Sarah Morton

Publications

1. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
2. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025 Jan 14; 104(1):e210106. View Abstract
3. A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases. Pediatr Infect Dis J. 2024 Dec 18. View Abstract
4. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
5. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
6. Detection of neurologic changes in critically ill infants using deep learning on video data: a retrospective single center cohort study. EClinicalMedicine. 2024 Dec; 78:102919. View Abstract
7. Placental-Heart Axis: An Evolutionary Perspective. Int J Mol Sci. 2024 Oct 18; 25(20). View Abstract
8. Lifespan health with congenital heart disease: Considering cancer-associated mortality. Pediatr Blood Cancer. 2024 Dec; 71(12):e31349. View Abstract
9. Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease. Prenat Diagn. 2024 Aug 30. View Abstract
10. Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease. J Thorac Cardiovasc Surg. 2025 Feb; 169(2):366-374. View Abstract
11. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 Aug 15; 297:120721. View Abstract
12. Accurate prediction of neurologic changes in critically ill infants using pose AI. medRxiv. 2024 Jun 10. View Abstract
13. Meta-regression of sulcal patterns, clinical and environmental factors on neurodevelopmental outcomes in participants with multiple CHD types. Cereb Cortex. 2024 06 04; 34(6). View Abstract
14. Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes. J Clin Invest. 2024 Jun 03; 134(11). View Abstract
15. The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease. J Cardiovasc Dev Dis. 2024 May 30; 11(6). View Abstract
16. Preliminary report of a thoracic duct-to-pulmonary vein lymphovenous anastomosis in swine: A novel technique and potential treatment for lymphatic failure. Semin Pediatr Surg. 2024 Jun; 33(3):151427. View Abstract
17. Who Still Gets Ligated? Reasons for Persistence of Surgical Ligation of the Patent Ductus Arteriosus Following Availability of Transcatheter Device Occlusion for Premature Neonates. J Cardiovasc Dev Dis. 2024 Apr 23; 11(5). View Abstract
18. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024 Aug; 44(8):1196-1202. View Abstract
19. A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation. Nat Cardiovasc Res. 2024 03; 3(3):317-331. View Abstract
20. Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease. Nat Genet. 2024 Mar; 56(3):420-430. View Abstract
21. Genetics and etiology of congenital heart disease. Curr Top Dev Biol. 2024; 156:297-331. View Abstract
22. Association of genetic and sulcal traits with executive function in congenital heart disease. Ann Clin Transl Neurol. 2024 02; 11(2):278-290. View Abstract
23. Establishing a neonatology consultation program: extending care beyond the neonatal intensive care unit. J Perinatol. 2024 Mar; 44(3):458-463. View Abstract
24. Pediatric Intubations in a Semiurban Helicopter Emergency Medicine Service: A Retrospective Review. Air Med J. 2024 Mar-Apr; 43(2):106-110. View Abstract
25. Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot. Front Cardiovasc Med. 2023; 10:1249605. View Abstract
26. Human Paenibacillus Infections: A Systematic Review with Comparison of Adult and Infant Cases. medRxiv. 2023 Sep 20. View Abstract
27. Neonatal Paenibacilliosis: Paenibacillus Infection as a Novel Cause of Sepsis in Term Neonates With High Risk of Sequelae in Uganda. Clin Infect Dis. 2023 09 11; 77(5):768-775. View Abstract
28. Association of cerebral metabolic rate following therapeutic hypothermia with 18-month neurodevelopmental outcomes after neonatal hypoxic ischemic encephalopathy. EBioMedicine. 2023 Aug; 94:104673. View Abstract
29. Exploring the Therapeutic Potential of Phosphorylated Cis-Tau Antibody in a Pig Model of Traumatic Brain Injury. Biomedicines. 2023 Jun 24; 11(7). View Abstract
30. Paenibacillus spp infection among infants with postinfectious hydrocephalus in Uganda: an observational case-control study. Lancet Microbe. 2023 08; 4(8):e601-e611. View Abstract
31. Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization. J Perinatol. 2023 07; 43(7):958-962. View Abstract
32. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 06; 16(3):224-231. View Abstract
33. Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases. Transl Pediatr. 2023 May 30; 12(5):1028-1040. View Abstract
34. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. Circ Genom Precis Med. 2023 04; 16(2):e003791. View Abstract
35. Pushing Yourself to the Maximum: What Do Prehospital Interventions Do to the Heart Rates of the Prehospital Team Involved? A Case Report. Air Med J. 2023 May-Jun; 42(3):210-212. View Abstract
36. Tethered cord syndrome in KBG syndrome. Am J Med Genet A. 2023 05; 191(5):1222-1226. View Abstract
37. Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease. JAMA Netw Open. 2023 01 03; 6(1):e2253191. View Abstract
38. Type IV Pili Are a Critical Virulence Factor in Clinical Isolates of Paenibacillus thiaminolyticus. mBio. 2022 12 20; 13(6):e0268822. View Abstract
39. The Genetics of Neurodevelopment in Congenital Heart Disease. Can J Cardiol. 2023 02; 39(2):97-114. View Abstract
40. Fetal Disseminated Malignant Rhabdoid Tumor. Neoreviews. 2022 08 01; 23(8):e595-e602. View Abstract
41. What works to reduce sedentary behavior in the office, and could these intervention components transfer to the home working environment?: A rapid review and transferability appraisal. Front Sports Act Living. 2022; 4:954639. View Abstract
42. A Role for Data Science in Precision Nutrition and Early Brain Development. Front Psychiatry. 2022; 13:892259. View Abstract
43. mirTarRnaSeq: An R/Bioconductor Statistical Package for miRNA-mRNA Target Identification and Interaction Analysis. BMC Genomics. 2022 Jun 13; 23(1):439. View Abstract
44. Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term. Front Immunol. 2022; 13:854414. View Abstract
45. Increased Breastfeeding Proportion Is Associated with Improved Gross Motor Skills at 3-5 Years of Age: A Pilot Study. Nutrients. 2022 May 26; 14(11). View Abstract
46. An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations. Proc Natl Acad Sci U S A. 2022 05 24; 119(21):e2203928119. View Abstract
47. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. Am J Hum Genet. 2022 05 05; 109(5):961-966. View Abstract
48. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. View Abstract
49. Training pathways and careers for neonatologists interested in cardiovascular care. J Perinatol. 2022 04; 42(4):534-539. View Abstract
50. Transcription factor protein interactomes reveal genetic determinants in heart disease. Cell. 2022 03 03; 185(5):794-814.e30. View Abstract
51. Cytomegalovirus infections in infants in Uganda: Newborn-mother pairs, neonates with sepsis, and infants with hydrocephalus. Int J Infect Dis. 2022 May; 118:24-33. View Abstract
52. Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity. Circ Genom Precis Med. 2022 04; 15(2):e003500. View Abstract
53. Assessment of Maternal Macular Pigment Optical Density (MPOD) as a Potential Marker for Dietary Carotenoid Intake during Lactation in Humans. Nutrients. 2021 Dec 31; 14(1). View Abstract
54. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11 01; 148(5). View Abstract
55. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11 01; 148(5). View Abstract
56. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11; 148(5). View Abstract
57. Abnormal Right-Hemispheric Sulcal Patterns Correlate with Executive Function in Adolescents with Tetralogy of Fallot. Cereb Cortex. 2021 08 26; 31(10):4670-4680. View Abstract
58. Genomic frontiers in congenital heart disease. Nat Rev Cardiol. 2022 01; 19(1):26-42. View Abstract
59. REPORT-PFP: a consensus from the International Patellofemoral Research Network to improve REPORTing of quantitative PatelloFemoral Pain studies. Br J Sports Med. 2021 Oct; 55(20):1135-1143. View Abstract
60. Quantification of magnetic resonance spectroscopy data using a combined reference: Application in typically developing infants. NMR Biomed. 2021 07; 34(7):e4520. View Abstract
61. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiol. 2021 04 01; 6(4):457-462. View Abstract
62. Immune activation during Paenibacillus brain infection in African infants with frequent cytomegalovirus co-infection. iScience. 2021 Apr 23; 24(4):102351. View Abstract
63. microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy. Int J Mol Sci. 2021 Mar 07; 22(5). View Abstract
64. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res. 2021 04 16; 128(8):1156-1169. View Abstract
65. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189. View Abstract
66. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9. View Abstract
67. Paenibacillus infection with frequent viral coinfection contributes to postinfectious hydrocephalus in Ugandan infants. Sci Transl Med. 2020 09 30; 12(563). View Abstract
68. Association of nucleated red blood cell count with mortality among neonatal intensive care unit patients. Pediatr Neonatol. 2020 12; 61(6):592-597. View Abstract
69. De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease. Circ Genom Precis Med. 2020 08; 13(4):e002836. View Abstract
70. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777. View Abstract
71. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843. View Abstract
72. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
73. Maternal Dietary Intake of Omega-3 Fatty Acids Correlates Positively with Regional Brain Volumes in 1-Month-Old Term Infants. Cereb Cortex. 2020 04 14; 30(4):2057-2069. View Abstract
74. Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease. Cereb Cortex. 2020 03 21; 30(2):476-487. View Abstract
75. Screening With Reticulocyte Hemoglobin Increased Iron Sufficiency Among NICU Patients. Pediatr Qual Saf. 2020 Mar-Apr; 5(2):e258. View Abstract
76. Stop the stereotypes - Women should not have to prove their non-inferiority. Am J Emerg Med. 2020 01; 38(1):154-155. View Abstract
77. Psychosocial Stress and Adversity: Effects from the Perinatal Period to Adulthood. Neoreviews. 2019 12; 20(12):e686-e696. View Abstract
78. ORE identifies extreme expression effects enriched for rare variants. Bioinformatics. 2019 10 15; 35(20):3906-3912. View Abstract
79. Paternal-age-related de novo mutations and risk for five disorders. Nat Commun. 2019 07 10; 10(1):3043. View Abstract
80. Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation. PLoS Genet. 2019 02; 15(2):e1007917. View Abstract
81. Response to Brodehl et al. Genet Med. 2019 05; 21(5):1248-1249. View Abstract
82. Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Invest Ophthalmol Vis Sci. 2018 08 01; 59(10):4054-4064. View Abstract
83. Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genet Med. 2019 03; 21(3):650-662. View Abstract
84. Reducing time to initiation and advancement of enteral feeding in an all-referral neonatal intensive care unit. J Perinatol. 2018 07; 38(7):936-943. View Abstract
85. Getting evidence into action to tackle institutional child abuse. Child Abuse Negl. 2017 Dec; 74:111-114. View Abstract
86. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov; 49(11):1593-1601. View Abstract
87. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. View Abstract
88. Patellar Tendinopathy and Potential Risk Factors: An International Database of Cases and Controls. Clin J Sport Med. 2017 Sep; 27(5):468-474. View Abstract
89. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View Abstract
90. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017; 35:7-15. View Abstract
91. Separating Putative Pathogens from Background Contamination with Principal Orthogonal Decomposition: Evidence for Leptospira in the Ugandan Neonatal Septisome. Front Med (Lausanne). 2016; 3:22. View Abstract
92. Fetal Physiology and the Transition to Extrauterine Life. Clin Perinatol. 2016 Sep; 43(3):395-407. View Abstract
93. Treatment options for apnoea of prematurity. Arch Dis Child Fetal Neonatal Ed. 2016 Jul; 101(4):F352-6. View Abstract
94. High volume image guided injections and structured rehabilitation in shoulder impingement syndrome: a retrospective study. Muscles Ligaments Tendons J. 2015 Jul-Sep; 5(3):195-9. View Abstract
95. High volume image-guided injections and structured rehabilitation improve greater trochanter pain syndrome in the short and medium term: a combined retrospective and prospective case series. Muscles Ligaments Tendons J. 2015 Apr-Jun; 5(2):73-87. View Abstract
96. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015; 10(4):e0123829. View Abstract
97. Equivalence of online and clinician administration of a patellar tendinopathy risk factor and severity questionnaire. Scand J Med Sci Sports. 2015 Oct; 25(5):670-7. View Abstract
98. High volume image-guided Injections for patellar tendinopathy: a combined retrospective and prospective case series. Muscles Ligaments Tendons J. 2014 Apr; 4(2):214-9. View Abstract
99. Risk factors and successful interventions for cricket-related low back pain: a systematic review. Br J Sports Med. 2014 Apr; 48(8):685-91. View Abstract
100. miR-145 and miR-143 regulate smooth muscle cell fate and plasticity. Nature. 2009 Aug 06; 460(7256):705-10. View Abstract
101. microRNA-138 modulates cardiac patterning during embryonic development. Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46):17830-5. View Abstract
102. miR-126 regulates angiogenic signaling and vascular integrity. Dev Cell. 2008 Aug; 15(2):272-84. View Abstract
103. Thioredoxin is required for S-nitrosation of procaspase-3 and the inhibition of apoptosis in Jurkat cells. Proc Natl Acad Sci U S A. 2007 Jul 10; 104(28):11609-14. View Abstract
104. Maternal mortality and the consequences on infant and child survival in rural Haiti. Matern Child Health J. 2007 Jul; 11(4):395-401. View Abstract
105. Design and characterization of an active site selective caspase-3 transnitrosating agent. ACS Chem Biol. 2006 Nov 21; 1(10):659-65. View Abstract
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