Angela Scheuerle

  • 2022 Citations
  • 26 h-Index
1990 …2020

Research output per year

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Research Output

Article

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

Adrenal crisis in the newborn: Details leading to the correct diagnosis

Vogiatzi, M. G., Gunn, S. K., Scheuerle, A. E., McCabe, E. R. B. & Copeland, K. C., Apr 1995, In : Journal of Clinical Endocrinology and Metabolism. 80, 4, p. 1079-1082 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

Alcohol consumption by women before and during pregnancy

Ethen, M. K., Ramadhani, T. A., Scheuerle, A. E., Canfield, M. A., Wyszynski, D. F., Druschel, C. M. & Romitti, P. A., Jan 1 2009, In : Maternal and Child Health Journal. 13, 2, p. 274-285 12 p.

Research output: Contribution to journalArticle

198 Scopus citations

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

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

Antiepileptic drug exposure and major congenital malformations: The role of pregnancy registries

Tomson, T., Battino, D., French, J., Harden, C., Holmes, L., Morrow, J., Robert-Gnansia, E., Scheuerle, A., Vajda, F., Wide, K. & Gordon, J., Nov 1 2007, In : Epilepsy and Behavior. 11, 3, p. 277-282 6 p.

Research output: Contribution to journalArticle

37 Scopus citations

Are birth defects among hispanics related to maternal nativity or number of years lived in the United States?

Ramadhani, T., Short, V., Canfield, M. A., Waller, D. K., Correa, A., Royle, M. & Scheuerle, A., Sep 1 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 9, p. 755-763 9 p.

Research output: Contribution to journalArticle

20 Scopus citations

Arginase deficiency presenting as cerebral palsy

Scheuerle, A. E., McVie, R., Beaudet, A. L. & Shapira, S. K., Jan 1 1993, In : Pediatrics. 91, 5 I, p. 995-996 2 p.

Research output: Contribution to journalArticle

17 Scopus citations

Assessing the risk of birth defects associated with antiretroviral exposure during pregnancy

Heather Watts, D., Covington, D. L., Beckerman, K., Garcia, P., Scheuerle, A., Dominguez, K., Ross, B., Sacks, S., Chavers, S. & Tilson, H., Sep 1 2004, In : American journal of obstetrics and gynecology. 191, 3, p. 985-992 8 p.

Research output: Contribution to journalArticle

46 Scopus citations

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

9 Scopus citations

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

Association of microtia with maternal obesity and periconceptional folic acid use

Ma, C., Carmichael, S. L., Scheuerle, A. E., Canfield, M. A. & Shaw, G. M., Nov 1 2010, In : American Journal of Medical Genetics, Part A. 152, 11, p. 2756-2761 6 p.

Research output: Contribution to journalArticle

19 Scopus citations
47 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

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

Birth defects and military service since 1990

Langlois, P. H., Ramadhani, T. A., Royle, M. H., Robbins, J. M., Scheuerle, A. E. & Wyszynski, D. F., Feb 2009, In : Military Medicine. 174, 2, p. 170-176 7 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
7 Scopus citations

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., Jan 1 2020, In : Clinical chemistry. 66, 1, p. 199-206 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Complete trisomy 1q with mosaic Y;1 translocation: A recurrent aneuploidy presenting diagnostic dilemmas

Scheuerle, A., Heller, K. & Elder, F., Oct 1 2005, In : American Journal of Medical Genetics. 138 A, 2, p. 166-170 5 p.

Research output: Contribution to journalArticle

14 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

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

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

67 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

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

Descriptive epidemiology of selected heritable birth defects in Texas

Moffitt, K. B., Abiri, O. O., Scheuerle, A. E. & Langlois, P. H., Dec 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 12, p. 990-994 5 p.

Research output: Contribution to journalArticle

5 Scopus citations

Distinctive genetic and clinical features of CMT4J: A severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Nicholson, G., Lenk, G. M., Reddel, S. W., Grant, A. E., Towne, C. F., Ferguson, C. J., Simpson, E., Scheuerle, A., Yasick, M., Hoffman, S., Blouin, R., Brandt, C., Coppola, G., Biesecker, L. G., Batish, S. D. & Meisler, M. H., Jul 2011, In : Brain. 134, 7, p. 1959-1971 13 p.

Research output: Contribution to journalArticle

69 Scopus citations

Do foreign- and U.S.-born mothers across racial/ethnic groups have a similar risk profile for selected sociodemographic and periconceptional factors?

Ramadhani, T. A., Canfield, M. A., Farag, N. H., Royle, M., Correa, A., Waller, D. K. & Scheuerle, A., Sep 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 9, p. 823-830 8 p.

Research output: Contribution to journalArticle

7 Scopus citations

Do infants with major congenital anomalies have an excess of macrosomia?

Waller, D. K., Keddie, A. M., Canfield, M. A. & Scheuerle, A. E., Dec 13 2001, In : Teratology. 64, 6, p. 311-317 7 p.

Research output: Contribution to journalArticle

12 Scopus citations

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

Dysmorphic features in patients with complex glycerol kinase deficiency

Scheuerle, A., Greenberg, F. & McCabe, E. R. B., May 1995, In : The Journal of Pediatrics. 126, 5, p. 764-767 4 p.

Research output: Contribution to journalArticle

19 Scopus citations

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

Epidemiologic features and clinical subgroups of anotia/microtia in Texas

Canfield, M. A., Langlois, P. H., Nguyen, L. M. & Scheuerle, A. E., Nov 1 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 11, p. 905-913 9 p.

Research output: Contribution to journalArticle

52 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

8 Scopus citations

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

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

30 Scopus citations

Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995

Waller, D. K., Pujazon, M. A., Canfield, M. A., Scheuerle, A. E. & Byrne, J. L. B., Jan 1 2000, In : Fetal Diagnosis and Therapy. 15, 6, p. 348-354 7 p.

Research output: Contribution to journalArticle

33 Scopus citations

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

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

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

62 Scopus citations

Incontinentia pigmenti in adults

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

Research output: Contribution to journalArticle

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

50 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., 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., Jan 1 2019, In : Birth Defects Research.

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., Jan 1 2014, In : Human molecular genetics. 23, 11, p. 2888-2900 13 p., ddu002.

Research output: Contribution to journalArticle

73 Scopus citations