Publications by authors named "Elizabeth Roeder"

Claim this Profile
P
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Elizabeth R Roeder

J Clin Invest· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth R Roeder

Eur J Hum Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth R Roeder

Eur J Hum Genet· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Elizabeth Roeder

Genet Med· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Elizabeth Roeder

Am J Med Genet A· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
Weimin Bi, Bo Yuan, Pengfei Liu, Jaclyn B Murry, Xiang Qin, Elizabeth R Roeder

J Med Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Elizabeth Roof, Cheri L Deal, Shawn E McCandless, Ronald L Cowan, Jennifer L Miller, Elizabeth R Roeder

J Clin Endocrinol Metab· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Elizabeth R Roeder

Am J Hum Genet· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M R Taylor, Elizabeth R Roeder

Am J Hum Genet· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F Palafox, Angela Wei, Elizabeth R Roeder

Mol Genet Genomic Med· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Elizabeth R Roeder

Ann Neurol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.
Min Ni, Lauren F Black, Chunxiao Pan, Hieu Vu, Jimin Pei, Elizabeth Roeder

J Inherit Metab Dis· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Fanny Mochel, Agnès Rastetter, Berten Ceulemans, Konrad Platzer, Sandra Yang, Elizabeth R Roeder

Brain· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Elizabeth R Roeder

Am J Med Genet A· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Elizabeth Roeder

Hum Mutat· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Elizabeth R Roeder

Genet Med· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Elizabeth R Roeder

Genet Med· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mutation update for the SATB2 gene.
Yuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, Jonathan A Bernstein, Donna M Martin, Elizabeth R Roeder

Hum Mutat· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Elizabeth Roeder

Genome Med· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cornelia de Lange syndrome in diverse populations.
Leah Dowsett, Antonio R Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Elizabeth Roeder

Am J Med Genet A· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, Mohnish Suri, Andrea M Lewis, Elizabeth Roeder

Genome Med· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A Karolak, Lauren Currie, Elizabeth Roeder

Hum Mutat· December 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Elizabeth R Roeder

Genet Med· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Li Chen, Philip J Jensik, Joseph T Alaimo, Magdalena Walkiewicz, Seth Berger, Elizabeth Roeder

Hum Mutat· December 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of novel candidate disease genes from de novo exonic copy number variants.
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Elizabeth R Roeder

Genome Med· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis