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List of works by Denise M. Kay

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

scientific article

A genetic basis for the variable effect of smoking/nicotine on Parkinson's disease.

scientific article

Accumulation of polychlorinated biphenyls from floodplain soils by passerine birds

scientific article published in June 2006

Anorectal atresia and variants at predicted regulatory sites in candidate genes

scientific article published on 6 November 2012

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease

scientific article

Bioaccumulation of polychlorinated dibenzo-p-dioxins, dibenzofurans, and dioxin-like polychlorinated biphenyls in fishes from the Tittabawassee and Saginaw Rivers, Michigan, USA.

scientific article published on 6 March 2010

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

scientific article published on 5 November 2015

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

scientific article published on 12 May 2016

Combined effects of smoking, coffee, and NSAIDs on Parkinson's disease risk

scientific article published in January 2008

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

scientific article

Comparison of risk assessment methodologies for exposure of mink to PCBs on the Kalamazoo River, Michigan

scientific article published in December 2004

Copy number variants in Ebstein anomaly.

scientific article

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

scientific article published on 30 November 2016

Copy number variants in hypoplastic right heart syndrome

scientific article published on 05 October 2018

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.

scientific article published on 25 May 2017

Developmental and posthatch effects of in ovo exposure to 2,3,7,8-TCDD, 2,3,4,7,8-PECDF, and 2,3,7,8-TCDF in Japanese quail (Coturnix japonica), common pheasant (Phasianus colchicus), and white leghorn chicken (Gallus gallus domesticus) embryos

scientific article published on 7 May 2011

Differential accumulation of polychlorinated biphenyl congeners in the aquatic food web at the Kalamazoo River Superfund site, Michigan

scientific article published in August 2005

Differential accumulation of polychlorinated biphenyl congeners in the terrestrial food web of the Kalamazoo River Superfund site, Michigan

scientific article published in August 2005

Disease-related and genetic correlates of psychotic symptoms in Parkinson's disease

scientific article

Early infantile Krabbe disease: results of the World-Wide Krabbe Registry

scientific article published in September 2011

Effects of in ovo exposure of white leghorn chicken, common pheasant, and Japanese quail to 2,3,7,8-tetrachlorodibenzo-p-dioxin and two chlorinated dibenzofurans on CYP1A induction

scientific article

Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation

scientific article published in August 2005

Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies.

scientific article published on 10 September 2012

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

scientific article published on 21 July 2019

Exploring gene-environment interactions in Parkinson’s disease

article

Folate and vitamin B12-related genes and risk for omphalocele

scientific article

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

scientific article published on 27 October 2016

Genetic association between α-synuclein and idiopathic parkinson's disease

article

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee

scientific article published in August 2011

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

scientific article published on 01 January 2019

Genomic analyses in African populations identify novel risk loci for cleft palate

scientific article published on 01 March 2019

Hepatic P450 enzyme activity, tissue morphology and histology of mink (Mustela vison) exposed to polychlorinated dibenzofurans

scientific article published on 21 May 2009

Heterozygousparkinpoint mutations are as common in control subjects as in Parkinson's patients

article

Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

scientific article

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

scientific article published on 18 May 2020

Incidence of jaw lesions and activity and gene expression of hepatic P4501A enzymes in mink (Mustela vison) exposed to dietary 2,3,7,8-tetrachlorodibenzo-p-dioxin, 2,3,7,8-tetrachlorodibenzofuran, and 2,3,4,7,8-pentachlorodibenzofuran

scientific article published on 31 August 2012

LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

scientific article

Lack of evidence for an association between UCHL1 S18Y and Parkinson's disease

scientific article

Later onset phenotypes of Krabbe disease: results of the world-wide registry

scientific article published in May 2012

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease

scientific article

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

scientific article

Newborn screening for SCID in New York State: experience from the first two years

scientific article

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States

scientific article published in August 2014

Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics

scientific article

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

scientific article published on 12 October 2017

Postural instability/gait disturbance in Parkinson's disease has distinct subtypes: an exploratory analysis

scientific article

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

scientific article published on 02 February 2022

Productivity of tree swallows (Tachycineta bicolor) exposed to PCBs at the Kalamazoo River superfund site

scientific article published in March 2006

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

scientific article published in January 2017

Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects

scientific article

Risk assessment methodologies for exposure of great horned owls (Bubo virginianus) to PCBs on the Kalamazoo River, Michigan

scientific article published in January 2008

Risk assessment of great horned owls (Bubo virginianus) exposed to polychlorinated biphenyls and DDT along the Kalamazoo River, Michigan, USA.

scientific article published in July 2007

Screening for cystic fibrosis in New York State: considerations for algorithm improvements.

scientific article published on 21 August 2015

Sensitivity of Japanese quail (Coturnix japonica), Common pheasant (Phasianus colchicus), and White Leghorn chicken (Gallus gallus domesticus) embryos to in ovo exposure to TCDD, PeCDF, and TCDF.

scientific article published on 22 September 2010

Tree swallow (Tachycineta bicolor) exposure to polychlorinated biphenyls at the Kalamazoo River superfund site, Michigan, USA.

scientific article published in February 2006

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.

scientific article published on 22 June 2015

Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease

article

Visualizing disease associations: graphic analysis of frequency distributions as a function of age using moving average plots (MAP) with application to Alzheimer's and Parkinson's disease

scientific article

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