Angela Scheuerle

  • 2058 Citations
  • 26 h-Index
1990 …2020

Research output per year

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Research Output

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

Yan, J., Zhang, F., Brundage, E., Scheuerle, A., Lanpher, B., Erickson, R. P., Powis, Z., Robinson, H. B., Trapane, P. L., Stachiw-Hietpas, D., Keppler-Noreuil, K. M., Lalani, S. R., Sahoo, T., Chinault, A. C., Patel, A., Cheung, S. W. & Lupski, J. R., Sep 1 2009, In : Journal of medical genetics. 46, 9, p. 626-634 9 p.

Research output: Contribution to journalArticle

41 Scopus citations

Gonadal mosaicism for incontinentia pigmenti in a healthy male

Kirchman, T. T. T., Levy, M. L., Lewis, R. A., Kanzler, M. H., Nelson, D. L. & Scheuerle, A. E., Jan 1 1995, In : Journal of medical genetics. 32, 11, p. 887-890 4 p.

Research output: Contribution to journalArticle

25 Scopus citations

Good practice eliminates dilemmas

Scheuerle, A., Mar 2001, In : American Journal of Bioethics. 1, 3, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Health care supervision for children with Williams syndrome

COUNCIL ON GENETICS EXECUTIVE COMMITTEE, Feb 1 2020, In : Pediatrics. 145, 2

Research output: Contribution to journalArticle

Open Access

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
11 Scopus citations

Heterogeneity of Cerebral Palsy

Scheuerle, A. E., Apr 1996, In : Archives of Pediatrics & Adolescent Medicine. 150, 4, 1 p.

Research output: Contribution to journalLetter

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B. & 53 others, Cortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 2015, In : Human mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journalArticle

64 Scopus citations

Incontinentia pigmenti in adults

Scheuerle, A., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

1 Scopus citations

Insight into IKBKG/NEMO locus: Report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease

Conte, M. I., Pescatore, A., Paciolla, M., Esposito, E., Miano, M. G., Lioi, M. B., Mcaleer, M. A., Giardino, G., Pignata, C., Irvine, A. D., Scheuerle, A. E., Royer, G., Hadj-Rabia, S., Bodemer, C., Bonnefont, J. P., Munnich, A., Smahi, A., Steffann, J., Fusco, F. & Ursini, M. V., Feb 1 2014, In : Human mutation. 35, 2, p. 165-177 13 p.

Research output: Contribution to journalArticle

51 Scopus citations

Investigation into an increase in plagiocephaly in Texas from 1999 to 2007

Sheu, S. U., Ethen, M. K., Scheuerle, A. E. & Langlois, P. H., Aug 1 2011, In : Archives of Pediatrics and Adolescent Medicine. 165, 8, p. 708-713 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Involvement of the thymus and cellular immune system in craniofacial malformation syndromes

Scheuerle, A. E., Good, R. A. & Habal, M. B., Apr 1990, In : Journal of Craniofacial Surgery. 1, 2, p. 88-90 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Levetiracetam Pregnancy Registry: Final results and a review of the impact of registry methodology and definitions on the prevalence of major congenital malformations

Scheuerle, A. E., Holmes, L. B., Albano, J. D., Badalamenti, V., Battino, D., Covington, D., Harden, C., Miller, D., Montouris, G. D., Pantaleoni, C., Thorp, J., Tofighy, A., Tomson, T. & Golembesky, A. K., 2019, In : Birth Defects Research. 111, 13, p. 872-887 16 p.

Research output: Contribution to journalArticle

2 Scopus citations

Limits of the genetic revolution

Scheuerle, A., Jan 1 2001, In : Archives of Pediatrics and Adolescent Medicine. 155, 11, p. 1204-1209 6 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Campo, M. D., Di Donato, N., Diakumis, P., Dubbs, H. & 64 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Consortium, C. R. C., Mohammed, S., Moran, E., Mortier, G. R., Moser, J. A. S., Noon, S. E., Nozaki, N., Nunes, L., Pappas, J. G., Penney, L. S., Pérez-Aytés, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A. E., Schindeler, K. L., Siu, V. M., Stark, Z., Strom, S. P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L. C., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F. J., Jackson, L. G., Shirahige, K., Pié, J., Christianson, D. W., Krantz, I. D., Fitzpatrick, D. R. & Deardorff, M. A., 2014, In : Human molecular genetics. 23, 11, p. 2888-2900 13 p., ddu002.

Research output: Contribution to journalArticle

76 Scopus citations

Macroglossia: More than meets the eye [4]

Scheuerle, A. E., Jan 1 1996, In : Journal of Pediatrics. 128, 6, 1 p.

Research output: Contribution to journalLetter

Male cases of incontinentia pigmenti: Case report and review

Scheuerle, A. E., May 18 1998, In : American Journal of Medical Genetics. 77, 3, p. 201-218 18 p.

Research output: Contribution to journalArticle

64 Scopus citations

Mandibulofacial dysostosis with microcephaly: Mutation and database update

Care4Rare Canada Consortium & UCLA Clinical Genomics Center, 2016, In : Human mutation. 37, 2, p. 148-154 7 p.

Research output: Contribution to journalArticle

15 Scopus citations
7 Scopus citations

Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring

Langlois, P. H., Brender, J. D., Suarez, L., Zhan, F. B., Mistry, J. H., Scheuerle, A. & Moody, K., Jul 1 2009, In : Paediatric and Perinatal Epidemiology. 23, 4, p. 321-331 11 p.

Research output: Contribution to journalArticle

26 Scopus citations

Maternal use of hot tub and major structural birth defects

Duong, H. T., Shahrukh Hashmi, S., Ramadhani, T., Canfield, M. A., Scheuerle, A. & Kim Waller, D., Sep 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 9, p. 836-841 6 p.

Research output: Contribution to journalArticle

26 Scopus citations

Measurements of birth defect prevalence: Which is most useful as a comparator group for pharmaceutical pregnancy registries?

Scheuerle, A., Vannappagari, V. X. & Miller, M. K., Jul 1 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 7, p. 611-620 10 p.

Research output: Contribution to journalReview article

7 Scopus citations

Medicine's questions.

Scheuerle, A., Sep 1 2010, In : The Journal of craniofacial surgery. 21, 5, 1 p.

Research output: Contribution to journalEditorial

Mortality in babies with achondroplasia: Revisited

Simmons, K., Hashmi, S. S., Scheuerle, A., Canfield, M. & Hecht, J. T., Apr 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 4, p. 247-249 3 p.

Research output: Contribution to journalArticle

15 Scopus citations

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

Simpson, M. A., Scheuerle, A., Hurst, J., Patton, M. A., Stewart, C. & Crosby, A. H., Feb 25 2009, In : Clinical Genetics. 75, 3, p. 271-276 6 p.

Research output: Contribution to journalArticle

63 Scopus citations

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Nguyen, T. T. M., Murakami, Y., Wigby, K. M., Baratang, N. V., Rousseau, J., St-Denis, A., Rosenfeld, J. A., Laniewski, S. C., Jones, J., Iglesias, A. D., Jones, M. C., Masser-Frye, D., Scheuerle, A. E., Perry, D. L., Taft, R. J., Le Deist, F., Thompson, M., Kinoshita, T. & Campeau, P. M., Oct 4 2018, In : American Journal of Human Genetics. 103, 4, p. 602-611 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

Scaglia, F., Scheuerle, A. E., Towbin, J. A., Armstrong, D. L., Sweetman, L. & Wong, L. J. C., Dec 30 2002, In : BMC Pediatrics. 2, 12.

Research output: Contribution to journalArticle

10 Scopus citations

Occurrence of conotruncal heart birth defects in Texas: A comparison of urban/rural classifications

Langlois, P. H., Jandle, L., Scheuerle, A., Horel, S. A. & Carozza, S. E., Mar 1 2010, In : Journal of Rural Health. 26, 2, p. 164-174 11 p.

Research output: Contribution to journalArticle

16 Scopus citations
31 Scopus citations

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions

Schaaf, C. P., Boone, P. M., Sampath, S., Williams, C., Bader, P. I., Mueller, J. M., Shchelochkov, O. A., Brown, C. W., Crawford, H. P., Phalen, J. A., Tartaglia, N. R., Evans, P., Campbell, W. M., Chun-Hui Tsai, A., Parsley, L., Grayson, S. W., Scheuerle, A., Luzzi, C. D., Thomas, S. K., Eng, P. A. & 4 others, Kang, S. H. L., Patel, A., Stankiewicz, P. & Cheung, S. W., Dec 1 2012, In : European Journal of Human Genetics. 20, 12, p. 1240-1247 8 p.

Research output: Contribution to journalArticle

64 Scopus citations
42 Scopus citations

Pregnancy Outcomes After Exposure to Certolizumab Pegol: Updated Results From a Pharmacovigilance Safety Database

Clowse, M. E. B., Scheuerle, A. E., Chambers, C., Afzali, A., Kimball, A. B., Cush, J. J., Cooney, M., Shaughnessy, L., Vanderkelen, M. & Förger, F., Sep 2018, In : Arthritis and Rheumatology. 70, 9, p. 1399-1407 9 p.

Research output: Contribution to journalArticle

32 Scopus citations

Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort

Namazy, J. A., Blais, L., Andrews, E. B., Scheuerle, A. E., Cabana, M. D., Thorp, J. M., Umetsu, D. T., Veith, J. H., Sun, D., Kaufman, D. G., Covington, D. L., Mukhopadhyay, S., Fogel, R. B., Lopez-Leon, S. & Spain, C. V., Feb 2020, In : Journal of Allergy and Clinical Immunology. 145, 2, p. 528-536.e1

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Prenatal diagnosis and cesarean section in a large, population-based birth defects registry

Case, A. P., Colpitts, L. R., Langlois, P. H. & Scheuerle, A. E., Apr 1 2012, In : Journal of Maternal-Fetal and Neonatal Medicine. 25, 4, p. 395-402 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Prenatal exposure to zidovudine and risk for ventricular septal defects and congenital heart defects: Data from the Antiretroviral Pregnancy Registry

Vannappagari, V., Albano, J. D., Koram, N., Tilson, H., Scheuerle, A. E. & Napier, M. D., Feb 1 2016, In : European Journal of Obstetrics and Gynecology and Reproductive Biology. 197, p. 6-10 5 p.

Research output: Contribution to journalArticle

11 Scopus citations

Pre-Zika descriptive epidemiology of microcephaly in Texas, 2008-2012

Hoyt, A. T., Canfield, M. A., Langlois, P. H., Waller, D. K., Agopian, A. J., Shumate, C. J., Hall, N. B., Marengo, L. K., Ethen, M. K. & Scheuerle, A. E., Jan 1 2017, (Accepted/In press) In : Birth Defects Research.

Research output: Contribution to journalArticle

4 Scopus citations

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

Iqbal, N. S., Jascur, T. A., Harrison, S. M., Edwards, A. B., Smith, L. T., Choi, E. S., Arevalo, M. K., Chen, C., Zhang, S., Kern, A. J., Scheuerle, A. E., Sanchez, E. J., Xing, C. & Baker, L. A., Feb 21 2020, In : BMC Medical Genetics. 21, 1, 38.

Research output: Contribution to journalArticle

Open Access

Qualitative descriptors of disease incidence: Commonly used and frequently muddled

Snowman, C. & Scheuerle, A., Jul 1 2009, In : American Journal of Medical Genetics, Part A. 149, 7, p. 1460-1462 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Re: fgfr2 mutations among thai children with crouzon and apert syndromes.

Scheuerle, A., Jan 2003, In : Journal of Craniofacial Surgery. 14, 1, 1 p.

Research output: Contribution to journalArticle

21 Scopus citations

Recent advances in craniofacial genetics

Scheuerle, A. E., Nov 1995, In : Journal of Craniofacial Surgery. 6, 6, p. 440-442 3 p.

Research output: Contribution to journalEditorial

6 Scopus citations

Replication banding and molecular studies of a mosaic, unbalanced dic(X;15)(Xpter→Xq26.1::15p11→15qter)

Scheuerle, A., Zenger-Hain, J. L., Van Dyke, D. L., Ledbetter, D. H., Greenberg, F. & Shaffer, L. G., Jan 1 1995, In : American Journal of Medical Genetics. 56, 4, p. 403-408 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Residential proximity to waste sites and industrial facilities and chromosomal anomalies in offspring

Brender, J. D., Zhan, F. B., Langlois, P. H., Suarez, L. & Scheuerle, A., Mar 12 2008, In : International Journal of Hygiene and Environmental Health. 211, 1-2, p. 50-58 9 p.

Research output: Contribution to journalArticle

25 Scopus citations

Response to Charlton et al.

Scheuerle, A., Vannappagari, V. X. & Miller, M. K., Sep 1 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 9, p. 809-810 2 p.

Research output: Contribution to journalLetter

Selected acculturation factors and birth defects in the National Birth Defects Prevention Study, 1997–2011

the National Birth Defects Prevention Study, Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

2 Scopus citations

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti Type 2

Parrish, J. E., Scheuerle, A. E., Lewis, R. A., Levy, M. L. & Nelson, D. L., Nov 1 1996, In : Human molecular genetics. 5, 11, p. 1777-1783 7 p.

Research output: Contribution to journalArticle

85 Scopus citations

Sex ratios in infants with congenital anomalies [4]

Waller, D. K., Keddie, A. M., Canfield, M. A. & Scheuerle, A. E., Aug 5 2002, In : Teratology. 66, 2, 1 p.

Research output: Contribution to journalLetter

Sociodemographic, health behavioral, and clinical risk factors for anotia/microtia in a population-based case-control study

National Birth Defects Prevention Study, Jul 2019, In : International Journal of Pediatric Otorhinolaryngology. 122, p. 18-26 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

Sociodemographic and hispanic acculturation factors and isolated anotia/microtia

National Birth Defects Prevention Study, Nov 1 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 11, p. 852-862 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

Some Intensification and Refining

Scheuerle, A. E., Jan 5 2017, (Accepted/In press) In : Journal of Craniofacial Surgery.

Research output: Contribution to journalArticle