Angela Scheuerle
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Explore the profile of Angela Scheuerle including associated specialties, affiliations and a list of published articles.
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37
Citations
523
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Recent Articles
1.
Cai L, Vu H, Gu W, Chen H, Franklin J, Abou Haidar L, et al.
bioRxiv
. 2024 Jan;
PMID: 38168314
Metabolomic profiling is instrumental in understanding the systemic and cellular impact of inborn errors of metabolism (IEMs), monogenic disorders caused by pathogenic genomic variants in genes involved in metabolism. This...
2.
Morrison M, Patel S, Saukam S, Willard A, Santiago M, Martinez D, et al.
J Assoc Genet Technol
. 2023 Jun;
49(2):73-78.
PMID: 37269301
Objectives Disorders of sex development(DSD)can result in discordance between the chromosomal and anatomicand/orphenotypic sex of a patient. Reporting patients with uncommon karyotypes associated with DSD is important for clinical comparison...
3.
Bull M, Trotter T, Santoro S, Christensen C, Burke L, Berry S, et al.
Pediatrics
. 2022 May;
149(5).
PMID: 35490285
No abstract available.
4.
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, et al.
Hum Mutat
. 2015 Jul;
36(11):1052-63.
PMID: 26178382
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive...
5.
OBrien J, Langlois P, Lawson C, Scheuerle A, Rocheleau C, Waters M, et al.
Birth Defects Res A Clin Mol Teratol
. 2015 Jun;
106(1):55-60.
PMID: 26033890
Background: Evidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for...
6.
Simmons K, Hashmi S, Scheuerle A, Canfield M, Hecht J
Birth Defects Res A Clin Mol Teratol
. 2014 Mar;
100(4):247-9.
PMID: 24677650
Background: Natural history studies performed 30 years ago identifying higher mortality among children born with achondroplasia, a genetic dwarfing condition, resulted in clinical recommendations aimed at improving mortality in childhood....
7.
Schaaf C, Boone P, Sampath S, Williams C, Bader P, Mueller J, et al.
Eur J Hum Genet
. 2012 May;
20(12):1240-7.
PMID: 22617343
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism...
8.
Scheuerle A
J Registry Manag
. 2011 Nov;
38(1):4-8.
PMID: 22097699
Background: Public health birth defect surveillance registries rely on health care provider diagnosis and definition of congenital anomalies. Major anomalies are likely to have consistent diagnoses across providers; however, definition...
9.
Nicholson G, Lenk G, Reddel S, Grant A, Towne C, Ferguson C, et al.
Brain
. 2011 Jun;
134(Pt 7):1959-71.
PMID: 21705420
Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in more than 30 genes. Charcot-Marie-Tooth disease type 4J (OMIM 611228) is a recessive, potentially...
10.
Ramadhani T, Canfield M, Farag N, Royle M, Correa A, Waller D, et al.
Birth Defects Res A Clin Mol Teratol
. 2011 Jun;
91(9):823-30.
PMID: 21656900
Background: We examined differences in selected pregnancy-related risk factors, including maternal sociodemographic characteristics, health-related conditions, and periconceptional behavioral factors, among foreign-born versus U.S.-born control mothers across race/ethnic groups. Methods: We...