Robert Luke Nussbaum

Robert Luke Nussbaum's AcademicInfluence.com Rankings

Biology

#7124

World Rank

#9990

Historical Rank

Genetics

#676

World Rank

#762

Historical Rank

Neuroscience

#892

World Rank

#928

Historical Rank

biology Degrees

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Biology

Robert Luke Nussbaum's Degrees

PhD Genetics Stanford University

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Robert Luke Nussbaum's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease (1997) (6975)
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. (1997) (3289)
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1 (2004) (3255)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2013) (2235)
alpha-Synuclein locus triplication causes Parkinson's disease. (2003) (2042)
Alzheimer's disease and Parkinson's disease. (2003) (923)
ClinGen--the Clinical Genome Resource. (2015) (856)
Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking α-Synuclein (2002) (833)
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23 (1996) (774)
Structure and Dynamics of Micelle-bound Human α-Synuclein* (2005) (643)
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein (1993) (619)
Report of the committee on the genetic constitution of the X chromosome. (1988) (570)
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. (2012) (544)
Direct Membrane Association Drives Mitochondrial Fission by the Parkinson Disease-associated Protein α-Synuclein*♦ (2011) (506)
Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110α Subunit of Phosphoinositide 3-Kinase* (1999) (469)
Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome (1994) (452)
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) (2011) (447)
Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype (2005) (444)
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase (1992) (440)
Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein α-Synuclein* (2002) (398)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. (2015) (390)
Genetic/familial high-risk assessment: breast and ovarian. (2010) (366)
DLB and PDD boundary issues (2007) (351)
Parkinson Phenotype in Aged PINK1-Deficient Mice Is Accompanied by Progressive Mitochondrial Dysfunction in Absence of Neurodegeneration (2009) (344)
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. (1995) (335)
Parkinsonism among Gaucher disease carriers (2004) (335)
Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival (2002) (317)
Early embryonic lethality in mice deficient in the p110β catalytic subunit of PI 3-kinase (2002) (310)
Dent Disease with mutations in OCRL1. (2005) (284)
ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation (1989) (276)
Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework (2018) (273)
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths (2021) (257)
Research Ethics Recommendations for Whole-Genome Research: Consensus Statement (2008) (254)
Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. (2001) (253)
FXR1, an autosomal homolog of the fragile X mental retardation gene. (1995) (244)
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer (2017) (244)
Mitochondrial Lipid Abnormality and Electron Transport Chain Impairment in Mice Lacking α-Synuclein (2005) (237)
Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. (2010) (237)
Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry (2003) (234)
Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin (2008) (216)
Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle? (2018) (214)
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers (2017) (211)
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (2004) (209)
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations (2018) (206)
Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6 (2007) (201)
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease (1999) (201)
Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines (2019) (200)
Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation (2003) (189)
Renal Cell Carcinoma in Tuberous Sclerosis Complex (2014) (184)
Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification. (2008) (183)
Thompson & Thompson Genetics in Medicine (2007) (182)
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. (2007) (181)
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 (2021) (178)
Identification of six new susceptibility loci for invasive epithelial ovarian cancer (2014) (176)
Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. (1998) (172)
Miller-Dieker syndrome: lissencephaly and monosomy 17p. (1983) (167)
Identification, localization and characterization of the human γ-synuclein gene (1998) (164)
Exploring concordance and discordance for return of incidental findings from clinical sequencing (2012) (163)
Proteomics Analysis Identifies Phosphorylation-dependent α-Synuclein Protein Interactions *S (2008) (153)
Levels of alpha‐synuclein mRNA in sporadic Parkinson disease patients (2006) (149)
The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. (2002) (145)
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. (1987) (143)
Type II phosphoinositide 5‐phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation (2004) (140)
α-Synuclein Is Phosphorylated by Members of the Src Family of Protein-tyrosine Kinases* (2001) (139)
Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer (2014) (135)
α-Synuclein in gut endocrine cells and its implications for Parkinson's disease. (2017) (135)
The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. (1995) (131)
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 (2018) (131)
Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice. (2010) (129)
Disulfide-Dependent Multimeric Assembly of Resistin Family Hormones (128)
Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. (2001) (128)
Fragile X syndrome: a unique mutation in man. (1986) (125)
Proposed guidelines for papers describing DNA polymorphism-disease associations (2002) (122)
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 (2016) (122)
Thompson and Thompson Genetics in Medicine (2001) (118)
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease (1998) (117)
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 (2005) (115)
Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments. (2005) (115)
Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin (2009) (110)
A framework for exhaustively mapping functional missense variants (2017) (110)
Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. (2020) (110)
The Gardner syndrome. Significance of ocular features. (1984) (109)
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. (1983) (109)
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes (2018) (109)
Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells (2000) (107)
Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. (1992) (107)
Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human α-synuclein in transgenic mouse brain (2009) (106)
NT5E mutations and arterial calcifications. (2011) (103)
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. (2011) (103)
Identification, localization and characterization of the human gamma-synuclein gene. (1998) (103)
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (1997) (103)
Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. (2005) (100)
Organization of the HPRT gene and related sequences in the human genome (1984) (99)
Identification and Characterization of Golgin-84, a Novel Golgi Integral Membrane Protein with a Cytoplasmic Coiled-coil Domain* (1999) (97)
Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. (1992) (96)
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer (2016) (95)
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. (1989) (93)
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research (2017) (92)
Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis. (1997) (91)
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. (2005) (91)
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1 (1997) (91)
Fatty acid incorporation is decreased in astrocytes cultured from α‐synuclein gene‐ablated mice (2005) (91)
Genetics of Parkinson's disease. (1997) (90)
The role of exome sequencing in newborn screening for inborn errors of metabolism (2020) (89)
Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. (1988) (87)
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. (1987) (85)
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) (84)
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. (1987) (83)
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. (2014) (81)
Functional analysis of intra-allelic variation at NACP-Rep1 in the α-synuclein gene (2003) (81)
Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background (2005) (78)
Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA ) (2011) (78)
Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism. (2006) (77)
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy (2018) (77)
The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. (2003) (76)
Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2) (2003) (76)
Research on the Premotor Symptoms of Parkinson’s Disease: Clinical and Etiological Implications (2013) (76)
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. (2016) (76)
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7) (1991) (75)
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (1993) (74)
Retinal Pathology and Function in a Cln3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) (2002) (73)
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. (1989) (73)
Sources of discordance among germ-line variant classifications in ClinVar (2017) (73)
Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy (2011) (72)
α-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system (2012) (72)
A mutation in the human neurofilament M gene in Parkinson's disease that suggests a role for the cytoskeleton in neuronal degeneration (2002) (72)
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies (2004) (72)
Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26→qter (1984) (71)
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer (2017) (70)
Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. (1998) (67)
Shared heritability and functional enrichment across six solid cancers (2018) (67)
Isolation of a candidate gene for choroideremia. (1992) (65)
Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. (1985) (65)
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. (1990) (64)
Prevalence of Parkinson's disease in populations of African ancestry: a review. (2004) (63)
A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease (2009) (61)
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. (2011) (61)
Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. (1984) (61)
Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. (1986) (60)
Regulation of Phagocytosis in Dictyostelium by the Inositol 5‐Phosphatase OCRL Homolog Dd5P4 (2007) (60)
Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. (1988) (59)
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. (1985) (58)
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (58)
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus (2016) (58)
Toward clinical genomics in everyday medicine: perspectives and recommendations (2016) (57)
Implications of fragile X expression in normal males for the nature of the mutation (1986) (57)
X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. (1989) (56)
A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. (1986) (56)
Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. (2005) (55)
Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. (2012) (55)
Genetics of Synucleinopathies. (2018) (55)
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer (2019) (53)
Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. (1988) (53)
Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark (2018) (52)
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. (1998) (51)
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy (2019) (51)
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. (1988) (51)
Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. (2003) (50)
The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. (2006) (48)
Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. (2005) (47)
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer (2020) (47)
Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. (1985) (47)
Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation (1980) (46)
Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice (1997) (45)
A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. (2018) (45)
Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b. (2001) (45)
Sertoli Cell Vacuolization and Abnormal Germ Cell Adhesion in Mice Deficient in an Inositol Polyphosphate 5-Phosphatase1 (2002) (43)
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing (2019) (42)
Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression. (1985) (42)
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. (1989) (41)
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. (1990) (41)
Report of the third international workshop on human chromosome 22 mapping. (1993) (41)
Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. (1990) (41)
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease (2005) (41)
A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. (2015) (40)
Holocranohistochemistry enables the visualization of α-synuclein expression in the murine olfactory system and discovery of its systemic anti-microbial effects (2017) (39)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (39)
Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia. (1987) (39)
Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome (2013) (38)
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome (2010) (38)
Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. (1990) (37)
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers (2015) (37)
New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. (1986) (37)
In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. (1991) (36)
Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. (1992) (36)
Genomic Organization and Expression of the Human -Synuclein Gene (SNCB) (1998) (36)
Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations. (2015) (36)
Molecular confirmation of carriers for Lowe syndrome. (1999) (35)
MutaDATABASE: a centralized and standardized DNA variation database (2011) (35)
OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease (2018) (35)
Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. (2003) (34)
Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories (2017) (34)
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. (1989) (34)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (32)
Unusual renal features of Lowe syndrome in a mildly affected boy. (2000) (31)
A murine model for juvenile NCL: gene targeting of mouse Cln3. (1999) (31)
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. (2018) (30)
Genome-wide association studies, Alzheimer disease, and understudied populations. (2013) (29)
Genetics and alcoholism among at‐risk relatives I: Perceptions of cause, risk, and control (2004) (29)
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers (2014) (29)
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation (2021) (29)
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation (2020) (29)
Comprehensive Screening of a North American Parkinson’s Disease Cohort for LRRK2 Mutation (2007) (29)
The Identification of Alpha-Synuclein as the First Parkinson Disease Gene (2017) (28)
Human genetics: Putting the Parkin into Parkinson's (1998) (28)
Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. (1990) (27)
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 3) (1990) (27)
Nondisjunction rates and abnormal embryonic development in a mouse cross between heterozygotes carrying a (7, 18) robertsonian translocation chromosome. (1995) (26)
Linkage analysis in X-linked ocular albinism. (1991) (25)
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers (2017) (25)
Absence of Mutation in the β- and γ-Synuclein Genes in Familial Autosomal Dominant Parkinson's Disease (1998) (25)
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (25)
Genetics of Common Disorders with Complex Inheritance (2007) (24)
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders (2020) (24)
Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: A multi-center prospective study. (2021) (24)
Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. (2017) (24)
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. (1995) (24)
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. (1983) (22)
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2017) (22)
Breast cancer risk variants at 6 q 25 display different phenotype associations and regulate ESR 1 , RMND 1 and CCDC 170 (2016) (22)
Translational inhibition of α-synuclein by Posiphen normalizes distal colon motility in transgenic Parkinson mice. (2019) (22)
Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980. (1984) (21)
First report of prenatal biochemical diagnosis of Lowe syndrome (1998) (21)
Report of the committee on the genetic constitution of the X chromosome. (1988) (21)
Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers (2004) (21)
Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. (1998) (21)
Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease (1999) (21)
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 (2016) (20)
Shifting landscapes of human MTHFR missense-variant effects (2021) (20)
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. (1987) (20)
Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. (1986) (19)
The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (2019) (19)
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. (1990) (19)
Principles of Clinical Cytogenetics (2007) (19)
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. (2016) (18)
Caffeine enhances fragile (X) expression in somatic cell hybrids. (1986) (18)
Morbidity of sickle cell trait at high altitude. (1984) (18)
Genomic organization and expression of the human beta-synuclein gene (SNCB). (1998) (18)
Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2 (2014) (17)
Inherited TP53 Variants and Risk of Prostate Cancer. (2021) (17)
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (2018) (17)
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)” (2019) (17)
X-inactivation analysis of embryonic lethality in Ocrlwt/−;Inpp5b−/− mice (2010) (16)
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance (2015) (16)
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37 (1989) (15)
Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. (2000) (15)
New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. (1989) (15)
Lowe Oculocerebrorenal Syndrome (1994) (15)
Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes (2007) (15)
Genetics and alcoholism among at‐risk relatives II: Interest and concerns about hypothetical genetic testing for alcoholism risk (2004) (14)
The Identification of Alpha-Synuclein as the First Parkinson Disease Gene. (2017) (14)
Patterns of Single-Gene Inheritance (2007) (14)
Report of the committee on the genetic constitution of the X chromosome. (1990) (14)
An interlaboratory study of complex variant detection (2017) (14)
High resolution MRI reveals global changes in brains of Cln3 mutant mice. (2001) (13)
Transgenic mice expressing S129 phosphorylation mutations in α-synuclein (2014) (13)
Dual developments in diabetes (1992) (13)
Chatbots & artificial intelligence to scale genetic information delivery (2020) (13)
Contig map of the Parkinson's disease region on 4q21-q23. (1998) (12)
Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. (1989) (12)
Management of Secondary Genomic Findings. (2020) (12)
Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. (1985) (12)
Mutations and Arterial Calcifications (2011) (12)
Unaltered α-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion (2005) (11)
Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study (2021) (11)
Personalized Genetic Medicine (2007) (11)
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study (2021) (10)
SVCT1 (Slc23a1) knockout mice: Slc23a1 as the vitamin C kidney reabsorptive transporter (2007) (10)
Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes. (2017) (10)
Regulation of -Synuclein Expression: Implications for Parkinsons Disease (2003) (10)
Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits (2021) (9)
Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. (1993) (9)
Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrl1 (2009) (9)
Report of the committee on the genetic constitution of the X chromosome (Part 7 of 7) (1991) (9)
Expanding the Atlas of Functional Missense Variation for Human Genes (2017) (8)
Principles of Molecular Disease: Lessons from the Hemoglobinopathies (2007) (8)
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing (2022) (7)
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing (2020) (7)
Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid (2004) (7)
Isolation and regional mapping of 110 chromosome 22 STSs. (1994) (7)
Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. (1995) (7)
The Treatment of Genetic Disease (2007) (6)
Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. (2005) (6)
Prolongation of chemically-induced methemoglobinemia in mice lacking α-synuclein: A novel pharmacologic and toxicologic phenotype (2015) (6)
Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark (2021) (6)
Primary aldosteronism associated with a germline variant in CACNA1H (2019) (6)
Metal-catalyzed Oxidation of α-Synuclein (2005) (6)
QTc Prolongation and Family History of Sudden Death in a Patient with Desmin Cardiomyopathy (2011) (6)
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. (1990) (6)
Abstracts of workshop presentations pp. 1040-1056 (1989) (6)
Genetics in mainstream medicine: Finally within grasp to influence healthcare globally (2018) (6)
The genetic architecture of Plakophilin 2 cardiomyopathy (2021) (6)
The Molecular, Biochemical, and Cellular Basis of Genetic Disease (2007) (6)
Prioritizing genes for systematic variant effect mapping (2020) (5)
Human micelle-bound alpha-synuclein (2005) (5)
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. (2021) (5)
Pitfalls of Prenatal Diagnosis of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasia a (1985) (5)
Mining yeast in silico unearths a golden nugget for mitochondrial biology. (2005) (5)
Abstracts of workshop presentations pp. 1023-1039 (1989) (5)
Abstracts of workshop presentations pp. 948-967 (1989) (5)
Genetic Variation in Individuals and Populations: Mutation and Polymorphism (2007) (5)
Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payers (2014) (5)
Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6. (2019) (4)
Abstract P4-03-06: Limitations of direct-to-consumer genetic screening for HBOC: False negatives, false positives and everything in between (2019) (4)
Linkage studies and deletion screening in choroideremia. (1990) (4)
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice (2022) (4)
Abstracts of workshop presentations pp. 1057-1074 (1989) (4)
RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase. (1986) (4)
Regulation of alpha-synuclein expression: implications for Parkinson's disease. (2003) (4)
Publisher Correction: Shared heritability and functional enrichment across six solid cancers (2019) (4)
Report of the committee on the genetic constitution of the X chromosome (Part 3 of 3) (1989) (4)
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. (1994) (4)
Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. (1989) (4)
Summary of Human Gene Map, New Haven, HGM – 1, 1973, ‘Data 1' (1989) (4)
The evolving role of germline genetic testing and management in prostate cancer: Report from the Princess Margaret Cancer Centre International Retreat. (2021) (4)
Report of the committee on the genetic constitution of the X chromosome (Part 6 of 7) (1991) (4)
Clinical impact of pathogenic germline variants in pancreatic cancer: Results from a multicenter prospective universal genetic testing study. (2021) (4)
Functional phenotype variations of two novel KV7.1 mutations identified in patients with Long QT syndrome (2020) (3)
The Human Genome: Gene Structure and Function (2007) (3)
The Human Genome and the Chromosomal Basis of Heredity (2007) (3)
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine (2018) (3)
Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer (2022) (3)
Genetics of disease Recent advances in the genetics of human disease offer something new for every scientific interest (2007) (3)
Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. (1984) (3)
Conflicts of interest in genetic counseling: addressing and delivering (2018) (3)
Underdiagnosis of germline genetic prostate cancer: Are genetic testing guidelines an aid or an impediment? (2021) (3)
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions (2021) (3)
Germline alterations among Hispanic men with prostate cancer (2021) (3)
Abstracts of workshop presentations pp. 1075-1091 (1989) (3)
Genetic Principles and Technologies in the Study of Immune Disorders (2013) (2)
Working Group on Pharmacogenetic Testing of CYP 2 C 9 , VKORC 1 Alleles for Warfarin Use : (2008) (2)
Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin (2009) (2)
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes. (2022) (2)
Clinical Case Studies Illustrating Genetic Principles (2007) (2)
Use of Genome Data in Newborns as a Starting Point for Life-Long Precision Medicine (2016) (2)
Abstracts of workshop presentations pp. 1106-1116 (1989) (2)
Cancer Genetics and Genomics (2007) (2)
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer (2022) (2)
Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: a multi-center prospective study (2021) (2)
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study (2022) (2)
Challenges in providing residual risks in carrier testing (2021) (2)
Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm (2004) (2)
α-Synuclein Protein Interactions (2008) (2)
Genetic Counseling and Risk Assessment (2007) (2)
Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1 (2000) (2)
Clinical impact of medical policy supporting universal germline testing for patients with colorectal cancer. (2021) (2)
Proffered Papers and Posters Presented at the Seventh International Symposium on Hereditary Breast and Ovarian Cancer—BrcA: From the Personal to the Population (2018) (2)
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study (2021) (2)
HIGH INCIDENCE OF FUNCTIONAL ION CHANNEL ABNORMALITIES IN A CONSECUTIVE LONG QT SYNDROME COHORT WITH GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE (2014) (2)
of the DNA Content of Structurally Chromosomes and X Chromosome Using High Resolution Bivariate Flow Karyotyping (1990) (2)
Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify (2018) (2)
Contents Vol. 55, 1990 (1990) (1)
What is special about the "human" in "human genetics"? (2005) (1)
Recurrent Renal Cysts in a Transplanted Kidney (2018) (1)
Identification of PINK1, the first mitochondrial gene causing Parkinson's disease (2004) (1)
Abstract P4-06-02: Germline analysis of breast cancer patients with abnormal somatic results: Ancillary assessment or critical co-diagnostic? (2018) (1)
Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar (2017) (1)
Cloning of CGG repeats to study instability of dynamic mutations (1994) (1)
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk. (2021) (1)
Genetics and Genomics of Dementia (2010) (1)
Landscape of germline mutations in hepatobiliary carcinoma: Unrealized risk, untapped clinical trial opportunities. (2019) (1)
Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. (1995) (1)
Effect of access to germline genetic testing on pancreatic cancer precision treatment across disease stage and ethnicity. (2020) (1)
A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants with an Orthogonal Method in Clinical Genetic Testing (2018) (1)
Unexpected germline mutations in a pan-cancer analysis including sarcoma, renal, and other cancers. (2017) (1)
Reply: Expression of α‐Synuclein mRNA in Parkinson's disease (2007) (1)
Functional Analysis of Variants of Unknown Significance in BRCA1 and BRCA2 Using Complementation of a Synthetic Lethal Interaction with PARP Inhibition (2014) (1)
SmoothMuscle-Mediated Connective Tissue Remodeling inPulmonary Hypertension (1987) (1)
Ethical Issues in Medical Genetics (2007) (1)
Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. (1981) (1)
A Targeted shRNA Knockdown Screen of Phosphoinositide Modulator Genes Reveals INPP5B As Required for Cell Cycle Progression of MLL-AF9 Acute Myeloid Leukemia Cells (2011) (1)
Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers (2015) (1)
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives (2022) (1)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women (2016) (1)
Landscape of pathogenic germline variants in patients with lung cancer. (2022) (1)
Reply to Professor Lefthériotis et al. (2011) (1)
Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers (2021) (1)
Southern analysis of the Lesch-Nyhan locus in man. (1984) (1)
Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation. (1990) (1)
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients (2022) (1)
Correspondence on “Is there a duty to reinterpret genetic data? The ethical dimensions” by Appelbaum et al. (2020) (1)
PD13-10 UNIVERSAL GERMLINE TESTING OF PROSTATE CANCER PATIENTS: ARE GENETIC TESTING GUIDELINES AN IMPEDIMENT TO PRECISION THERAPY? (2021) (1)
An algorithm to detect abnormal mRNA splicing and assess its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes (2022) (1)
Developmental Genetics and Birth Defects (2007) (1)
Multigene Panel Testing of Patients With Uterine Carcinoma Reveals Actionable Variants in Non-Canonical Genes [25O] (2019) (1)
Characterization of 3 Novel Nav1.5 Channel Mutations Associated with the Brugada Syndrome (2012) (1)
Isolation of cDNA sequences around the chromosomal breakpoint in a female with lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes (1992) (1)
RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. (1989) (1)
Characterization of X-OCRL, a Xenopus laevis homologue of OCRL-1, the Lowe oculocerebrorenal syndrome candidate gene (1994) (0)
Integrated germline and somatic cancer testing provides opportunity to identify cancer risk and resolve variant origins. (2022) (0)
CARDIOLOGISTS BEWARE: CLINICAL LIMITATIONS OF GENOTYPING- VERSUS SEQUENCING-BASED STRATEGIES FOR CARDIOMYOPATHY EVALUATION (2020) (0)
GENETIC SCREENING IN REPRODUCTIVE AGE WOMEN IDENTIFIES A HIGH POSITIVE RATE OF ACTIONABLE RESULTS (2020) (0)
Human Genomics in Immunology (2019) (0)
Abstract P4-06-08: An interlaboratory study of complex mutation detection in genes associated with hereditary breast and ovarian cancer highlights both successes and current challenges (2018) (0)
Abstract P3-03-01: Clinical utility of finding pathogenic mutations beyond BRCA1/2 in breast cancer patients (2018) (0)
Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease Volume 6, Number 5 (1999), pages 321–334 (): (2000) (0)
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers (2014) (0)
Index by Abstract Number (1989) (0)
List of contributors. (2019) (0)
Preparing for the unexpected: Panel-based testing of patients with uterine carcinoma reveals actionable variants in non-canonical genes (2019) (0)
Variant classifications in BRCA1 and BRCA2: A systematic analysis of interlaboratory concordance (2016) (0)
Abstract 10555: Genetic Testing Underutilization in Patients with Cardiomyopathy: A Real-World Data Analysis (2021) (0)
Abstract PS8-14: Pathogenic variants in hereditary cancer syndrome genes are prevalent among breast cancer patients not meeting various ex-U.S. genetic testing guidelines (2021) (0)
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework (2018) (0)
PARK6 Linked Parkinson's Disease Is Caused by Mutations in a Mitochondrial Protein Kinase (2004) (0)
Quantifying Importance of Repolarization Currents Underlying Physiological Variability in Rabbit Cellular Electrophysiology (2012) (0)
Genomics of human neurological disorders (2020) (0)
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes (2018) (0)
Reviewer Acknowledgment (2009) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Lowe Syndrome]. (2012) (0)
Genome-Wide Association Studies, AlzheimerDisease,andUnderstudiedPopulations (2017) (0)
Correction: Germline alterations among Hispanic men with prostate cancer (2022) (0)
Subject Index Vol. 63, 1993 (1993) (0)
Thampson & Thampson Genetics in Medicine (2012) (0)
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus (2016) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 5 of 7) (1991) (0)
Ascorbate transporter SLC23A1 is essential for vitamin C renal reabsorption and mediates tight control in vivo (2007) (0)
Prevalence of pathogenic germline variants in DNA repair by race, age, and ethnicity in men with prostate cancer. (2019) (0)
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. (2023) (0)
Clinical utility of germline genetic testing after tumor genomic testing in colorectal cancer patients. (2020) (0)
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine (2018) (0)
Determining the clinical value of germline genetic testing coupled with tumor mutation profiling. (2017) (0)
Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder (1998) (0)
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy (2021) (0)
Correspondence on “Is there a duty to reinterpret genetic data? The ethical dimensions” by Appelbaum et al. (2020) (0)
8 Flame , Fire , and Smoke Detectors (2003) (0)
Male breast cancer in BRCA1 and BRCA2 mutation carriers (2018) (0)
Table of Contents (1995) (0)
Germline Variants in Highly Selected Patients With Prostate Cancer-In Reply. (2019) (0)
Diagnostic yield of germline genetic testing following tumor testing in prostate cancer patients. (2020) (0)
Association of breast cancer risk in BRCA 1 and BRCA 2 mutation carriers with genetic variants showing differential allelic expression (2016) (0)
Index by Keyword (1989) (0)
Tools of Human Molecular Genetics (2007) (0)
Mosaicism in Lowe syndrome (1999) (0)
Reply to Clarity and claims in variation/mutation databasing (2011) (0)
Correction: Germline alterations among Hispanic men with prostate cancer (2022) (0)
Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers (2018) (0)
System S04: Alpha‐Synuclein's Funtion in Brain Physiology (2006) (0)
Identification and characterization of the OCRL (Lowe`s Syndrome) protein (1994) (0)
P5859Genotype-phenotype correlation of novel KV7.1 mutations identified in patients with Long QT syndrome (2017) (0)
Triplication of Alpha-Synuclein is Causal of Neuropathologically Confirmed Parkinson ’ s Disease , Diffuse Lewy Body Disease , and Multiple System Atrophy in a Single Kindred (2003) (0)
Premature termination mutations in OCRL-1, a candidate gene for Lowe syndrome in Lowe syndrome patients (1993) (0)
Letter to the Editor. (2019) (0)
A descriptive analysis of a cohort of 300 Birt-Hogg-Dubé syndrome patients with FLCN pathogenic/likely pathogenic variants (2021) (0)
Asymptomatic Individuals with Family History of Hereditary Transthyretin-Mediated Amyloidosis can be Detected almost Two Decades Earlier Than Symptomatic Probands (2020) (0)
A tribute to Richard S. Spielman (2009) (0)
Erratum: The development of a highly informative mouse simple sequence length polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis (Genome Research (2003) vol. 13 (485-491)) (2003) (0)
Thompson And Thompso genetics in medicine (2013) (0)
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer (2019) (0)
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers (2015) (0)
AN ATLAS OF VARIANT IMPACT MAPS FOR HUMAN DISEASE GENES (2018) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 2 of 7) (1991) (0)
Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study (2022) (0)
Guidelines for interpreting abbreviations and specialized phrases in committee text and tables (1989) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 2 of 3) (1989) (0)
Abstract P6-08-28: Comprehensive germline multigene panel testing changes clinical care for patients with breast cancer (2020) (0)
Abstract 12675: Comprehensive Analysis of Cardiomyopathy and Arrhythmia Genes Yields Unanticipated Molecular Diagnoses (2020) (0)
Expansion of germline genetic testing criteria for prostate cancer yields findings across all stages of disease. (2020) (0)
Precision Medicine Opportunities for Familial Arrhythmias and Cardiomyopathies Identified When Cost of Genetic Testing is Removed as a Barrier (2020) (0)
CHAPTER 99 – The Genetic Approach to Dementia (2009) (0)
Human Genomics and Human Development (2016) (0)
Positions available (1995) (0)
BRCA NEGATIVE BREAST TUMORS AS A POTENTIAL SOURCE FOR IDENTIFYING MISMATCH REPAIR DEFICIENCY AND LYNCH SYNDROME : A PILOT STUDY (2013) (0)
PD21-11 REAL WORLD IMPACT OF GERMLINE GENETIC TESTING ON CLINICAL DECISION MAKING FOR PROSTATE CANCER PATIENTS (2023) (0)
Case study: Exploring effects of variable pay on motivation and teamwork within a chemical manufacturing firm (2010) (0)
Abstract P2-09-08: Breast cancer tumor sequencing coupled with germline genetic testing aids the identification of at-risk individuals for hereditary breast cancer disorders (2020) (0)
A note on the use of HGML LIT literature file numbers (1989) (0)
An encyclopedia of human genetics: Human Genetics (3rd edn) by Friedrich Vogel and Arno G. Motulsky Springer-Verlag, 1996. £64.00/$98.50 hbk (852 pages) ISBN 3 540 60290 9 (1997) (0)
Tay-Sachs disease carrier screening: Comparative analysis of NGS-based sequencing and enzyme testing results (2020) (0)
Abstract PD1-03: Clinically actionable pathogenic mutations that may be missed by conventional NGS-based testing: An analysis of 80,000 patients (2018) (0)
Combustible gas or Vapor sensors (2016) (0)
SLC23A1-/- Mice: a model to study vitamin c concentration/ function relationship (2008) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 3 of 7) (1991) (0)
Germline Genetic Testing in Unselected Squamous and Non-Squamous Head and Neck Cancers. (2023) (0)
Pathogenic Germline Variants in a Prospective Multi-Center Cohort of Patients with Multiple Myeloma (2022) (0)
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) (0)
The role of exome sequencing in newborn screening for inborn errors of metabolism (2020) (0)
ClinGen and Genetic Testing. (2015) (0)
Scientific Advances, Particularly Reviewing the Scientific Process and Accomplishments (2001) (0)
Book Review The Human Genome Project: Deciphering the Blueprint of Heredity Edited by Necia Grant Cooper. 360 pp., illustrated. Mill Valley, Calif., University Science Books, 1994. $38. 0-935702-29-6 (1994) (0)
Progress towards development of mouse models for JNCL (1998) (0)
Vitamin C Transporter Knock-out Leads to Severe Impairment of Adrenal Function (2004) (0)
Diagnostic yield and clinical utility of germline genetic testing following somatic testing in breast cancer patients. (2020) (0)
Unrelated Individuals of Self-Reported White/Caucasian Ancestry with the P.Val142Ile (V122I) Variant of Hereditary Transthyretin-Mediated Amyloidosis are Phenotypically Similar to those with Self-Reported Black/African-American Ancestry (2020) (0)
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers (2017) (0)
List of Contributors (2019) (0)
Flame, Fire, and Smoke Detectors (2016) (0)
Comprehensive germline panel testing across cancer types: Diagnostic yield and clinical utility in 100,000 patient dataset. (2019) (0)
Universal genetic testing versus guideline-directed testing for hereditary cancer syndromes among traditionally underrepresented patients in a community oncology program. (2022) (0)
Approaches to modeling hereditary Parkinson's disease in mice (2000) (0)
Contents, Vol. 63, 1993 (1993) (0)
Isolation of eDNA Sequences aroun t e Chro oso al reakpoint in a Fe ale with Lowe Syn ro e by Direct Screening of eDNA Libraries with Yeast Arti cial C ro oso es (1992) (0)
Report of the committee on the genetic constitution of the X chromosome (Part 4 of 7) (1991) (0)
Democratizing germline genetic testing and its impact on prostate cancer clinical decision-making. (2022) (0)
Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing". (2012) (0)
Abstract PD10-05: Universal genetic testing in breast cancer patients: A multi-center prospective study (2021) (0)
Comprehensive germline multigene panel testing changes clinical care for patients with breast cancer: Untapped clinical utility and PARP inhibitor trial eligibility. (2019) (0)
2015 ASHG Awards and Addresses. (2016) (0)
TheFragile X MentalRetardation Syndromeprotein interacts withnovelhomologs FXR1andFXR2 (1995) (0)
Abstract PS8-30: Longitudinal clinical outcomes of a multi-center universal genetic testing registry (2021) (0)
Abstracts of workshop presentations pp. 1006-1022 (1989) (0)
Conflicts of interest in genetic counseling: addressing and delivering (2018) (0)
Germline multigene panel testing in colorectal cancer: Precision therapy and clinical management implications. (2019) (0)
Shared heritability and functional enrichment across six solid cancers (2019) (0)
Human Gene Mapping and Disease Gene Identification (2007) (0)
A comparison of single nucleotide polymorphism and microsatellite genome scans for May-Hegglin anomaly (2001) (0)
Development of a CLN3 knock-out mouse model for Batten disease (1998) (0)
Pharmacogenetic testing ofCYP2C9andVKORC1 alleles for warfarin (2008) (0)

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