Angela Scheuerle

  • 2058 Citations
  • 26 h-Index
1990 …2020

Research output per year

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Research Output

2020

Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case–control study

the National Birth Defects Prevention Study, Apr 15 2020, In : Birth Defects Research. 112, 7, p. 535-554 20 p.

Research output: Contribution to journalArticle

Clinical exome studies have inconsistent coverage

Gotway, G., Crossley, E., Kozlitina, J., Xing, C., Fan, J., Hornbuckle, C., Thies, J., Michel, D., Quinn, C., Scheuerle, A. E., Umana, L. A., Uhles, C. L. & Park, J. Y., 2020, In : Clinical chemistry. 66, 1, p. 199-206 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, 12, (2755-2764), 10.1038/s41436-019-0576-0)

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Al-Gazali, L., Shamsi, A. M. S. M. A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Apr 1 2020, In : Genetics in Medicine. 22, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial

Scheuerle, A. E., Kwon, P. & Joing, M., Jan 1 2020, In : Birth Defects Research. 112, 1, p. 118-121 4 p.

Research output: Contribution to journalArticle

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

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

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
2019

Association between Birth Defects and Cancer Risk among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births

Lupo, P. J., Schraw, J. M., Desrosiers, T. A., Nembhard, W. N., Langlois, P. H., Canfield, M. A., Copeland, G., Meyer, R. E., Brown, A. L., Chambers, T. M., Sok, P., Danysh, H. E., Carozza, S. E., Sisoudiya, S. D., Hilsenbeck, S. G., Janitz, A. E., Oster, M. E., Scheuerle, A. E., Schiffman, J. D., Luo, C. & 6 others, Mian, A., Mueller, B. A., Huff, C. D., Rasmussen, S. A., Scheurer, M. E. & Plon, S. E., Aug 2019, In : JAMA Oncology. 5, 8, p. 1150-1158 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries

Benjamin, R. H., Yu, X., Navarro Sanchez, M. L., Chen, H., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Swartz, M. D., Scheuerle, A. E., Scott, D. A., Northrup, H., Schaaf, C. P., Ray, J. W., McLean, S. D., Lupo, P. J. & Agopian, A. J., Nov 1 2019, In : Birth Defects Research. 111, 18, p. 1356-1364 9 p.

Research output: Contribution to journalArticle

Open Access

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Blackburn, A. T. M., Bekheirnia, N., Uma, V. C., Corkins, M. E., Xu, Y., Rosenfeld, J. A., Bainbridge, M. N., Yang, Y., Liu, P., Madan-Khetarpal, S., Delgado, M. R., Hudgins, L., Krantz, I., Rodriguez-Buritica, D., Wheeler, P. G., Gazali, L. A., Mohamed Saeed Mohamed Al Shamsi, A., Gomez-Ospina, N., Chao, H. T., Mirzaa, G. M. & 9 others, Scheuerle, A. E., Kukolich, M. K., Scaglia, F., Eng, C., Willsey, H. R., Braun, M. C., Lamb, D. J., Miller, R. K. & Bekheirnia, M. R., Dec 1 2019, In : Genetics in Medicine. 21, 12, p. 2755-2764 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

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

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

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

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

Temporal trends in diagnoses of congenital microcephaly, Texas Hospital Discharge Diagnoses, 2000–2015

Waller, D. K., Tark, J. Y., Agopian, A. J., Shewale, J., Ganduglia-Cazaban, C., Hoyt, A. T., Scheuerle, A. & Langlois, P. H., Jan 1 2019, In : Birth Defects Research.

Research output: Contribution to journalArticle

2018

An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss-of-function mutation in ADAMTS3

Scheuerle, A., Sweed, N. T., Timmons, C. F., Smith, E. D., Alcaraz, W. A. & Shinde, D. N., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

3 Scopus citations

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Wooderchak-Donahue, W. L., Johnson, P., McDonald, J., Blei, F., Berenstein, A., Sorscher, M., Mayer, J., Scheuerle, A. E., Lewis, T., Grimmer, J. F., Richter, G. T., Steeves, M. A., Lin, A. E., Stevenson, D. A. & Bayrak-Toydemir, P., Jun 11 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-16 16 p.

Research output: Contribution to journalArticle

9 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

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
2017

Enamel pit defects and taurodontism in a patient with ring chromosome 14 and 47,XXX

Townsend, J. A., Lacour, L. & Scheuerle, A. E., Jan 1 2017, In : Journal of Dentistry for Children. 84, 1, p. 39-43 5 p.

Research output: Contribution to journalArticle

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

Some Intensification and Refining

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

Research output: Contribution to journalArticle

2016
4 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

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

Update: Interim guidance for the evaluation and management of infants with possible congenital Zika virus infection — United States, August 2016

Extended Voting Group & Sanchez, P., Aug 26 2016, In : Morbidity and Mortality Weekly Report. 65, 33, p. 870-878 9 p.

Research output: Contribution to journalArticle

Open Access
90 Scopus citations
2015

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Chong, J. X., McMillin, M. J., Shively, K. M., Beck, A. E., Marvin, C. T., Armenteros, J. R., Buckingham, K. J., Nkinsi, N. T., Boyle, E. A., Berry, M. N., Bocian, M., Foulds, N., Uzielli, M. L. G., Haldeman-Englert, C., Hennekam, R. C. M., Kaplan, P., Kline, A. D., Mercer, C. L., Nowaczyk, M. J. M., Klein Wassink-Ruiter, J. S. & 13 others, McPherson, E. W., Moreno, R. A., Scheuerle, A. E., Shashi, V., Stevens, C. A., Carey, J. C., Monteil, A., Lory, P., Tabor, H. K., Smith, J. D., Shendure, J., Nickerson, D. A. & Bamshad, M. J., Mar 5 2015, In : American Journal of Human Genetics. 96, 3, p. 462-473 12 p.

Research output: Contribution to journalArticle

69 Scopus citations

Descriptive Epidemiology of Birth Defects Thought to Arise by New Mutation

Langlois, P. H. & Scheuerle, A. E., Nov 1 2015, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 103, 11, p. 913-927 15 p.

Research output: Contribution to journalArticle

Expanding the Molecular and Clinical Phenotype of SSR4-CDG

University of Washington Center for Mendelian Genomics, Nov 2015, In : Human mutation. 36, 11, p. 1048-1051 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

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
42 Scopus citations

The Xolair Pregnancy Registry (EXPECT): The safety of omalizumab use during pregnancy

Namazy, J., Cabana, M. D., Scheuerle, A. E., Thorp, J. M., Chen, H., Carrigan, G., Wang, Y., Veith, J. & Andrews, E. B., Feb 1 2015, In : Journal of Allergy and Clinical Immunology. 135, 2, p. 407-412 6 p.

Research output: Contribution to journalArticle

94 Scopus citations
2014

A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

Langlois, P. H., Moffitt, K. B. & Scheuerle, A. E., Sep 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2187-2199 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Birth Defects, Causal Attributions, and Ethnicity in the National Birth Defects Prevention Study

Case, A. P., Royle, M., Scheuerle, A. E., Carmichael, S. L., Moffitt, K. & Ramadhani, T., Oct 1 2014, In : Journal of Genetic Counseling. 23, 5, p. 860-873 14 p.

Research output: Contribution to journalArticle

3 Scopus citations

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

Xia, F., Bainbridge, M. N., Tan, T. Y., Wangler, M. F., Scheuerle, A. E., Zackai, E. H., Harr, M. H., Sutton, V. R., Nalam, R. L., Zhu, W., Nash, M., Ryan, M. M., Yaplito-Lee, J., Hunter, J. V., Deardorff, M. A., Penney, S. J., Beaudet, A. L., Plon, S. E., Boerwinkle, E. A., Lupski, J. R. & 4 others, Eng, C. M., Muzny, D. M., Yang, Y. & Gibbs, R. A., May 1 2014, In : American Journal of Human Genetics. 94, 5, p. 784-789 6 p.

Research output: Contribution to journalArticle

29 Scopus citations

Final results from the Betaseron (interferon β-1b) Pregnancy Registry: A prospective observational study of birth defects and pregnancy-related adverse events

Coyle, P. K., Sinclair, S. M., Scheuerle, A. E., Thorp, J. M., Albano, J. D. & Rametta, M. J., 2014, In : BMJ Open. 4, 5, e004536.

Research output: Contribution to journalArticle

31 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

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

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

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

The childless man

Scheuerle, A. E., Picconi, J. L., Neidich, J., Panny, S., Plecher, B. A., Randolph, L. M., Trapane, P. & Trotter, T. L., Feb 1 2014, In : American Journal of Medical Genetics, Part A. 164, 2, 1 p.

Research output: Contribution to journalArticle

2012

Association of microtia with maternal nutrition

Ma, C., Shaw, G. M., Scheuerle, A. E., Canfield, M. A. & Carmichael, S. L., Dec 1 2012, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 94, 12, p. 1026-1032 7 p.

Research output: Contribution to journalArticle

6 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

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
2011

Birth defects among a cohort of infants born to HIV-infected women on antiretroviral medication

Watts, D. H., Huang, S., Culnane, M., Kaiser, K. A., Scheuerle, A., Mofenson, L., Stanley, K., Newell, M. L., Mandelbrot, L., Delfraissy, J. F. & Cunningham, C. K., Mar 1 2011, In : Journal of Perinatal Medicine. 39, 2, p. 163-170 8 p.

Research output: Contribution to journalArticle

29 Scopus citations
7 Scopus citations