Publications by authors named "Elizabeth Normand"

Claim this Profile
G
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies.
Erfan Aref-Eshghi, Katherine J Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Elizabeth A Normand

HGG Adv· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Elizabeth A Normand

Brain· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves, Elizabeth A Normand

Hum Genet· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Elizabeth A Normand

Hum Mol Genet· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Delineating the genotypic and phenotypic spectrum of -related neurodevelopmental disorders.
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Elizabeth A Normand

J Med Genet· July 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Elizabeth A Normand

Nat Genet· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song

N Engl J Med· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini

Genome Med· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Exome and genome sequencing in reproductive medicine.
Elizabeth A Normand, Joseph T Alaimo, Ignatia B Van den Veyver

Fertil Steril· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B van den Veyver

Prenat Diagn· December 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
Amy M Breman, Jennifer C Chow, Lance U'Ren, Elizabeth A Normand, Sadeem Qdaisat

Prenat Diagn· November 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.
Elizabeth Normand, Sadeem Qdaisat, Weimin Bi, Chad Shaw, Ignatia Van den Veyver

Prenat Diagn· September 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Subcellular patterning: axonal domains with specialized structure and function.
Elizabeth A Normand, Matthew N Rasband

Dev Cell· February 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
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, Emily M Murphy, Bettina Voelcker

Neuron· June 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A practical approach to genetic inducible fate mapping: a visual guide to mark and track cells in vivo.
Ashly Brown, Stephen Brown, Debra Ellisor, Nellwyn Hagan, Elizabeth Normand

J Vis Exp· December 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis