| Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome MB Consugar, WC Wong, PA Lundquist, S Rossetti, VJ Kubly, DL Walker, ... Kidney international 74 (11), 1468-1479, 2008 | 156 | 2008 |
| The gene for achondroplasia maps to the telomeric region of chromosome 4p M Velinov, SA Slaugenhaupt, I Stoilov, CI Scott Jr, JF Gusella, ... Nature genetics 6 (3), 314-317, 1994 | 145 | 1994 |
| Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene MR Bekheirnia, N Bekheirnia, MN Bainbridge, S Gu, ZH Coban Akdemir, ... Genetics in Medicine 19 (4), 412-420, 2017 | 101 | 2017 |
| Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families M Velinov, N Dolzhanskaya, M Gonzalez, E Powell, I Konidari, W Hulme, ... PloS one 7 (1), e29729, 2012 | 99 | 2012 |
| Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia EC Jenkins, MT Velinov, L Ye, H Gu, S Li, EC Jenkins Jr, SS Brooks, ... Neurobiology of aging 27 (7), 941-945, 2006 | 93 | 2006 |
| Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome M Godfrey, N Vandemark, M Wang, M Velinov, D Wargowski, P Tsipouras, ... American journal of human genetics 53 (2), 472, 1993 | 85 | 1993 |
| Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation MX Henderson, GS Wirak, Y Zhang, F Dai, SD Ginsberg, N Dolzhanskaya, ... Acta neuropathologica 131, 621-637, 2016 | 78 | 2016 |
| SCN3A deficiency associated with increased seizure susceptibility T Lamar, CG Vanoye, J Calhoun, JC Wong, SBB Dutton, BS Jorge, ... Neurobiology of disease 102, 38-48, 2017 | 67 | 2017 |
| De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy IM de Lange, KL Helbig, S Weckhuysen, RS Møller, M Velinov, ... Journal of medical genetics 53 (12), 850-858, 2016 | 63 | 2016 |
| FOXP1-related intellectual disability syndrome: a recognisable entity I Meerschaut, D Rochefort, N Revençu, J Pètre, C Corsello, GA Rouleau, ... Journal of medical genetics 54 (9), 613-623, 2017 | 60 | 2017 |
| Genomic copy number variations in the autism clinic—work in progress M Velinov Frontiers in cellular neuroscience 13, 57, 2019 | 53 | 2019 |
| Shorter telomeres may indicate dementia status in older individuals with Down syndrome EC Jenkins, L Ye, H Gu, SA Ni, M Velinov, D Pang, SJ Krinsky-McHale, ... Neurobiology of aging 31 (5), 765-771, 2010 | 46 | 2010 |
| Increased “absence” of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome EC Jenkins, L Ye, H Gu, SA Ni, CJ Duncan, M Velinov, D Pang, ... Neuroscience letters 440 (3), 340-343, 2008 | 43 | 2008 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 42 | 2021 |
| Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents EV Quadros, JM Sequeira, WT Brown, C Mevs, E Marchi, M Flory, ... Autism Research 11 (5), 707-712, 2018 | 39 | 2018 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 32 | 2020 |
| De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation M Velinov, A Novelli, H Gu, M Fenko, N Dolzhanskaya, L Bernardini, ... Clinical Dysmorphology 18 (1), 9-12, 2009 | 31 | 2009 |
| The fetal mycophenolate mofetil syndrome M Velinov, N Zellers Clinical Dysmorphology 17 (1), 77-78, 2008 | 30 | 2008 |
| Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis N Naseri, M Sharma, M Velinov Clinical genetics 99 (1), 111-118, 2021 | 29 | 2021 |
| Variable clinical expression of mosaic trisomy 16 in the newborn infant AS Devi, M Velinov, MV Kamath, L Eisenfeld, R Neu, L Ciarleglio, ... American journal of medical genetics 47 (2), 294-298, 1993 | 29 | 1993 |
Michael HendersonVan Andel Institute在 vai.org 的电子邮件经过验证
