Lista de obras - Robert L. Nussbaum - Dominio Público Uruguay

A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes

artículo científico publicado en 2023

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

artículo científico publicado en 2013

Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism

scientific journal article

Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding

scientific journal article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2015

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

artículo científico publicado en 2004

Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival

scientific journal article

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

artículo científico publicado en 2015

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

artículo científico publicado en 2012

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

artículo científico publicado en 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

artículo científico publicado en 2017

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

ClinGen--the Clinical Genome Resource

artículo científico publicado en 2015

Dent Disease with mutations in OCRL1

artículo científico publicado en 2005

Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein ⬇️

artículo científico publicado el 13 de abril de 2011

Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase

scientific journal article

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

artículo científico publicado en 2010

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

artículo científico publicado en 2004

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance

artículo científico publicado en 2015

Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects

artículo científico publicado en 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

artículo científico publicado en 2016

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

artículo científico publicado en 2016

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

artículo científico publicado en 2016

Mining yeast in silico unearths a golden nugget for mitochondrial biology

artículo científico publicado en 2005

Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein

artículo científico publicado en 2005

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy ⬇️

artículo científico publicado el 23 de diciembre de 2010

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

artículo científico publicado en 2018

NT5E mutations and arterial calcifications

artículo científico publicado en 2011

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration

artículo científico publicado en 2009

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

artículo científico publicado en 2011

Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions

artículo científico publicado en 2008

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene

artículo científico publicado en 2005

Renal cell carcinoma in tuberous sclerosis complex

artículo científico publicado en 2014

Research ethics recommendations for whole-genome research: consensus statement

artículo científico publicado en 2008

Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"

scientific article published on 26 June 2019

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome ⬇️

artículo científico publicado el 26 de septiembre de 2010

Structure and dynamics of micelle-bound human alpha-synuclein

artículo científico publicado en 2004

Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein

scientific journal article

The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis

artículo científico publicado en 2003

Transgenic mice expressing S129 phosphorylation mutations in α-synuclein

artículo científico publicado en 2014

Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum ⬇️

artículo científico publicado el 3 de febrero de 2011

Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice

artículo científico publicado en 2010

What is special about the "human" in "human genetics"?

artículo científico publicado en 2005

X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice

scientific journal article

Lista de obras de Robert L. Nussbaum

A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism

Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

ClinGen--the Clinical Genome Resource

Dent Disease with mutations in OCRL1

Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein ⬇️

Early embryonic lethality in mice deficient in the p110beta catalytic subunit of PI 3-kinase

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance

Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Mining yeast in silico unearths a golden nugget for mitochondrial biology

Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein

Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy ⬇️

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

NT5E mutations and arterial calcifications

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene

Renal cell carcinoma in tuberous sclerosis complex

Research ethics recommendations for whole-genome research: consensus statement

Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)"

Shared heritability and functional enrichment across six solid cancers

Shared heritability and functional enrichment across six solid cancers

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome ⬇️

Structure and dynamics of micelle-bound human alpha-synuclein

Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein

The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis

Transgenic mice expressing S129 phosphorylation mutations in α-synuclein

Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum ⬇️

Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice

What is special about the "human" in "human genetics"?

X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice