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Author Details

Lawrence C Brody
National Human Genome Research Institute, National Institutes of Health
1988
200
57
PMIDPaper TitleJournal TitlePublished Year
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
37663545Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome.HGG Adv2023
37339317Getting It Right: How Public Engagement Might (and Might Not) Help Us Determine What Is Equitable in Genomics and Precision Medicine.Am J Bioeth2023
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
37117635The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Commun Biol2023
37663545Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndrome.HGG Adv2023
37117635The Newfoundland and Labrador mosaic founder population descends from an Irish and British diaspora from 300 years ago.Commun Biol2023
37339317Getting It Right: How Public Engagement Might (and Might Not) Help Us Determine What Is Equitable in Genomics and Precision Medicine.Am J Bioeth2023
34656763Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.J Mol Diagn2022
35679801The role of common genetic variation in presumed monogenic epilepsies.EBioMedicine2022
36402890Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing.Commun Biol2022
35716026Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.Am J Med Genet A2022
36774100Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.J Nutr2022
35274497Exome sequencing identifies variants in infants with sacral agenesis.Birth Defects Res2022
34656763Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls.J Mol Diagn2022
35081118KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.PLoS One2022
35107211Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.Am J Med Genet A2022
35679801The role of common genetic variation in presumed monogenic epilepsies.EBioMedicine2022
35716026Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.Am J Med Genet A2022
36402890Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing.Commun Biol2022
36774100Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.J Nutr2022
35274497Exome sequencing identifies variants in infants with sacral agenesis.Birth Defects Res2022
35107211Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.Am J Med Genet A2022
35081118KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.PLoS One2022
32902617A scoping review of social and behavioral science research to translate genomic discoveries into population health impact.Transl Behav Med2021
33544972A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.Am J Med Genet A2021
33454723The genetic landscape of polycystic kidney disease in Ireland.Eur J Hum Genet2021
34355505Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.Am J Med Genet A2021
34132337Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish.J Nutr2021
32902617A scoping review of social and behavioral science research to translate genomic discoveries into population health impact.Transl Behav Med2021
34861173Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.Am J Hum Genet2021
33544972A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.Am J Med Genet A2021
34861173Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.Am J Hum Genet2021
34132337Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish.J Nutr2021
34355505Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.Am J Med Genet A2021
33454723The genetic landscape of polycystic kidney disease in Ireland.Eur J Hum Genet2021
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
33116284Strategic vision for improving human health at The Forefront of Genomics.Nature2020
33116284Strategic vision for improving human health at The Forefront of Genomics.Nature2020
30334581ComPaSS-GWAS: A method to reduce type I error in genome-wide association studies when replication data are not available.Genet Epidemiol2019
31641590Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.Mol Genet Metab Rep2019
30334581ComPaSS-GWAS: A method to reduce type I error in genome-wide association studies when replication data are not available.Genet Epidemiol2019
30474649Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.Genet Med2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
31641590Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy.Mol Genet Metab Rep2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
30474649Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.Genet Med2019
29151588Prioritizing diversity in human genomics research.Nat Rev Genet2018
30071015A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.PLoS Med2018
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Collaborators

Francis S Collins
University of Michigan ann arbor
Co-authored papers 18
James F Troendle
and Blood Institute, National Institutes of Health
Co-authored papers 16
Fergus J Couch
Mayo Clinic
Co-authored papers 12
David Valle
Johns Hopkins School of Medicine
Co-authored papers 11
Jeffery P Struewing
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 11
Tonia C Carter
Center for Precision Medicine Research, Marshfield Clinic Research Institute
Co-authored papers 11
Colleen M McBride
Rollins School of Public Health, Emory University
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Margaret A Tucker
National Cancer Institute
Co-authored papers 9
Michael R Erdos
Center for Precision Health Research, National Human Genome Research Institute
Co-authored papers 8
Sholom Wacholder
National Cancer Institute
Co-authored papers 8
Barbara L Weber
Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
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Richard H Finnell
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James C Mullikin
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Michael J Bamshad
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Andrew F Olshan
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Gianpiero L Cavalleri
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Eric B Larson
University of Washington
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Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Co-authored papers 4
Vence L Bonham
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
William D Foulkes
Segal Cancer Centre, Jewish General Hospital
Co-authored papers 4
Wendy N Nembhard
Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences
Co-authored papers 4
Muin J Khoury
Centers for Disease Control and Prevention Atlanta GA USA.
Co-authored papers 4
Deborah A Nickerson
University of Washington
Co-authored papers 4
Amanda B Spurdle
QIMR Berghofer Medical Research Institute
Co-authored papers 4
James P Landers
University of Virginia
Co-authored papers 4
Nathan Pankratz
University of Minnesota
Co-authored papers 3
Barbara B Biesecker
and Translational Research Center
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David Ginsburg
University of Michigan ann arbor
Co-authored papers 3
David E Goldgar
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Release 1.2