Elizabeth A. Normand

Author

Baylor College of Medicine

Also Known As

E Normand, Elizabeth A Normand, Elizabeth A. Normand, Elizabeth Normand, Elizabeth A. Normand

Publications

Citations

H-Index

Concepts

All Affiliations

Baylor College of Medicine Istituti di Ricovero e Cura a Carattere Scientifico Inserm Universität Hamburg Meyer Children's Hospital

About

Elizabeth A. Normand is an author at Baylor College of Medicine specializing in neurogenetics, medicine, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	196
2	Neurology	3	3	128
3	Social Sciences	2	2	83
4	Cell Biology	2	2	30
5	Health Sciences	1	1	15

Elizabeth A. Normand

Publications

618

Citations

H-Index

Page 1

	Year	Citations
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Genome Medicine	2018	158
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing Amy M. Breman, Jennifer Chow, Lance U’Ren, Prenatal Diagnosis	2016	116
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women Steen Kølvraa, Ripudaman Singh, Elizabeth A. Normand, Prenatal Diagnosis	2016	106
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Nature Genetics Developmental AnomalyPathogenic Sptbn1 VariantsBrain DevelopmentMedicineGenetics	2021	98
Temporal and Mosaic Tsc1 Deletion in the Developing Thalamus Disrupts Thalamocortical Circuitry, Neural Function, and Behavior Elizabeth A. Normand, Shane R. Crandall, Catherine A. Thorn, Neuron Synaptic PlasticityDevelopmental BiologyNeural ScienceNeurophysiologyNeuroanatomy	2013	68
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells Elizabeth A. Normand, Sadeem Qdaisat, Weimin Bi, Prenatal Diagnosis	2016	26
A Practical Approach to Genetic Inducible Fate Mapping: A Visual Guide to Mark and Track Cells <em>In Vivo</em> Ashly Brown, Stephen Brown, Debra Ellisor, Journal of Visualized Experiments	2009	16
<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Human Molecular Genetics Axon GuidanceNeurological DisorderGeneticsNeurological ProgressDisease Gene Identification	2022	15
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Brain Brain DevelopmentGeneticsMotor DevelopmentGenomic MechanismGene Characterization	2023	15

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