Publications by authors named "Beth Pletcher"

Claim this Profile
B
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Chadi Al Alam, Beth A Pletcher

Eur J Hum Genet· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Caitlin Menello, Shaney Pressley, Madeline Steffensen, Sarah Schmidt, Helio Pedro, Beth Pletcher

Int J Neonatal Screen· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intraspinal lipomatous neurofibroma in a child with atypical Proteus syndrome.
Catrina Estrella, Shaan Mody, Beth Pletcher, Ada Baisre, Huey-Jen Lee

Childs Nerv Syst· December 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
Eeshan Khurana, Jennifer Orth, Beth Pletcher, Roger E Turbin, Catherine A Mazzola

Childs Nerv Syst· August 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Beth A Pletcher

Nat Genet· March 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
W
Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.
Changqing Xia, Dibyendu Kumar, Bei You, Deanna L Streck, Lisa Osborne, Beth A Pletcher

J Pediatr Genet· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Beth Pletcher

Brain· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Rameen Shah, Christin Johnsen, Beth A Pletcher, Andrew C Edmondson, Tamas Kozicz

Am J Med Genet A· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Beth A Pletcher

Clin Genet· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.
Ravi Upadhyay, Claire Ruane, Rachel Umans, Beth A Pletcher, Aditi Khokhar

Case Rep Endocrinol· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, Catherine Schramm, Francisca Millan Zamora, Beth A Pletcher

Hum Genet· January 2022

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, Beth A Pletcher

Mol Genet Genomic Med· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.
Ari R Berg, Beth A Pletcher, O Folorunsho Edobor-Osula

JBJS Case Connect· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pulmonary Manifestations of Genetic Disorders in Children.
Beth A Pletcher, Nelson L Turcios

Pediatr Clin North Am· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A trauma-informed approach to the pediatric COVID-19 response.
Binny Chokshi, Beth A Pletcher, Joshua S Strait

Curr Probl Pediatr Adolesc Health Care· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
4
46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.
Mia Kunitomo, Aditi Khokhar, Christina Kresge, Folorunsho Edobor-Osula, Beth A Pletcher

Am J Med Genet A· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Beth A Pletcher

J Inherit Metab Dis· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity.
Allysa Tuite, Michelle Dalla Piazza, Kristyn Brandi, Beth A Pletcher

J Genet Couns· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
V
Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis Type-1: A case report and review of the literature.
Hael F Abdulrazeq, Ira M Goldstein, Samer T Elsamna, Beth A Pletcher

Heliyon· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Adverse Childhood Experiences: A Case-Based Workshop Introducing Medical Students to Trauma-Informed Care.
Beth A Pletcher, Mary O'Connor, Mary Elizabeth Swift-Taylor, Michelle DallaPiazza

MedEdPORTAL· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in Gene: Clinical Course and Response to Riboflavin.
Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A Pletcher, Chun M Tong, Xue Ming

Child Neurol Open· August 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services.
Michael L Rinke, Amy Driscoll, Natalie Mikat-Stevens, Jill Healy, Elizabeth Colantuoni, Beth A Pletcher

Pediatrics· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1.
Beth A Pletcher, Caroline Hayes-Rosen

J Pediatr· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pediatric resident debt and career intentions.
Mary Pat Frintner, Holly J Mulvey, Beth A Pletcher, Lynn M Olson

Pediatrics· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Beth A Pletcher

Genet Med· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis