Skip to Main Content

Author Details

Lorenzo D Botto
University of Utah
1992
182
50
PMIDPaper TitleJournal TitlePublished Year
35277952Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.Birth Defects Res2023
37057295<i>SON</i>-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of <i>PRRT2</i>.Neurol Genet2023
37379291The burden, prevention and care of infants and children with congenital anomalies in sub-Saharan Africa: A scoping review.PLOS Glob Public Health2023
37306055Using a health observance event to raise awareness: An assessment of World Birth Defects Day.Birth Defects Res2023
36698515A novel <i>RAD51</i> variant resulting in Fanconi anemia identified in an infant with multiple congenital anomalies.Clin Case Rep2023
34508749Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011.J Pediatr2022
35617975Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid.Lancet Glob Health2022
35862148How Well Do <i>ICD-9-CM</i> Codes Predict True Congenital Heart Defects? A Centers for Disease Control and Prevention-Based Multisite Validation Project.J Am Heart Assoc2022
36620387Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency.Mol Genet Metab Rep2022
36102623Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.Elife2022
36102252Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013.J Am Heart Assoc2022
35932236Associations between maternal reports of periconceptional fever from miscellaneous causes and structural birth defects.Birth Defects Res2022
35923780Editorial: Congenital anomalies: State of the art and the new paradigms for a precision public health approach.Front Pediatr2022
36191921Prenatally diagnosed congenital heart disease: the cost of maternal care.J Matern Fetal Neonatal Med2022
35947102Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.Ann Neurol2022
36113524Mandatory food fortification with folic acid - Authors' reply.Lancet Glob Health2022
33398909Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.Am J Med Genet A2021
33684136Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.PLoS Genet2021
33876578Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997-2011.Birth Defects Res2021
33734618Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.Birth Defects Res2021
34645894Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.Sci Rep2021
33982868Skeletal dysplasias in art and antiquities: A cultural journey through genes, environment, and chance.Am J Med Genet C Semin Med Genet2021
33951414Individuals aged 1-64 years with documented congenital heart defects at healthcare encounters, five U.S. surveillance sites, 2011-2013.Am Heart J2021
33949803Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings.Birth Defects Res2021
31454511Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011.Am J Obstet Gynecol2020
32083404From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?Am J Med Genet C Semin Med Genet2020
31836396Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.Mol Genet Metab2020
33101055Comparative Serum Analyses Identify Cytokines and Hormones Commonly Dysregulated as Well as Implicated in Promoting Osteolysis in MMP-2-Deficient Mice and Children.Front Physiol2020
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
30746866A proposal for the systematic assessment of data quality indicators in birth defects surveillance.Birth Defects Res2019
31678056Associations between PM2.5 and risk of preterm birth among liveborn infants.Ann Epidemiol2019
30173310Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.J Autism Dev Disord2019
31270117Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.BMJ Open2019
31492776Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years.BMJ Open2019
31546130Maternal exposure to outdoor air pollution and congenital limb deficiencies in the National Birth Defects Prevention Study.Environ Res2019
31192527Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.Mol Genet Genomic Med2019
30779713Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.JCI Insight2019
30867536Identification of fibrinogen as a natural inhibitor of MMP-2.Sci Rep2019
30773818Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.Am J Med Genet A2019
30982389Public Health Approach to Improve Outcomes for Congenital Heart Disease Across the Life Span.J Am Heart Assoc2019
30920163Risk factors associated with the development of double-inlet ventricle congenital heart disease.Birth Defects Res2019
30965352Join World Birth Defects Day.Pediatr Res2019
30849329De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.Am J Hum Genet2019
30756506Application of quality indicators to data from the National Network of Congenital Anomalies of Argentina.Birth Defects Res2019
30928950Risk of gastroschisis with maternal genitourinary infections: the US National birth defects prevention study 1997-2011.BMJ Open2019
30816021An evolutionary and developmental biology approach to gastroschisis.Birth Defects Res2019
29532515Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention.Ann N Y Acad Sci2018
32337095Development and Utility of a Birth Defects Surveillance Toolkit.J Glob Health Perspect2018
29862374Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance.Int J Neonatal Screen2018
29961505Intracranial Calcifications in Young Children.Semin Pediatr Neurol2018
  • 1 - 50 of 182

Recommended Authors

Baylor College of Medicine
Career Start Year 2011
Number of shared co-authors 1
Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Career Start Year 2010
Number of shared co-authors 6
Alnylam Pharmaceuticals
Career Start Year 2009
Number of shared co-authors 0
University of California San Francisco
Career Start Year 2009
Number of shared co-authors 1
Boston Children's Hospital
Career Start Year 2006
Number of shared co-authors 2
University of Ottawa, Canada Children's Hospital of Eastern Ontario
Career Start Year 2005
Number of shared co-authors 0
Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 1
To Cure A Rose Foundation
Career Start Year 2002
Number of shared co-authors 1
Erasmus MC Sophia Children's Hospital
Career Start Year 1999
Number of shared co-authors 2
Center for Fetal Research, Children's Hospital of Philadelphia
Career Start Year 1998
Number of shared co-authors 0
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 5
University of British Columbia
Career Start Year 1997
Number of shared co-authors 2
Center for Precision Medicine Research, Marshfield Clinic Research Institute
Career Start Year 1995
Number of shared co-authors 5
Washington University in St. Louis
Career Start Year 1995
Number of shared co-authors 0
and Blood Institute, National Institutes of Health
Career Start Year 1994
Number of shared co-authors 1
Boston Children's Hospital, Harvard Medical School
Career Start Year 1993
Number of shared co-authors 16
UNIVERSITY OF MONTREAL
Career Start Year 1991
Number of shared co-authors 1
Royal Adelaide Hospital
Career Start Year 1990
Number of shared co-authors 2
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Career Start Year 1989
Number of shared co-authors 5
University of Montreal
Career Start Year 1989
Number of shared co-authors 0
Center for Cardiovascular Innovation, University of British Columbia
Career Start Year 1988
Number of shared co-authors 3
Research Center, Centre Hospitalier Universitaire Sainte-Justine
Career Start Year 1987
Number of shared co-authors 1
Cincinnati Children's Hospital Medical Center
Career Start Year 1985
Number of shared co-authors 5
Icahn School of Medicine at Mount Sinai
Career Start Year 1985
Number of shared co-authors 12
Centers for Disease Control and Prevention
Career Start Year 1982
Number of shared co-authors 16
Columbia University
Career Start Year 1980
Number of shared co-authors 4
College of Human Medicine, Michigan State University
Career Start Year 1979
Number of shared co-authors 1
Johns Hopkins McKusick-Nathans Department of Genetic Medicine
Career Start Year 1974
Number of shared co-authors 5
Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite
Career Start Year 1974
Number of shared co-authors 4
Clinica Alemana Universidad del Desarrollo
Career Start Year 1964
Number of shared co-authors 4

Collaborators

University of Mississippi Medical Center
Co-authored papers 23
Centers for Disease Control and Prevention Atlanta GA USA.
Co-authored papers 13
Centers for Disease Control and Prevention
Co-authored papers 13
Co-authored papers 11
Centers for Disease Control and Prevention
Co-authored papers 9
Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences
Co-authored papers 8
Co-authored papers 6
Co-authored papers 6
MassGeneral Hospital for Children
Co-authored papers 6
The Johns Hopkins University School of Medicine
Co-authored papers 5
Co-authored papers 5
Emory University
Co-authored papers 4
Emory University Division of Cardiology Atlanta Georgia USA.
Co-authored papers 3
Rollins School of Public Health Emory University Atlanta GA.
Co-authored papers 3
Centers for Disease Control and Prevention
Co-authored papers 3
Co-authored papers 3
BioFire Diagnostics LLC
Co-authored papers 2
Prince of Wales Hospital
Co-authored papers 2
Centers for Disease Control and Prevention Atlanta GA.
Co-authored papers 2
Boston Children's Hospital
Co-authored papers 2
Massachusetts General Hospital
Co-authored papers 2
Center for Precision Environmental Health, Baylor College of Medicine
Co-authored papers 2
King Edward Memorial Hospital
Co-authored papers 2
Co-authored papers 2
Stanford University School of Medicine
Co-authored papers 2
School of Public Health, University at Albany
Co-authored papers 2
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
Co-authored papers 1
Mayo Clinic Rochester MN USA.
Co-authored papers 1