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Milen Velinov, MD, PhD
Milen Velinov, MD, PhD
Associate Professor, Director of Division of Genetics, Rutgers Robert Wood Johnson Medical School
Verified email at rwjms.rutgers.edu
Title
Cited by
Cited by
Year
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
1552008
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
1441994
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
992012
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
982017
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
932006
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
841993
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
782016
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
642017
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
632016
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
562017
Genomic copy number variations in the autism clinic—work in progress
M Velinov
Frontiers in cellular neuroscience 13, 57, 2019
482019
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
462010
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
432008
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
402021
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
392018
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
312009
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
302020
The fetal mycophenolate mofetil syndrome
M Velinov, N Zellers
Clinical Dysmorphology 17 (1), 77-78, 2008
302008
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
291993
A novel p. Leu (381) Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in …
N Dolzhanskaya, MA Gonzalez, F Sperziani, S Stefl, J Messing, GY Wen, ...
Journal of Alzheimer's disease 39 (1), 23-27, 2014
282014
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