Research output per year
Research output per year
- 1 - 50 out of 192 results
Search results
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2024
Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999–2018
Benjamin, R. H., Marengo, L. K., Scheuerle, A. E., Agopian, A. J. & Mitchell, L. E., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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2023
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network
Undiagnosed Diseases Network & Undiagnosed Diseases Network, Apr 2023, In: Genetics in Medicine. 25, 4, 100353.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
McNutt, M. C., Foreman, N. & Gotway, G., Jan 2023, In: Movement Disorders Clinical Practice. 10, 1, p. 109-114 6 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Undiagnosed Diseases Network, May 4 2023, In: American Journal of Human Genetics. 110, 5, p. 774-789 16 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Undiagnosed Diseases Network, Sep 2023, In: Genetics in Medicine. 25, 9, 100897.Research output: Contribution to journal › Article › peer-review
Open Access -
Continuing a search for a diagnosis: the impact of adolescence and family dynamics
Undiagnosed Disease Network, Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 6.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., Bartuli, A., Benech, C., Berkowitz, J. L., Betti, M. J., Brusco, A., Cannon, A., Caron, G., Chen, Y., Cochran, M. E., Coleman, T. F., & 64 others, Feb 2 2023, In: American Journal of Human Genetics. 110, 2, p. 215-227 13 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Undiagnosed Diseases Network & Telethon Undiagnosed Diseases Program, Aug 3 2023, In: American Journal of Human Genetics. 110, 8, p. 1377-1393 17 p.Research output: Contribution to journal › Article › peer-review
Open Access -
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
Undiagnosed Diseases Network, Jun 2023, In: Genetics in Medicine. 25, 6, 100833.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Jun 2023, In: Annals of Clinical and Translational Neurology. 10, 6, p. 1046-1053 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
Genomics England Research Consortium & Undiagnosed Diseases Network, Aug 3 2023, In: American Journal of Human Genetics. 110, 8, p. 1414-1435 22 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment
Haidar, L. A., Harris, R. C., Pachnis, P., Chen, H., Gotway, G. K., Ni, M. & DeBerardinis, R. J., 2023, In: Cold Spring Harbor Molecular Case Studies. 9, 4Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management
Abou Haidar, L., Pachnis, P., Gotway, G. K., Ni, M., DeBerardinis, R. J. & McNutt, M. C., Nov 2023, In: JIMD Reports. 64, 6, p. 403-409 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Participation in a national diagnostic research study: assessing the patient experience
The Undiagnosed Diseases Network, Dec 2023, In: Orphanet Journal of Rare Diseases. 18, 1, 73.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini
Gill, M. M., Khumalo, P., Chouraya, C., Kunene, M., Dlamini, F., Hoffman, H. J., Scheuerle, A. E., Nhlabatsi, B., Mngometulu, W., Dlamini-Madlopha, N., Mthunzi, N. & Mofenson, L., Sep 1 2023, In: Open Forum Infectious Diseases. 10, 9, ofad441.Research output: Contribution to journal › Article › peer-review
Open Access -
Sunspot activity and birth defects among Texas births (1999–2016)
Hoyt, A. T., Shumate, C. J., Langlois, P. H., Waller, D. K., Scheuerle, A. E., Ranjit, N. & Layne, C. S., Jul 1 2023, In: Birth Defects Research. 115, 12, p. 1120-1139 20 p.Research output: Contribution to journal › Article › peer-review
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2022
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate
Sanchez, M. L. N., Benjamin, R. 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., Chen, H., Lupo, P. J. & Agopian, A. J., Apr 2022, In: Cleft Palate-Craniofacial Journal. 59, 4, p. 417-426 10 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Birth defect co-occurrence patterns in the Texas Birth Defects Registry
Benjamin, R. H., Scheuerle, A. E., Scott, D. A., Navarro Sanchez, M. L., Langlois, P. H., Canfield, M. A., Northrup, H., Schaaf, C. P., Ray, J. W., McLean, S. D., Chen, H., Swartz, M. D., Lupo, P. J. & Agopian, A. J., Apr 2022, In: Pediatric Research. 91, 5, p. 1278-1285 8 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice
Shi, G., Xu, J., Barnes, S. F., Farooqi, M. S., Luu, H. S., Gotway, G. & Park, J. Y., Apr 2022, In: Journal of Pediatrics. 243, p. 219-223 5 p.Research output: Contribution to journal › Article › peer-review
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shimada, S., Ng, B. G., White, A. L., Nickander, K. K., Turgeon, C., Liedtke, K. L., Lam, C. T., Font-Montgomery, E., Lourenco, C. M., He, M., Peck, D. S., Umana, L. A., Uhles, C. L., Haynes, D., Wheeler, P. G., Bamshad, M. J., Nickerson, D. A., Cushing, T., Gates, R., Gomez-Ospina, N., & 16 others, Jul 5 2022, In: Journal of medical genetics. 59, 11, p. 1104-1115 12 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact
Benjamin, R. H., Mitchell, L. E., Scheuerle, A. E., Langlois, P. H., Canfield, M. A., Drummond-Borg, M., Nguyen, J. M. & Agopian, A. J., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Savarirayan, R., De Bergua, J. M., Arundel, P., McDevitt, H., Cormier-Daire, V., Saraff, V., Skae, M., Delgado, B., Leiva-Gea, A., Santos-Simarro, F., Salles, J. P., Nicolino, M., Rossi, M., Kannu, P., Bober, M. B., Phillips, J., Saal, H., Harmatz, P., Burren, C., Gotway, G., & 6 others, Mar 2022, In: Therapeutic Advances in Musculoskeletal Disease. 14Research output: Contribution to journal › Article › peer-review
Open Access13 Scopus citations -
Pharmacovigilance pregnancy data in a large population of patients with chronic inflammatory disease exposed to certolizumab pegol
Clowse, M., Fischer-Betz, R., Nelson-Piercy, C., Scheuerle, A. E., Stephan, B., Dubinsky, M., Kumke, T., Kasliwal, R., Lauwerys, B. & Förger, F., Apr 2022, In: Therapeutic Advances in Musculoskeletal Disease. 14Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
Du, H., Jolly, A., Grochowski, C. M., Yuan, B., Dawood, M., Jhangiani, S. N., Li, H., Muzny, D., Fatih, J. M., Coban-Akdemir, Z., Carlin, M. E., Scheuerle, A. E., Witzl, K., Posey, J. E., Pendleton, M., Harrington, E., Juul, S., Hastings, P. J., Bi, W., Gibbs, R. A., & 4 others, Dec 2022, In: Genome Medicine. 14, 1, 122.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
Wood, W. D., Elmaghrabi, A., Gotway, G. & Wolf, M. T. F., Jun 2022, In: Pediatric Nephrology. 37, 6, p. 1415-1418 4 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Update on glycogen storage disease: primary hepatic involvement
Wright, T. L. F., Umaña, L. A. & Ramirez, C. M., Oct 1 2022, In: Current opinion in pediatrics. 34, 5, p. 496-502 7 p.Research output: Contribution to journal › Review article › peer-review
7 Scopus citations -
2021
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia
Schraw, J. M., Benjamin, R. H., Scott, D. A., Brooks, B. P., Hufnagel, R. B., McLean, S. D., Northrup, H., Langlois, P. H., Canfield, M. A., Scheuerle, A. E., Schaaf, C. P., Ray, J. W., Chen, H., Swartz, M. D., Mitchell, L. E., Agopian, A. J. & Lupo, P. J., 2021, In: Ophthalmic Epidemiology. 28, 5, p. 428-435 8 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Asymmetric faces: Symbolic, spiritual, and representative
Scheuerle, A. E. & Firth, R. M., Jun 2021, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 187, 2, p. 278-282 5 p.Research output: Contribution to journal › Review article › peer-review
3 Scopus citations -
Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1–64.e8](S1477513120306392)(10.1016/j.jpurol.2020.11.015)
Ludorf, K. L., Benjamin, R. H., Navarro Sanchez, M. L., McLean, S. D., Northrup, H., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Scheuerle, A. E., Scott, D. A., Schaaf, C. P., Ray, J. W., Oluwafemi, O., Chen, H., Swartz, M. D., Lupo, P. J. & Agopian, A. J., Aug 2021, In: Journal of Pediatric Urology. 17, 4, p. e1Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Patterns of congenital anomalies among individuals with trisomy 13 in Texas
Diaz, D., Benjamin, R. H., Navarro Sanchez, M. L., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Chen, H., Scheuerle, A. E., Schaaf, C. P., Scott, D. A., Northrup, H., Ray, J. W., McLean, S. D., Swartz, M. D., Ludorf, K. L., Lupo, P. J. & Agopian, A. J., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1787-1793 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Patterns of co-occurring birth defects among infants with hypospadias
Ludorf, K. L., Benjamin, R. H., Navarro Sanchez, M. L., McLean, S. D., Northrup, H., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Scheuerle, A. E., Scott, D. A., Schaaf, C. P., Ray, J. W., Oluwafemi, O., Chen, H., Swartz, M. D., Lupo, P. J. & Agopian, A. J., Feb 2021, In: Journal of Pediatric Urology. 17, 1, p. 64.e1-64.e8Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Risk factors and time trends for isolated craniosynostosis
Schraw, J. M., Woodhouse, J. P., Langlois, P. H., Canfield, M. A., Scheuerle, A. E., Agopian, A. J., Benjamin, R. H. & Lupo, P. J., Jan 1 2021, In: Birth Defects Research. 113, 1, p. 43-54 12 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome
Uhles, C. L., Barnes, S., Uddin, N. & Umaña, L. A., Dec 2021, In: American Journal of Medical Genetics, Part A. 185, 12, p. 3821-3824 4 p.Research output: Contribution to journal › Article › peer-review
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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 journal › Article › peer-review
2 Scopus citations -
An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood
Fisher, H. G., Patni, N. & Scheuerle, A. E., Oct 1 2020, In: American Journal of Medical Genetics, Part A. 182, 10, p. 2399-2402 4 p.Research output: Contribution to journal › Article › peer-review
7 Scopus citations -
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients with Epilepsy
Sorelle, J. A., Pascual, J. M., Gotway, G. & Park, J. Y., Apr 29 2020, In: JAMA Network Open. 3, 4, e203812.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele
Oluwafemi, O. O., Benjamin, R. H., Navarro Sanchez, M. L., Scheuerle, A. E., Schaaf, C. P., Mitchell, L. E., Langlois, P. H., Canfield, M. A., Swartz, M. D., Scott, D. A., Northrup, H., Ray, J. W., McLean, S. D., Ludorf, K. L., Chen, H., Lupo, P. J. & Agopian, A. J., Nov 1 2020, In: American Journal of Medical Genetics, Part A. 182, 11, p. 2581-2593 13 p.Research output: Contribution to journal › Article › peer-review
10 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 journal › Article › peer-review
Open Access10 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, Apr 1 2020, In: Genetics in Medicine. 22, 4, p. 821 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access1 Scopus citations -
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 journal › Article › peer-review
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Health care supervision for children with Williams syndrome
COUNCIL ON GENETICS EXECUTIVE COMMITTEE, Feb 1 2020, In: Pediatrics. 145, 2Research output: Contribution to journal › Article › peer-review
Open Access51 Scopus citations -
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network, Dec 2 2020, In: Science Advances. 6, 49, eabc9207.Research output: Contribution to journal › Article › peer-review
Open Access37 Scopus citations -
Homozygous NEK8 Mutations in Siblings with Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease
Hassan, S., Wolf, M. T. F., Umaña, L. A., Malik, S., Uddin, N., Andersen, J. & Aqul, A., Jan 1 2020, In: Journal of pediatric gastroenterology and nutrition. 70, 1, p. E19-E22Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
Isolated Orotic Aciduria in an 11-Year-Old Boy
Vakili, H., Umaña, L. A. & Patel, K., Feb 2020, In: Clinical chemistry. 66, 2, p. 396-397 2 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment
Simmons, R. L., Li, H., Alten, B., Santos, M. S., Jiang, R., Paul, B., Lalani, S. J., Cortesi, A., Parks, K., Khandelwal, N., Smith-Packard, B., Phoong, M. A., Chez, M., Fisher, H., Scheuerle, A. E., Shinawi, M., Hussain, S. A., Kavalali, E. T., Sherr, E. H. & Voglmaier, S. M., Nov 1 2020, In: Human mutation. 41, 11, p. 1999-2011 13 p.Research output: Contribution to journal › Article › peer-review
Open Access10 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.e1Research output: Contribution to journal › Article › peer-review
Open Access88 Scopus citations -
Reinterpretation of Chromosomal Microarrays with Detailed Medical History
Farooqi, M. S., Figueroa, S., Gotway, G., Wang, J., Luu, H. S. & Park, J. Y., Jul 2020, In: Journal of Pediatrics. 222, p. 180-185.e1Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
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 journal › Article › peer-review
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A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay
Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G., Lamb, A. N. & Andersen, E. F., Nov 1 2019, In: Cytogenetic and Genome Research. 159, 1, p. 19-25 7 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
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 journal › Article › peer-review
9 Scopus citations