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Lora J. H. Bean · SciRah

Researcher profile · Semantic Scholar

Lora J. H. Bean

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Lora J. H. Bean — researcher profile on SciRah

h-index: 27
Works: 66
Citations: 2,986

Most-cited papers

Epidemiology of Down syndrome.
S. Sherman, E. G. Allen, Lora J. H. Bean, S. Freeman
2007Mental Retardation and Developmental Disabilities Research Reviews536 citations
Semantic Scholar
Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project
S. Freeman, Lora J. H. Bean, E. G. Allen, Stuart W. Tinker +8 more
2008Genetics in Medicine294 citations Open access
Semantic Scholar
ACMG position statement on prenatal/preconception expanded carrier screening
W. Grody, B. H. Thompson, A. Gregg, Lora J. H. Bean +3 more
2013Genetics in Medicine257 citations Open access
Semantic Scholar
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
Arunkanth Ankala, Cristina da Silva, F. Gualandi, A. Ferlini +4 more
2015Annals of Neurology169 citations Open access
Semantic Scholar
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
C. Rehder, Lora J. H. Bean, D. Bick, Elizabeth C. Chao +6 more
2021Genetics in Medicine134 citations Open access
Semantic Scholar
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Lora J. H. Bean, B. Funke, C. Carlston, J. Gannon +4 more
2019Genetics in Medicine133 citations Open access
Semantic Scholar
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
Tracy Brandt, Laura M. Sack, D. Arjona, Duanjun Tan +12 more
2019Genetics in Medicine133 citations Open access
Semantic Scholar
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
C. Ackerman, A. Locke, E. Feingold, Benjamin Reshey +9 more
2012American Journal of Human Genetics118 citations Open access
Semantic Scholar
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
C. Maslen, D. Babcock, S. Robinson, Lora J. H. Bean +3 more
2006American Journal of Medical Genetics. Part A98 citations
Semantic Scholar
Variation in Folate Pathway Genes Contributes to Risk of Congenital Heart Defects Among Individuals With Down Syndrome
A. Locke, K. Dooley, Stuart W. Tinker, Soo Yeon Cheong +11 more
2010Genetic Epidemiology83 citations Open access
Semantic Scholar
American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease
Lora J. H. Bean, P. Bayrak-Toydemir
2014Genetics in Medicine69 citations Open access
Semantic Scholar
Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project
Lora J. H. Bean, E. G. Allen, Stuart W. Tinker, NaTasha D. Hollis +10 more
2011Birth defects research. Clinical and molecular teratology59 citations Open access
Semantic Scholar
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Kathryn B. Garber, L. Vincent, J. Alexander, Lora J. H. Bean +2 more
2016American Journal of Human Genetics55 citations Open access
Semantic Scholar
Free the Data: One Laboratory's Approach to Knowledge‐Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
Lora J. H. Bean, Stuart W. Tinker, Cristina da Silva, M. Hegde
2013Human Mutation53 citations Open access
Semantic Scholar
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase
A. E. Carney, Rebecca D. Sanders, Kerry R Garza, L. McGaha +6 more
2009Human Molecular Genetics49 citations Open access
Semantic Scholar
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21
Tiffany R. Oliver, Stuart W. Tinker, E. G. Allen, NaTasha D. Hollis +8 more
2011Human Genetics48 citations Open access
Semantic Scholar
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Melanie A. Jones, Devin Rhodenizer, Cristina da Silva, Israel Huff +7 more
2013Molecular Genetics and Metabolism46 citations
Semantic Scholar
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project
J. Hunter, E. G. Allen, Mikyong Shin, Lora J. H. Bean +9 more
2013Genetics in Medicine46 citations Open access
Semantic Scholar
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
Marwan K. Tayeh, Ephrem L. H. Chin, V. R. Miller, Lora J. H. Bean +2 more
2009Genetics in Medicine44 citations Open access
Semantic Scholar
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project
NaTasha D. Hollis, Emily G. Allen, Tiffany R. Oliver, Stuart W. Tinker +9 more
2013American Journal of Medical Genetics. Part A39 citations Open access
Semantic Scholar
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing
Johanna L. Schmidt, A. Pizzino, J. Nicholl, Allison Foley +23 more
2020American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Contribution of Copy Number Variation to Down Syndrome-associated Atrioventricular Septal Defects
D. Ramachandran, J. Mulle, A. Locke, Lora J. H. Bean +10 more
2014Genetics in Medicine32 citations Open access
Semantic Scholar
Epimerase Deficiency Galactosemia
J. L. Fridovich-Keil, Lora J. H. Bean, M. He, R. Schroer
201631 citations
Semantic Scholar
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects
D. Ramachandran, Z. Zeng, A. Locke, J. Mulle +11 more
2015G3: Genes, Genomes, Genetics29 citations Open access
Semantic Scholar
Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
Benjamin L. Rambo-Martin, J. Mulle, D. Cutler, Lora J. H. Bean +8 more
2017G3: Genes, Genomes, Genetics27 citations Open access
Semantic Scholar
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Lora J. H. Bean, Madhuri Hegde
2016Human Mutation27 citations Open access
Semantic Scholar
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
Candace D. Middlebrooks, N. Mukhopadhyay, Stuart W. Tinker, E. G. Allen +8 more
2014Human Molecular Genetics27 citations Open access
Semantic Scholar
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Lora J. H. Bean, M. Hegde
2017Genome Medicine25 citations Open access
Semantic Scholar
The virtual diagnostic laboratory: A new way of teaching undergraduate medical students about genetic testing
Lora J. H. Bean, J. L. Fridovich-Keil, M. Hegde, M. K. Rudd +1 more
2011Genetics in Medicine25 citations Open access
Semantic Scholar
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Lora J. H. Bean, M. Scheuner, M. Murray, L. Biesecker +7 more
2021Genetics in Medicine24 citations Open access
Semantic Scholar
Smarter clustering methods for SNP genotype calling
Yan Lin, G. Tseng, Soo Yeon Cheong, Lora J. H. Bean +2 more
2008Bioinform.23 citations Open access
Semantic Scholar
Two Angelman Families with Unusually Advanced Neurodevelopment Carry a Start Codon Variant in the Most Highly Expressed UBE3A Isoform
A. Sadhwani, N. Sanjana, Jennifer M. Willen, S. Calculator +4 more
2018American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
Linkage disequilibrium mapping in trisomic populations: Analytical approaches and an application to congenital heart defects in Down syndrome
Kimberly F. Kerstann, E. Feingold, S. Freeman, Lora J. H. Bean +5 more
2004Genetic Epidemiology21 citations
Semantic Scholar
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
Hong Li, Lihua Zhao, Rani H. Singh, J. N. Ham +6 more
2018Molecular Genetics and Metabolism Reports20 citations Open access
Semantic Scholar
Detection limit of intragenic deletions with targeted array comparative genomic hybridization
S. H. Askree, E. Chin, Lora J. H. Bean, Bradford Coffee +2 more
2013BMC Genetics20 citations Open access
Semantic Scholar
An Examination of the Relationship between Hotspots and Recombination Associated with Chromosome 21 Nondisjunction
Tiffany R. Oliver, Candace D. Middlebrooks, Stuart W. Tinker, E. G. Allen +6 more
2014PLoS ONE19 citations Open access
Semantic Scholar
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
J. Balciuniene, Ruby Liu, Lora J. H. Bean, Fen Guo +12 more
2023JAMA Network Open18 citations Open access
Semantic Scholar
Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
D. McKnight, Lora J. H. Bean, I. Karbassi, K. Beattie +14 more
2021Human Mutation16 citations Open access
Semantic Scholar
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization
Celeste C. Eno, P. Bayrak-Toydemir, Lora J. H. Bean, Alicia A. Braxton +15 more
2018Genetics in Medicine16 citations Open access
Semantic Scholar
Regulating whole exome sequencing as a diagnostic test
V. Lapin, Lindsey Mighion, Cristina da Silva, Ymkje Cuperus +2 more
2016Human Genetics15 citations
Semantic Scholar
Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease
Lora J. H. Bean, P. Bayrak-Toydemir
2014Genetics in Medicine13 citations Open access
Semantic Scholar
A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis.
Lawrence N. Hjelm, Ephrem L. H. Chin, M. Hegde, Bradford Coffee +1 more
2010Journal of Molecular Diagnostics10 citations Open access
Semantic Scholar
Mowat‐Wilson syndrome with craniosynostosis: A case report
Margaret P. Adam, April N. Justice, Lora J. H. Bean, P. Fernhoff
2008American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
A 7‐month‐old male with Allan‐Herndon‐Dudley syndrome and the power of T3
Katherine G. Langley, Steven P. Trau, Lora J. H. Bean, Alekhya Narravula +1 more
2015American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
Maternal Age and Oocyte Aneuploidy: Lessons Learned from Trisomy 21
S. Sherman, E. G. Allen, Lora J. H. Bean
20136 citations
Semantic Scholar
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants
Tracy Brandt, Laura M. Sack, D. Arjona, Duanjun Tan +12 more
2019Genetics in Medicine4 citations Open access
Semantic Scholar
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Lora J. H. Bean, M. Hegde
2016Human Mutation3 citations Open access
Semantic Scholar
Novel human pathological mutations
Ephrem L. H. Chin, Lora J. H. Bean, Bradford Coffee, M. Hegde
2009Human Genetics3 citations
Semantic Scholar
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.
V. Nardi, K. Tsuchiya, Annette S. Kim, Lora J. H. Bean +7 more
2021Archives of Pathology & Laboratory Medicine2 citations Open access
Semantic Scholar
Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia
Ying Liu, A. Sidhu, Lora J. H. Bean, R. Conway +1 more
2015Clinica chimica acta; international journal of clinical chemistry2 citations Open access
Semantic Scholar

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S. Sherman — researcher profile on SciRah
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Stuart W. Tinker×9
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E. G. Allen×8
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