关注
Himanshu Goel
Himanshu Goel
University of Newcastle
在 health.nsw.gov.au 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ...
Nature genetics 48 (10), 1185-1192, 2016
1392016
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, ...
Neurology 94 (20), e2148-e2167, 2020
1002020
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish
JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ...
The American Journal of Human Genetics 101 (1), 23-36, 2017
952017
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ...
The American Journal of Human Genetics 103 (6), 1038-1044, 2018
872018
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36
HP Zaveri, TF Beck, A Hernández-García, KE Shelly, T Montgomery, ...
PloS one 9 (1), e85600, 2014
692014
Mandibulofacial dysostosis with microcephaly: mutation and database update
L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ...
Human mutation 37 (2), 148-154, 2016
652016
ALG1‐CDG: clinical and molecular characterization of 39 unreported patients
BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ...
Human mutation 37 (7), 653-660, 2016
622016
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
592022
Genetic variants of interleukin‐1RN and interleukin‐1β genes and risk of cervical cancer
H Singh, R Sachan, H Goel, B Mittal
BJOG: An International Journal of Obstetrics & Gynaecology 115 (5), 633-638, 2008
592008
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
VT Huynh, MP Audrézet, JA Sayer, AC Ong, S Lefevre, V Le Brun, ...
Kidney international 98 (2), 476-487, 2020
542020
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
A Rao, S O'Donnell, N Bain, C Meldrum, D Shorter, H Goel
European journal of medical genetics 57 (2-3), 65-70, 2014
492014
KBG syndrome: an Australian experience
N Murray, B Burgess, R Hay, A Colley, S Rajagopalan, J McGaughran, ...
American journal of medical genetics Part A 173 (7), 1866-1877, 2017
432017
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ...
The American Journal of Human Genetics 107 (1), 164-172, 2020
422020
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction
G Ravenscroft, S Pannell, G O'Grady, R Ong, HC Ee, F Faiz, L Marns, ...
Neurogastroenterology & Motility 30 (9), e13371, 2018
362018
Maternal attitudes to newborn screening for fragile X syndrome
L Christie, T Wotton, B Bennetts, V Wiley, B Wilcken, C Rogers, J Boyle, ...
American Journal of Medical Genetics Part A 161 (2), 301-311, 2013
362013
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann–Steiner Syndrome
S Dunkerton, M Field, V Cho, E Bertram, B Whittle, A Groves, H Goel
American Journal of Medical Genetics Part A 167 (9), 2182-2187, 2015
322015
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
A Kaspi, MS Hildebrand, VE Jackson, R Braden, O Van Reyk, T Howell, ...
Molecular psychiatry 28 (4), 1647-1663, 2023
292023
Severe speech impairment is a distinguishing feature of FOXP1‐related disorder
RO Braden, DJ Amor, SE Fisher, C Mei, CT Myers, H Mefford, D Gill, ...
Developmental Medicine & Child Neurology 63 (12), 1417-1426, 2021
282021
NMNAT1 variants cause cone and cone-rod dystrophy
BM Nash, R Symes, H Goel, ME Dinger, B Bennetts, JR Grigg, ...
European Journal of Human Genetics 26 (3), 428-433, 2018
282018
Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum
YJ Crow, H Marshall, GI Rice, L Seabra, EM Jenkinson, K Baranano, ...
American Journal of Medical Genetics Part A 185 (1), 15-25, 2021
242021
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