Angela Scheuerle

  • 2022 Citations
  • 26 h-Index
1990 …2020

Research output per year

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Research Output

A case of Asian Indian OCA3 patient

Chiang, P. W., Spector, E. & Scheuerle, A., Jul 1 2009, In : American Journal of Medical Genetics, Part A. 149, 7, p. 1578-1580 3 p.

Research output: Contribution to journalLetter

14 Scopus citations

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

A defect by many other names

Scheuerle, A., Oct 15 1998, In : Journal of Craniofacial Surgery. 9, 5, p. 415-416 2 p.

Research output: Contribution to journalEditorial

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

A physician survey regarding diagnostic variability among birth defects

Langlois, P. H., Sheu, S. U. & Scheuerle, A. E., Jun 1 2010, In : American Journal of Medical Genetics, Part A. 152, 6, p. 1594-1598 5 p.

Research output: Contribution to journalLetter

6 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

Clarification of a diagnosis of IP [2] (multiple letters)

Roberts, J. L. & Scheuerle, A., Jan 1 1999, In : American Journal of Medical Genetics. 85, 4, 1 p.

Research output: Contribution to journalLetter

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

Clinical geneticists in birth defects surveillance and epidemiology research programs: Past, present and future roles

Lin, A. E., Rasmussen, S. A., Scheuerle, A. & Stevenson, R. E., Jan 1 2009, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 85, 1, p. 69-75 7 p.

Research output: Contribution to journalReview article

5 Scopus citations

Clinical review procedures for the Antiretroviral Pregnancy Registry

Scheuerle, A. & Covington, D., Aug 1 2004, In : Pharmacoepidemiology and Drug Safety. 13, 8, p. 529-536 8 p.

Research output: Contribution to journalReview article

11 Scopus citations
2 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

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

De novo mutation in three families with multigenerational incontinentia pigmenti [1]

Scheuerle, A., Lewis, R. A., Levy, M. L. & Nelson, D. L., Jan 1 1994, In : American Journal of Human Genetics. 55, 6, p. 1279-1281 3 p.

Research output: Contribution to journalLetter

2 Scopus citations

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

Diagnosis, counseling, and gender assignment [1]

Scheuerle, A., Dec 1 2007, In : Genetics in Medicine. 9, 12, 1 p.

Research output: Contribution to journalLetter

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

Ethics and craniofacial surgery

Scheuerle, A., Feb 5 2000, In : Journal of Craniofacial Surgery. 11, 1, p. 3-9 7 p.

Research output: Contribution to journalEditorial

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

Genetic origins of disease

Scheuerle, A., Jan 1 2001, In : Journal of Craniofacial Surgery. 12, 2, p. 105-108 4 p.

Research output: Contribution to journalEditorial