Author

Lora Bean

Observed names: Lora H Bean, Lora H. Bean, Lora J.H. Bean

Institution: Revvity (United States)

Observed institutions: Emory University, University of California, Los Angeles, University of Florida Health, American College of Medical Genetics, Jefferson Einstein Philadelphia Hospital, Henry Ford Hospital, University of Florida, Akron Children's Hospital, Revvity (United States)

OpenAlex ID: A5046687796

Epidemiology of Down syndrome

2007 · Stephanie L. Sherman, Emily G. Allen, et al. · Mental Retardation and Developmental Disabilities Research Reviews · 562

Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project

2008 · Sallie B. Freeman, Lora H. Bean, et al. · Genetics in Medicine · 315

ACMG position statement on prenatal/preconception expanded carrier screening

2013 · Wayne W. Grody, Barry H. Thompson, et al. · Genetics in Medicine · 254

Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project

2013 · NaTasha D. Hollis, Emily G. Allen, et al. · American Journal of Medical Genetics Part A · 76

Epimerase Deficiency Galactosemia

2016 · Judith L. Fridovich‐Keil, Lora Bean, et al. · Europe PMC (PubMed Central) · 28

Detection limit of intragenic deletions with targeted array comparative genomic hybridization

2013 · S Hussain Askree, Ephrem LH Chin, et al. · BMC Genetics · 18

ACMG Position Statement on Prenatal/Preconception Expanded Carrier Screening

2013 · Wayne W. Grody, Barry H. Thompson, et al. · Obstetrical & Gynecological Survey · 9

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia

2015 · Ying Liu, Alpa Sidhu, et al. · Clinica Chimica Acta · 2

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

2024 · Ruby Liu, Babi Ramesh Reddy Nallamilli, et al. · Genetics in Medicine Open

Table 1. [Molecular Genetic Testing Used in Epimerase Deficiency Galactosemia].

2021 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Table 6. [Notable GALE Pathogenic Variants].

2021 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Table A. [Epimerase Deficiency Galactosemia: Genes and Databases].

2021 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Table B. [OMIM Entries for Epimerase Deficiency Galactosemia (View All in OMIM)].

2021 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Table 2. [Generalized Epimerase Deficiency Galactosemia: Frequency of Select Features].

2021 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Table 2. [Selected GALE Allelic Variants].

2016 · Judith L. Fridovich‐Keil, Lora Bean, et al.

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing

2016 · Linnea M Baudhuin, Birgit H Funke, et al. · Clinical Chemistry

Works count: 16

Citation count: 1,264

H-index: 7

I10-index: 6