Milen Velinov

Milen Velinov

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Milen Velinov

Milen Velinov

Publications by authors named "Milen Velinov"

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Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.

Nat Struct Mol Biol 2020 Feb 10;27(2):192-201. Epub 2020 Feb 10.

Appel Institute for Alzheimer's Disease Research, and Brain & Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/s41594-020-0375-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021000PMC
February 2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

Am J Hum Genet 2019 Aug 18;105(2):425-433. Epub 2019 Jul 18.

Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI 53226, USA; Departments of Ophthalmology and Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698968PMC
August 2019

Genomic Copy Number Variations in the Autism Clinic-Work in Progress.

Authors:
Milen Velinov

Front Cell Neurosci 2019 19;13:57. Epub 2019 Feb 19.

George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.

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http://dx.doi.org/10.3389/fncel.2019.00057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389619PMC
February 2019

Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents.

Autism Res 2018 05 2;11(5):707-712. Epub 2018 Feb 2.

Department of Psychology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.

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http://doi.wiley.com/10.1002/aur.1934
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http://dx.doi.org/10.1002/aur.1934DOI Listing
May 2018

Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.

Am J Med Genet B Neuropsychiatr Genet 2017 Dec 30;174(8):772-778. Epub 2017 Aug 30.

The Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.b.32575DOI Listing
December 2017

SCN3A deficiency associated with increased seizure susceptibility.

Neurobiol Dis 2017 Jun 22;102:38-48. Epub 2017 Feb 22.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446790PMC
June 2017

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.

PLoS One 2015 23;10(4):e0125205. Epub 2015 Apr 23.

Department of Biochemistry and Molecular Biology, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125205PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407904PMC
April 2016

7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance.

Mol Cytogenet 2015 13;8:37. Epub 2015 Jun 13.

Bronx-Lebanon Hospital Center, New York, Bronx ; Albert Einstein College of Medicine, New York, Bronx ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Rd, Staten Island, 10314 New York.

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http://dx.doi.org/10.1186/s13039-015-0139-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465478PMC
June 2015

Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2.

Psychiatry Clin Neurosci 2014 Jun 12;68(6):487. Epub 2014 Feb 12.

Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, New York, USA.

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http://dx.doi.org/10.1111/pcn.12143DOI Listing
June 2014

A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.

Am J Med Genet A 2012 Dec 20;158A(12):3201-6. Epub 2012 Nov 20.

New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

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http://dx.doi.org/10.1002/ajmg.a.35644DOI Listing
December 2012

A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.

Eur J Med Genet 2012 Oct 2;55(10):573-6. Epub 2012 Jun 2.

Bronx-Lebanon Hospital Center, Bronx, NY, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.012DOI Listing
October 2012

Mild cognitive impairment identified in older individuals with Down syndrome by reduced telomere signal numbers and shorter telomeres measured in microns.

Am J Med Genet B Neuropsychiatr Genet 2012 Jul 16;159B(5):598-604. Epub 2012 May 16.

New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1002/ajmg.b.32066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415710PMC
July 2012

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

Clin Dysmorphol 2012 Jan;21(1):8-10

New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32834c59a8DOI Listing
January 2012

Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.

Eur J Med Genet 2010 Jul-Aug;53(4):213-6. Epub 2010 May 31.

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.05.005DOI Listing
October 2010

Shorter telomeres may indicate dementia status in older individuals with Down syndrome.

Neurobiol Aging 2010 May 16;31(5):765-71. Epub 2008 Jul 16.

New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2008.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842474PMC
May 2010

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.

Eur J Med Genet 2009 Nov-Dec;52(6):443-5. Epub 2009 Sep 20.

Richmond University Medical Center, Staten Island, NY, USA.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.003DOI Listing
February 2010

Mitochondrial T9098C sequence change in the MTATP6 gene and development of severe mitochondrial disease after in utero antiretroviral prophylaxis.

Pharmacotherapy 2009 Dec;29(12):1491

New York State Institute for Basic Research in Developmental Disabilities-Human Genetics, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1592/phco.29.12.1491DOI Listing
December 2009

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Clin Dysmorphol 2009 Jan;18(1):9-12

Department of Human Genetics, NYS Institute for Basic Research, in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1097/mcd.0b013e3283157cadDOI Listing
January 2009

Increased "absence" of telomeres may indicate Alzheimer's disease/dementia status in older individuals with Down syndrome.

Neurosci Lett 2008 Aug 18;440(3):340-3. Epub 2008 Jun 18.

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road Staten Island, NY 10314, United States.

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http://dx.doi.org/10.1016/j.neulet.2008.05.098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614684PMC
August 2008

Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene.

Am J Med Genet A 2008 Jun;146A(12):1543-6

Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1002/ajmg.a.32342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2766597PMC
June 2008

Psychotic manifestations in a patient with mental retardation and a 6.2 megabase deletion at the distal short arm of chromosome 12.

CNS Spectr 2008 Jun;13(6):515-9

The Comprehensive Genetic Services, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1017/s1092852900016758DOI Listing
June 2008

The fetal mycophenolate mofetil syndrome.

Clin Dysmorphol 2008 Jan;17(1):77-8

Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1097/MCD.0b013e3282efef5bDOI Listing
January 2008

Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia.

Neurobiol Aging 2006 Jul 19;27(7):941-5. Epub 2005 Jul 19.

New York State Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY 10314, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2005.05.021DOI Listing
July 2006

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation.

Eur J Med Genet 2005 Jan-Mar;48(1):57-65. Epub 2005 Feb 1.

Division of Medical Genetics, Department of Pediatrics, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY 11219, USA.

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http://dx.doi.org/10.1016/j.ejmg.2005.01.007DOI Listing
August 2005

PCR-based strategies for the diagnosis of Prader-Willi/Angelman syndromes.

Methods Mol Biol 2003 ;217:209-16

New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.

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http://dx.doi.org/10.1385/1-59259-330-5:209DOI Listing
April 2003

Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation.

Am J Med Genet 2002 Feb;107(4):330-3

New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

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http://dx.doi.org/10.1002/ajmg.10140DOI Listing
February 2002