| Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature Genetics, 1-11, 2020 | 123 | 2020 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 111 | 2018 |
| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 53 | 2020 |
| Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia M Wagner, DPS Osborn, I Gehweiler, M Nagel, U Ulmer, S Bakhtiari, ... Nature communications 10 (1), 4790, 2019 | 43 | 2019 |
| Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ... The American Journal of Human Genetics 107 (2), 364-373, 2020 | 35 | 2020 |
| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids S Ferdinandusse, K McWalter, H Te Brinke, L IJlst, PM Mooijer, ... Genetics in medicine 23 (4), 740-750, 2021 | 30 | 2021 |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ... Brain 144 (5), 1422-1434, 2021 | 24 | 2021 |
| Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy GL Carvill, KL Helbig, CT Myers, M Scala, R Huether, S Lewis, TN Kruer, ... Human mutation 41 (7), 1263-1279, 2020 | 24 | 2020 |
| Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination V Chelban, M Alsagob, K Kloth, A Chirita‐Emandi, J Vandrovcova, ... European journal of neurology 27 (2), 334-342, 2020 | 22 | 2020 |
| Variants in mitochondrial ATP synthase cause variable neurologic phenotypes M Zech, R Kopajtich, K Steinbrücker, C Bris, N Gueguen, RG Feichtinger, ... Annals of neurology 91 (2), 225-237, 2022 | 20 | 2022 |
| Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus M Wagner, J Lévy, S Jung-Klawitter, S Bakhtiari, F Monteiro, R Maroofian, ... Genetics in Medicine 22 (6), 1061-1068, 2020 | 19 | 2020 |
| De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and … MJ Nabais Sá, H Venselaar, L Wiel, A Trimouille, E Lasseaux, S Naudion, ... Genetics in Medicine 22 (4), 797-802, 2020 | 18 | 2020 |
| 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 | 17 | 2021 |
| Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement M Zech, KR Kumar, S Reining, J Reunert, M Tchan, LG Riley, AP Drew, ... Movement disorders: official journal of the Movement Disorder Society, 2021 | 16 | 2021 |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants S Kayumi, LA Pérez-Jurado, M Palomares, S Rangu, SE Sheppard, ... Genetics in Medicine 24 (11), 2351-2366, 2022 | 15 | 2022 |
| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity A Kurolap, F Kreuder, C Gonzaga-Jauregui, MP Duvdevani, T Harel, ... The American Journal of Human Genetics 109 (3), 518-532, 2022 | 12 | 2022 |
| ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes H Alsharhan, M He, AC Edmondson, EJP Daniel, J Chen, T Donald, ... Journal of inherited metabolic disease 44 (4), 1001-1012, 2021 | 11 | 2021 |
| Local fingerprint image reconstruction based on gabor filtering S Bakhtiari, SS Agaian, M Jamshidi Mobile Multimedia/Image Processing, Security, and Applications 2012 8406, 11-21, 2012 | 11 | 2012 |
| Autosomal recessive cerebellar atrophy and spastic ataxia in patients with pathogenic biallelic variants in GEMIN5 DS Rajan, S Kour, TR Fortuna, MA Cousin, SS Barnett, Z Niu, ... Frontiers in Cell and Developmental Biology 10, 783762, 2022 | 10 | 2022 |
| Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy DG Calame, S Bakhtiari, R Logan, Z Coban-Akdemir, H Du, T Mitani, ... Genetics in Medicine 23 (12), 2455-2460, 2021 | 9 | 2021 |
