Genetics & Metabolism

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

Open Access

Cantu syndrome: A longitudinal review of vascular findings in three individuals

Parrott, A., Lombardo, R., Brown, N., Tretter, J. T., Riley, L. & Weaver, K. N., May 1 2020, In : American Journal of Medical Genetics, Part A. 182, 5, p. 1243-1248 6 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., Jan 1 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

Isolated Orotic Aciduria in an 11-Year-Old Boy

Vakili, H., Umaña, L. A. & Patel, K., Feb 1 2020, In : Clinical chemistry. 66, 2, p. 396-397 2 p.

Research output: Contribution to journalArticle

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
1 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

Reinterpretation of Chromosomal Microarrays with Detailed Medical History

Farooqi, M. S., Figueroa, S., Gotway, G., Wang, J., Luu, H. S. & Park, J. Y., Jan 1 2020, (Accepted/In press) In : Journal of Pediatrics.

Research output: Contribution to journalArticle

2019

A Jittery Newborn With an Abnormal Newborn Screen

Cooper, E. E., Szumlas, G. A., Lombardo, R. C. & Real, F. J., Oct 1 2019, In : Clinical Pediatrics. 58, 11-12, p. 1354-1356 3 p.

Research output: Contribution to journalArticle

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G. K., Lamb, A. N. & Andersen, E. F., Jan 1 2019, (Accepted/In press) In : Cytogenetic and Genome Research.

Research output: Contribution to journalArticle

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia

Aljeaid, D., Lombardo, R. C., Witte, D. P. & Hopkin, R. J., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1010-1014 5 p.

Research output: Contribution to journalArticle

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

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

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

Russell, B. E., Whaley, K. G., Bove, K. E., Labilloy, A., Lombardo, R. C., Hopkin, R. J., Leslie, N. D., Prada, C., Assouline, Z., Barcia, G., Bouchereau, J., Chomton, M., Debray, D., Dorboz, I., Durand, P., Gaignard, P., Habes, D., Jardel, C., Labarthe, F., Lévy, J. & 13 others, Lombès, A., Mehler-Jacob, C., Melki, J., Menvielle, L., Munnich, A., Mussini, C., Pichard, S., Rio, M., Rötig, A., Sissaoui, S., Slama, A., Miethke, A. G. & Schiff, M., Sep 1 2019, In : Hepatology. 70, 3, p. 1066-1070 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K. & 3 others, McNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In : Cell Reports. 27, 5, p. 1376-1386.e6

Research output: Contribution to journalArticle

Open Access
2 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
7 Scopus citations

Incontinentia pigmenti in adults

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

Research output: Contribution to journalArticle

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

Neonatal Lung Disease Associated with TBX4 Mutations

Suhrie, K., Pajor, N. M., Ahlfeld, S. K., Dawson, D. B., Dufendach, K. R., Kitzmiller, J. A., Leino, D., Lombardo, R. C., Smolarek, T. A., Rathbun, P. A., Whitsett, J. A., Towe, C. & Wikenheiser-Brokamp, K. A., Mar 2019, In : Journal of Pediatrics. 206, p. 286-292.e1

Research output: Contribution to journalArticle

11 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 1 2019, In : International Journal of Pediatric Otorhinolaryngology. 122, p. 18-26 9 p.

Research output: Contribution to journalArticle

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

8 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

9 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

29 Scopus citations
2017

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events

Hanchard, N. A., Umana, L. A., D'Alessandro, L., Azamian, M., Poopola, M., Morris, S. A., Fernbach, S., Lalani, S. R., Towbin, J. A., Zender, G. A., Fitzgerald-Butt, S., Garg, V., Bowman, J., Zapata, G., Hernandez, P., Arrington, C. B., Furthner, D., Prakash, S. K., Bowles, N. E., McBride, K. L. & 1 others, Belmont, J. W., Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2176-2188 13 p.

Research output: Contribution to journalArticle

7 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

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

Dai, H., Zhang, V. W., El-Hattab, A. W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., Mcnutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W. J. & Wong, L. J., Apr 1 2017, In : Clinical Genetics. 91, 4, p. 634-639 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

Translated title of the contribution: Clinical community genetics: Exploring genetic disorders in Boyacá, ColombiaVelasco, H. M., Martin, Á. M., Galvis, J., Buelvas, L., Sánchez, Y., Umaña, L. A. & Acosta, J., Jan 1 2017, In : Revista de Salud Publica. 19, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

Velasco, H. M., Sanchez, Y., Martin, A. M. & Umaña, L. A., 2017, In : Journal of Child Neurology. 32, 2, p. 177-183 7 p.

Research output: Contribution to journalReview article

6 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

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

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., Rosenfeld, J. A., Machol, K., Yang, Y., Liu, P., Walkiewicz, M., Beuten, J., Gomez-Ospina, N., Haude, K., Fong, C. T., Enns, G. M., Bernstein, J. A., Fan, J., Gotway, G., Ghorbani, M. & 7 others, van Gassen, K., Monroe, G. R., van Haaften, G., Basel-Vanagaite, L., Yang, X. J., Campeau, P. M. & Muenke, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 934-941 8 p.

Research output: Contribution to journalArticle

28 Scopus citations

Mandibulofacial dysostosis with microcephaly: Mutation and database update

Care4Rare Canada Consortium & UCLA Clinical Genomics Center, Jan 1 2016, In : Human mutation. 37, 2, p. 148-154 7 p.

Research output: Contribution to journalArticle

15 Scopus citations
7 Scopus citations

Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease

Pena, J. A., Lotze, T., Yang, Y., Umana, L. U. I. S., Walkiewicz, M., Hunter, J. V. & Scaglia, F., Feb 1 2016, In : Journal of Child Neurology. 31, 2, p. 215-219 5 p.

Research output: Contribution to journalArticle

3 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 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

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

Stender, S., Chakrabarti, R. S., Xing, C., Gotway, G., Cohen, J. C. & Hobbs, H. H., Sep 8 2015, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

17 Scopus citations

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Peddibhotla, S., Nagamani, S. C. S., Erez, A., Hunter, J. V., Holder, J. L., Carlin, M. E., Bader, P. I., Perras, H. M. F., Allanson, J. E., Newman, L., Simpson, G., Immken, L., Powell, E., Mohanty, A., Kang, S. H. L., Stankiewicz, P., Bacino, C. A., Bi, W., Patel, A. & Cheung, S. W., Jan 11 2015, In : European Journal of Human Genetics. 23, 1, p. 54-60 7 p.

Research output: Contribution to journalArticle

23 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

66 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