Genetics & Metabolism

Research output

Research output per year 1972 2009 2010 2011 2014 2015 2019 2020 2022 2023 2024

• 156 Article
• 13 Letter
• 9 Editorial
• 7 Review article
• 7 More
  • 6 Comment/debate
  • 1 Book

Research output per year

Research output per year

Search results

• 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

  • Choanal Atresia 100%
  • Pathologic Constriction 51%
  • Epidemiology 50%
  • Mothers 16%
  • Registries 10%
• 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 Access

  • Undiagnosed Diseases 100%
  • Data Analysis 48%
  • High-Throughput Nucleotide Sequencing 35%
  • Genes 22%
  • National Institutes of Health (U.S.) 9%
  1 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 Access

  • Hyperargininemia 100%
  • Hereditary Spastic Paraplegia 84%
  • Inborn Urea Cycle Disorder 19%
  • Lower Extremity 15%
  • Hispanic Americans 12%
  1 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 Access

  • Nervous System Diseases 100%
  • RNA 74%
  • Small Nuclear RNA 31%
  • Language Development Disorders 28%
  • Endonucleases 25%
  5 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

  • Inflammasomes 100%
  • Ribonucleases 93%
  • Brain Diseases 79%
  • Acute Febrile Encephalopathy 48%
  • Child 36%

• 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 Access

  • Family Relations 100%
  • Undiagnosed Diseases 52%
  • Child 34%
  • Parents 34%
  • Interviews 15%
  2 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 othersCrenshaw, M. M., Cuisset, L., Curry, C. J., Darvish, H., Demirdas, S., Descartes, M., Douglas, J., Dyment, D. A., Elloumi, H. Z., Ermondi, G., Faoucher, M., Farrow, E. G., Felker, S. A., Fisher, H., Hurst, A. C. E., Joset, P., Kelly, M. A., Kmoch, S., Leadem, B. R., Lyons, M. J., Macchiaiolo, M., Magner, M., Mandrile, G., Mattioli, F., McEown, M., Meadows, S. K., Medne, L., Meeks, N. J. L., Montgomery, S., Napier, M. P., Natowicz, M., Newberry, K. M., Niceta, M., Noskova, L., Nowak, C. B., Noyes, A. G., Osmond, M., Prijoles, E. J., Pugh, J., Pullano, V., Quélin, C., Rahimi-Aliabadi, S., Rauch, A., Redon, S., Reymond, A., Schwager, C. R., Sellars, E. A., Scheuerle, A. E., Shukarova-Angelovska, E., Skraban, C., Stolerman, E., Sullivan, B. R., Tartaglia, M., Thiffault, I., Uguen, K., Umaña, L. A., van Bever, Y., van der Crabben, S. N., van Slegtenhorst, M. A., Waisfisz, Q., Washington, C., Rodan, L. H., Myers, R. M. & Cooper, G. M., 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 Access

  • Neurodevelopmental Disorders 100%
  • Phenotype 51%
  • Chromatin Immunoprecipitation Sequencing 36%
  • Maternal Inheritance 36%
  • X Chromosome 32%
  2 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

  • 1-phosphatidylinositol-4-phosphate 5-kinase 100%
  • Phosphatidylinositols 64%
  • Phosphotransferases 46%
  • Neurodevelopmental Disorders 17%
  • Endosomes 16%

• 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 Access

  • myocardin 100%
  • Drosophila 59%
  • Transcription Factors 47%
  • Phenotype 38%
  • Diptera 27%
  2 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

  • monoethylglycinexylidide 100%
  • Epileptic Syndromes 74%
  • Microcephaly 70%
  • Serine 56%
  • Neutral Amino Acid Transport Systems 48%

• 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 Access

  • Heterogeneous-Nuclear Ribonucleoprotein Group C 100%
  • Haploinsufficiency 67%
  • Neurodevelopmental Disorders 61%
  • Alternative Splicing 57%
  • Intellectual Disability 49%
  2 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, 4

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Core Protein 100%
  • Oxidoreductases 70%
  • Electron Transport Complex III 43%
  • Hyperammonemia 41%
  • Lactic Acidosis 39%
  1 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

  • carglumic acid 100%
  • Glutamate Synthase 86%
  • Inborn Urea Cycle Disorder 75%
  • Hyperammonemia 64%
  • Carglumic Acid 55%

• 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 Access

  • Undiagnosed Diseases 100%
  • Focus Groups 82%
  • Pediatrics 18%
  • Caregivers 18%
  • Communication 10%
  2 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

  • Eswatini 100%
  • dolutegravir 96%
  • Neural Tube Defects 73%
  • Parturition 42%
  • HIV 42%

• 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

  • Solar Activity 100%
  • Protective 47%
  • Parturition 40%
  • Valve 20%
  • Anophthalmos 11%
• 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 Access

  • Cleft Lip 100%
  • Cleft Palate 95%
  • Registries 15%
  • Anophthalmos 14%
  • Craniofacial Abnormalities 14%
  6 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

  • Registries 100%
  • Heart 81%
  • Spine 81%
  • VACTERL association 71%
  • Spleen 49%
  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

  • Microarray Analysis 100%
  • Pediatrics 62%

• 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 othersByers, H. M., Scalco, F. B., Martinez, N. N., Sachdev, R., Smith, L., Poduri, A., Malone, S., Harris, R. V., Scheffer, I. E., Rosenzweig, S. D., Adams, D. R., Gahl, W. A., Malicdan, M. C. V., Raymond, K. M., Freeze, H. H. & Wolfe, L. A., Jul 5 2022, In: Journal of medical genetics. 59, 11, p. 1104-1115 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • glucosidase I 100%
  • Congenital Disorders of Glycosylation 86%
  • Molecular Biology 45%
  • Oligosaccharides 24%
  • Urine 23%
  4 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

  • Registries 100%
  • Neurocirculatory Asthenia 54%
  • Pyloric Stenosis 47%
  • Atrioventricular Septal Defect 46%
  • Population 12%
  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 othersCho, T., Muslimova, E., Weng, R., Rogoff, D., Hoover-Fong, J. & Irving, M., Mar 2022, In: Therapeutic Advances in Musculoskeletal Disease. 14

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Achondroplasia 100%
  • Child 29%
  • Receptor, Fibroblast Growth Factor, Type 3 23%
  • Helsinki Declaration 11%
  • Pharmacokinetics 11%
  13 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. 14

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Certolizumab Pegol 100%
  • Pharmacovigilance 80%
  • Chronic Disease 45%
  • Pregnancy 37%
  • Pregnancy Outcome 35%
  5 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 othersSedlazeck, F. J., Lupski, J. R., Carvalho, C. M. B. & Liu, P., Dec 2022, In: Genome Medicine. 14, 1, 122.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Phenotype 100%
  • DNA 92%
  • Genomic Instability 91%
  • Microarray Analysis 56%
  • Genome 56%
  3 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 Access

  • Homocysteinemia 100%
  • Methylmalonic acidemia 94%
  • Atypical Hemolytic Uremic Syndrome 92%
  • Methylmalonic Acid 70%
  • Vitamin B 12 68%
  6 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 Access

  • Anophthalmos 100%
  • Microphthalmos 90%
  • Registries 12%
  • Central Nervous System 11%
  • Child 7%
  3 Scopus citations

• 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 Access

  • Trisomy 13 Syndrome 100%
  • Live Birth 54%
  • Adams Oliver syndrome 30%
  • Holoprosencephaly 25%
  • Polydactyly 24%
  2 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.e8

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hypospadias 100%
  • Upper Extremity 23%
  • Hydrophthalmos 23%
  • Hereditary renal agenesis 19%
  • Male Genitalia 16%
  2 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

  • Craniosynostoses 100%
  • Black 69%
  • White 65%
  • Mothers 34%
  • Time 27%
  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

  • Williams Syndrome 100%
  • DiGeorge Syndrome 97%
  • Phenotype 42%
  • Retrognathia 26%
  • Dual (Psychiatry) Diagnosis 25%
• 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

  • Acculturation 100%
  • African Continental Ancestry Group 73%
  • Black 65%
  • Microtia-Anotia 36%
  • Mothers 35%
  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

  • Progeria 100%
  • Premature Aging 44%
  • Genetic Databases 43%
  • Whole Exome Sequencing 39%
  • Hair 32%
  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 Access

  • Epilepsy 100%
  • Cross-Sectional Studies 25%
  • Genes 23%
  • Datasets 15%
  • Health Care Outcome Assessment 12%
  5 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

  • Gastroschisis 100%
  • Umbilical Hernia 93%
  • Omphalocele exstrophy imperforate anus 22%
  • Spinal Dysraphism 14%
  • Abdominal Wall 12%
  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 Access

  • Exome 100%
  • Nucleotide 68%
  • Clinical Studies 57%
  • Genes 33%
  • Epilepsy 21%
  10 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

  • Error 100%
  • Pharmaceutical 97%
  • Clinical Trials 87%
  • Consent Forms 60%
  • Pharmaceutical Preparations 55%

• Health care supervision for children with Williams syndrome

  COUNCIL ON GENETICS EXECUTIVE COMMITTEE, Feb 1 2020, In: Pediatrics. 145, 2

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Williams Syndrome 100%
  • Delivery of Health Care 43%
  • Child 30%
  • Chromosomes, Human, Pair 7 30%
  • Multiplex Polymerase Chain Reaction 26%
  51 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 Access

  • Germ-Line Mutation 100%
  • Histones 83%
  • Neurodegenerative Diseases 76%
  • Post Translational Protein Processing 68%
  • Mutation 37%
  39 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-E22

  Research output: Contribution to journal › Article › peer-review

  Open Access
  6 Scopus citations

• 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 Access

  • Vesicle-Associated Membrane Protein 2 100%
  • Aminopyridines 90%
  • 4-Aminopyridine 82%
  • Synaptic Vesicles 44%
  • Mutation 35%
  10 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.e1

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Omalizumab 100%
  • Quebec 71%
  • Pregnancy Outcome 69%
  • Registries 54%
  • Pregnancy 41%
  88 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.e1

  Research output: Contribution to journal › Article › peer-review

  • Electronic Health Records 100%
  • Autism Spectrum Disorder 33%
  • Seizures 25%
  • Pediatrics 20%
  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

• 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

  • Intellectual Disability 100%
  • Single Nucleotide Polymorphism 59%
  • Chromosomes, Human, Pair 13 47%
  • Genes 42%
  • Gene Dosage 42%
  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

  • Agenesis of Cerebellar Vermis 100%
  • Orofaciodigital Syndrome X 51%
  • Endocrine System 51%
  • Pituitary Gland 46%
  • Orofaciodigital Syndromes 36%
  9 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 othersMian, 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 journal › Article › peer-review

  Open Access

  • Live Birth 100%
  • Child 41%
  • Population 37%
  • Neoplasms 30%
  • Registries 11%
  84 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 journal › Article › peer-review

  Open Access

  • Registries 100%
  • Application 39%
  • Spinal Dysraphism 26%
  • Datasets 25%
  • Time 22%
  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 othersScheuerle, 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 journal › Article › peer-review

  Open Access

  • Cakut 100%
  • Intellectual Disability 56%
  • Genitalia 55%
  • Nephrons 27%
  • Xenopus 25%
  16 Scopus citations

• 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 othersLombès, 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 journal › Article › peer-review
  14 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 othersMcNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In: Cell Reports. 27, 5, p. 1376-1386.e6

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Inborn Errors Metabolism 100%
  • 2-Hydroxyglutaricaciduria 93%
  • Metabolomics 85%
  • Genomics 78%
  • Lipoylation 73%
  47 Scopus citations