Publications by authors named "Angela Scheuerle"

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A Population-Based Assessment of Cancer Risk in Children With VACTERL.
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D Harris, Tania A Desrosiers, Angela E Scheuerle

Am J Med Genet A· December 2025

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Angela E Scheuerle

Genet Med· November 2025

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Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.
Angela E Scheuerle, Timothy A Geleske, Nadia Merchant, Paula C Goldenberg,

Pediatrics· August 2025

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Birth Defects and Adverse Pregnancy Outcomes in Hospital-based Birth Surveillance in Eswatini.
Michelle M Gill, Philisiwe Ntombenhle Khumalo, Heather J Hoffman, Caspian Chouraya, Mthokozisi Kunene, Angela E Scheuerle

Pediatr Infect Dis J· May 2025

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Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p.
Carter A Wright, Angela E Scheuerle, Kathleen Wilson, Rolando García, Prasad Koduru

Mol Cytogenet· February 2025

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Maternal Diarrhea During the Periconceptional Period and the Risk of Birth Defects, National Birth Defects Prevention Study, 2006-2011.
Dorothy Kim Waller, Nithya Lakshmi Mohan Dass, Omobola O Oluwafemi, A J Agopian, Ji Yun Tark, Angela E Scheuerle

Birth Defects Res· February 2025

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Pharmacovigilance Pregnancy Data in a Population of Japanese Patients With Chronic Inflammatory Disease Exposed to Certolizumab Pegol.
Mikako Goto, Shigeru Saito, Angela E Scheuerle, Shinya Yasuda, Niamh Houston

Int J Rheum Dis· January 2025

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Classification of isolated versus multiple birth defects: An automated process for population-based registries.
Renata H Benjamin, Joanne M Nguyen, Margaret Drummond-Borg, Angela E Scheuerle, Peter H Langlois

Am J Med Genet A· October 2024

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Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999-2018.
Renata H Benjamin, Lisa K Marengo, Angela E Scheuerle, A J Agopian, Laura E Mitchell

Am J Med Genet A· June 2024

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The Antiretroviral Pregnancy Registry: Three decades of prospective monitoring for birth defects.
Jessica D Albano, Angela E Scheuerle, D Heather Watts, Karen P Beckerman, Lynne M Mofenson

Pharmacoepidemiol Drug Saf· June 2024

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An interactive web application for exploring human plasma and fibroblast metabolomics data from patients with inborn errors of metabolism.
Ling Cai, Hieu S Vu, Wen Gu, Hongli Chen, Jordan Franklin, Angela Scheuerle

bioRxiv· December 2023

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Neonatal Encephalopathy with Hiccups and an Updated Diagnostic Approach.
Riti K Chokshi, Anna Cheng, Leah Ferrante, Michelle Machie, Angela E Scheuerle

Neoreviews· November 2023

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Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
Angela E Scheuerle, Min Ni, Aaliya A Ahmad, Charles F Timmons, Dinesh Rakheja

Am J Med Genet A· September 2023

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Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini.
Michelle M Gill, Philisiwe Khumalo, Caspian Chouraya, Mthokozisi Kunene, Futhi Dlamini, Angela E Scheuerle

Open Forum Infect Dis· September 2023

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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, Angela E Scheuerle

Am J Med Genet A· August 2023

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Sunspot activity and birth defects among Texas births (1999-2016).
Adrienne T Hoyt, Charles J Shumate, Peter H Langlois, Dorothy K Waller, Angela E Scheuerle

Birth Defects Res· July 2023

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Patterns of co-occurring birth defects in children with anotia and microtia.
Jeremy M Schraw, Renata H Benjamin, Charles J Shumate, Mark A Canfield, Daryl A Scott, Angela E Scheuerle

Am J Med Genet A· March 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Angela E Scheuerle

Am J Hum Genet· February 2023

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Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact.
Renata H Benjamin, Laura E Mitchell, Angela E Scheuerle, Peter H Langlois, Mark A Canfield

Am J Med Genet A· January 2023

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Karyotype Anomalies in Patients with Disorders of Sexual Development.
Monique Morrison, Sangeeta Patel, Sou Saukam, Alycia Willard, Maria Grace Santiago, Angela Scheuerle

J Assoc Genet Technol· January 2023

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The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Haowei Du, Angad Jolly, Christopher M Grochowski, Bo Yuan, Moez Dawood, Angela E Scheuerle

Genome Med· October 2022

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Health Supervision for Children and Adolescents With Down Syndrome.
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, Celanie Christensen, Randall W Grout, Angela Scheuerle

Pediatrics· May 2022

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Pharmacovigilance pregnancy data in a large population of patients with chronic inflammatory disease exposed to certolizumab pegol.
Megan Clowse, Rebecca Fischer-Betz, Catherine Nelson-Piercy, Angela E Scheuerle, Brigitte Stephan

Ther Adv Musculoskelet Dis· April 2022

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Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8].
Katherine L Ludorf, Renata H Benjamin, Maria Luisa Navarro Sanchez, Scott D McLean, Hope Northrup, Angela E Scheuerle

J Pediatr Urol· August 2021

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