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| 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 | 196 | 2019 |
| 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 | 125 | 2021 |
| 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 | 85 | 2020 |
| 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 | 80 | 2019 |
| 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 | 69 | 2019 |
| 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 | 62 | 2020 |
| 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 | 55 | 2019 |
| 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 | 48 | 2021 |
| 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 | 27 | 2023 |
| 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 | 27 | 2021 |
| 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 | 20 | 2022 |
| 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 | 19 | 2022 |
| 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 | 19 | 2021 |
| 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 | 18 | 2023 |
| 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 | 18 | 2021 |
| LRP10 in α-synucleinopathies DA Kia, MS Sabir, S Ahmed, J Trinh, S Bandres-Ciga, AJ Noyce, ... The Lancet Neurology 17 (12), 1032, 2018 | 17 | 2018 |
| 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 (1), 2905739, 2019 | 15 | 2019 |
| 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 | 14 | 2021 |
| Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy S Efthymiou, M Dutra‐Clarke, R Maroofian, R Kaiyrzhanov, M Scala, ... Epilepsia 62 (2), e35-e41, 2021 | 14 | 2021 |
