2020
强制性开放获取政策： National Health and Medical Research Council, Australia
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ...
Genetics in Medicine 20 (12), 1554-1563, 2018
强制性开放获取政策： US National Institutes of Health
Phenotypic insights into ADCY5‐associated disease
FCF Chang, A Westenberger, RC Dale, M Smith, HS Pall, ...
Movement Disorders 31 (7), 1033-1040, 2016
强制性开放获取政策： Wellcome Trust
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
K Tatton-Brown, A Zachariou, C Loveday, A Renwick, S Mahamdallie, ...
Wellcome open research 3, 2018
强制性开放获取政策： Genome Canada, National Institute for Health Research, UK, Wellcome Trust
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
K Jayasinghe, Z Stark, PG Kerr, C Gaff, M Martyn, J Whitlam, B Creighton, ...
Genetics in medicine 23 (1), 183-191, 2021
强制性开放获取政策： National Health and Medical Research Council, Australia
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ...
Molecular genetics & genomic medicine 8 (11), e1508, 2020
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ...
The American Journal of Human Genetics 97 (2), 302-310, 2015
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Integrated multi-omics for rapid rare disease diagnosis on a national scale
S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ...
Nature medicine 29 (7), 1681-1691, 2023
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...
Genetics in Medicine 24 (1), 130-145, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
AR Jeffries, R Maroofian, CG Salter, BA Chioza, HE Cross, MA Patton, ...
Genome research 29 (7), 1057-1066, 2019
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
EK Baker, M Arpone, SA Vera, L Bretherton, A Ure, CM Kraan, M Bui, ...
Journal of neurodevelopmental disorders 11, 1-15, 2019
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
I Goranitis, Y Wu, S Lunke, SM White, TY Tan, A Yeung, MF Hunter, ...
Genetics in Medicine 24 (5), 1037-1044, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
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