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Rauan Kaiyrzhanov
Rauan Kaiyrzhanov
Institute of Neurology UCL
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
15292019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1842019
Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets
DA Kia, D Zhang, S Guelfi, C Manzoni, L Hubbard, RH Reynolds, J Botía, ...
JAMA neurology 78 (4), 464-472, 2021
1152021
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ...
Annals of neurology 88 (5), 867-877, 2020
782020
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease
S Bandres‐Ciga, S Saez‐Atienzar, L Bonet‐Ponce, K Billingsley, D Vitale, ...
Movement Disorders 34 (4), 460-468, 2019
782019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ...
Annals of Neurology 86 (2), 225-240, 2019
672019
Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score
H Iwaki, C Blauwendraat, MB Makarious, S Bandrés‐Ciga, HL Leonard, ...
Movement Disorders 35 (5), 774-780, 2020
612020
The genetic architecture of Parkinson disease in Spain: characterizing population‐specific risk, differential haplotype structures, and providing etiologic insight
S Bandres‐Ciga, S Ahmed, MS Sabir, C Blauwendraat, ...
Movement Disorders 34 (12), 1851-1863, 2019
542019
Investigation of autosomal genetic sex differences in Parkinson's disease
C Blauwendraat, H Iwaki, MB Makarious, S Bandres‐Ciga, HL Leonard, ...
Annals of neurology 90 (1), 35-42, 2021
412021
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study
M Rizig, S Bandres-Ciga, MB Makarious, OO Ojo, PW Crea, OV Abiodun, ...
The Lancet Neurology 22 (11), 1015-1025, 2023
222023
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
AT Pagnamenta, R Kaiyrzhanov, Y Zou, SI Da'as, R Maroofian, ...
Brain 144 (2), 584-600, 2021
222021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
M Skorvanek, I Rektorova, W Mandemakers, M Wagner, R Steinfeld, ...
Parkinsonism & Related Disorders 94, 54-61, 2022
192022
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
D Marafi, JM Fatih, R Kaiyrzhanov, MP Ferla, C Gijavanekar, A Al-Maraghi, ...
Brain 145 (3), 909-924, 2022
182022
LRP10 in α-synucleinopathies
DA Kia, MS Sabir, S Ahmed, J Trinh, S Bandres-Ciga, AJ Noyce, ...
The Lancet Neurology 17 (12), 1032, 2018
172018
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ...
Genetics in Medicine 25 (1), 90-102, 2023
162023
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ...
The American Journal of Human Genetics 108 (10), 2006-2016, 2021
162021
Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases
OV Poole, C Pizzamiglio, D Murphy, M Falabella, WL Macken, ...
Annals of Neurology 89 (6), 1240-1247, 2021
162021
Parkinson’s disease in Central asian and Transcaucasian countries: A review of epidemiology, genetics, clinical characteristics, and access to care
R Kaiyrzhanov, M Rizig, A Aitkulova, N Zharkinbekova, C Shashkin, ...
Parkinson’s Disease 2019, 2019
152019
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
SJ Lin, B Vona, PG Barbalho, R Kaiyrzhanov, R Maroofian, C Petree, ...
Genetics in Medicine 23 (10), 1933-1943, 2021
132021
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
R Kaiyrzhanov, S Wortmann, T Reid, M Dehghani, MY Vahidi Mehrjardi, ...
Brain 144 (3), e30-e30, 2021
132021
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