Information

Related Research Units

Fetal Neonatal Neuroimaging and Developmental Science Center Research
The Manton Center for Orphan Disease Research
Genetics and Genomics Research
Newborn Medicine Research
Morton Lab Research

Research Overview

The Morton Lab aims to advancing our understanding of the neonatal health and disease with the goal of improving diagnosis and personalized care through gene discovery, functional analysis of patient variants, and identifying biomarkers of neonatal outcomes. Specifically, we focus on the genetics of congenital heart disease, and early influence on neurodevelopment.

Combining the perspectives of developmental biology, human genetics, and neonatology, our group is focused on understanding mechanisms of neonatal disease to improve diagnoses and enable new therapeutics. We aim to be interdisciplinary to gain new perspectives on science, so our work is very collaborative including ongoing projects with colleagues in the Fetal-Neonatal Neuroimaging and Developmental Science Center, the Department of Cardiology, and the National Pediatric Cardiac Genomics Consortium.

Research Background

 Sarah Morton, MD, PhD studied Chemistry and Biochemistry at the University of Michigan before obtaining her MD/PhD at the University of California, San Francisco. During her PhD in developmental biology, she studied microRNA regulation of heart development in the laboratory of Dr. Deepak Srivastava. After medical school she competed pediatrics residency at the Boston Combined Residency Program followed by neonatology fellowship in the Harvard Neonatal-Perinatal Fellowship Training Program. After her clinical training, she was a postdoctoral research fellow in the laboratory of Christine and Jonathan Seidman at the Department of Genetics, where she trained in computational biology and human genetics.

In addition to research, Sarah co-chairs the NICU Nutrition Committee and is co-director of the Newborn Medicine Summer Student Research Program. Sarah also helps to organize the weekly Broad Medical and Population Group Primer series, which can be accessed here.

Education

Undergraduate School

University of Michigan
2003 Ann Arbor MI

Medical School

University of California
2010 San Francisco CA

Internship

Boston Combined Residency Program (BCRP)
2011 Boston MA

Residency

Boston Combined Residency Program (BCRP)
2012 Boston MA

Fellowship

Harvard Neonatal-Perinatal Medicine Fellowship Training Program
2016 Boston MA

Publications

  1. Bleeding and Thromboembolic Events With Antiplatelet Agents in Pediatric Heart Disease-An Exploratory Study of the Role of Pharmacogenomics. Pediatr Blood Cancer. 2026 Jul 25; e70507. View Abstract
  2. Village-level surveillance of neonatal disease with integrated real-time dashboards and quality-control in Uganda. medRxiv. 2026 Jul 23. View Abstract
  3. Cutaneous Mycobacterium haemophilum Infection in an Immunosuppressed Host: A Case Report of Diagnostic Considerations and Microbiologic Confirmation. Clin Case Rep. 2026 Jul; 14(7):e73131. View Abstract
  4. Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease. Res Sq. 2026 Jul 20. View Abstract
  5. Linking maternal blood pressure with fetal cerebral haemodynamics and cortical growth in congenital heart disease. EBioMedicine. 2026 Aug; 130:106367. View Abstract
  6. Caring in the Age of AI: A Framework for the Pediatric Trainee. Pediatrics. 2026 Jul 01; 158(1). View Abstract
  7. Risk Factors for Mortality and Age at Discharge in Infants with Congenital Heart Disease Born Preterm. J Pediatr. 2026 Jul 01; 297:115214. View Abstract
  8. The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects. Res Sq. 2026 Jun 30. View Abstract
  9. Placental Dysfunction and Congenital Heart Disease: Investigating the Placenta-Heart Axis. Prenat Diagn. 2026 Jul; 46(8):1193-1200. View Abstract
  10. Genetic Testing in Congenital Heart Disease: From Microarray to Genome Sequencing. Circ Genom Precis Med. 2026 Jun; 19(3):e005794. View Abstract
  11. Access to physician-based Helicopter Emergency Medical Services in the UK: a service analysis in 2024. Emerg Med J. 2026 May 05; 43(5):272-278. View Abstract
  12. Rare KDR Variants Define a Distinct Genetic Contribution to Congenital Heart Disease. Circ Genom Precis Med. 2026 Aug; 19(4):e005659. View Abstract
  13. The Impact of Obesity on Patients in a Prehospital Setting: A Narrative Review. Air Med J. 2026 Jul-Aug; 45(4):395-401. View Abstract
  14. Genome admixture analysis of 1,030 Ugandan infants with neonatal sepsis and hydrocephalus demonstrates geographical stratification of population disease risk. medRxiv. 2026 Mar 23. View Abstract
  15. Prehospital management of acute behavioural disturbance: managing severe agitation in the prehospital setting - a systematic literature review. Emerg Med J. 2026 Mar 18. View Abstract
  16. Brain volumes in fetuses with congenital heart disease and placental vascular abnormalities. J Perinatol. 2026 Jul; 46(7):1155-1163. View Abstract
  17. Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial. J Am Heart Assoc. 2026 Mar 17; 15(6):e046959. View Abstract
  18. Structural variants in human congenital heart disease disrupt distal genomic regulatory contacts of developmental genes. bioRxiv. 2026 Mar 02. View Abstract
  19. Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease. Commun Med (Lond). 2026 Feb 06; 6(1). View Abstract
  20. Quantification of emergency operating theatre process performance: a systematic review of clinical studies. Br J Anaesth. 2026 May; 136(5):1546-1567. View Abstract
  21. Genetics and Brain Health in Adults With Congenital Heart Disease: A Consensus Statement From the ACHD/Neuro 2024 Conference. J Am Heart Assoc. 2026 Jan 20; 15(2):e042617. View Abstract
  22. Quality improvement initiative to optimize use of rapid genomic sequencing in a level IV NICU. J Perinatol. 2026 Jan 12. View Abstract
  23. Advances in interdisciplinary care for term and preterm neonates with congenital heart disease: a narrative review. Eur J Pediatr. 2026 Jan 10; 185(2):66. View Abstract
  24. Plasma and Imaging Biomarker Changes Following Rotational and Contusional Models of Traumatic Brain Injury in Adolescent Pigs. J Neurotrauma. 2026 Jun; 43(11-12):944-955. View Abstract
  25. Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh. Birth Defects Res. 2025 12; 117(12):e70007. View Abstract
  26. RVA Breathes: Costs of a System of Community-Based Interventions to Improve Asthma Care. J Public Health Manag Pract. 2026 Mar-Apr 01; 32(2):E64-E68. View Abstract
  27. Safety of enteral nutrition practices in neonates with umbilical arterial catheters in situ: current evidence to guide clinical practice. J Perinatol. 2026 Mar; 46(3):485-490. View Abstract
  28. FPHC Wellbeing Charter: The 'Whys' and 'Hows' of the Charter. Scand J Trauma Resusc Emerg Med. 2025 Nov 22; 33(1):187. View Abstract
  29. Dosage-sensitive RBFOX2 autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome. bioRxiv. 2025 Nov 11. View Abstract
  30. CLIF-Net: Intersection-Guided Cross-View Fusion Network for Infection Detection From Cranial Ultrasound. IEEE Trans Med Imaging. 2025 11; 44(11):4213-4225. View Abstract
  31. Combined cardiorespiratory and resistance training for people with stroke. Cochrane Database Syst Rev. 2025 09 24; 9:CD016002. View Abstract
  32. Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing. BMC Med Genomics. 2025 Jul 25; 18(1):120. View Abstract
  33. CLIF-Net: Intersection-guided Cross-view Fusion Network for Infection Detection from Cranial Ultrasound. medRxiv. 2025 Jul 22. View Abstract
  34. Remote Programming of Adult and Pediatric Cochlear Implant Recipients: Clinical Trial Results. Otol Neurotol Open. 2025 Sep; 5(3):e073. View Abstract
  35. Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery. Nat Commun. 2025 Jul 10; 16(1):6365. View Abstract
  36. Poor surgical outcomes following Paenibacillus infant infectious hydrocephalus. J Neurosurg Pediatr. 2025 Aug 01; 36(2):145-156. View Abstract
  37. Poor Surgical Outcomes Following Paenibacillus Infant Infectious Hydrocephalus. medRxiv. 2025 May 09. View Abstract
  38. Increasing length board use in a neonatal intensive care unit: a quality improvement initiative. J Perinatol. 2026 Mar; 46(3):479-484. View Abstract
  39. Advancing precision care in pregnancy through a treatable fetal findings list. Am J Hum Genet. 2025 06 05; 112(6):1251-1269. View Abstract
  40. Protocol to analyze deep-learning-predicted functional scores for noncoding de novo variants and their correlation with complex brain traits. STAR Protoc. 2025 Jun 20; 6(2):103738. View Abstract
  41. Impact of congenital heart disease and prematurity on brain injury from a national registry. J Perinatol. 2025 Jul; 45(7):1005-1008. View Abstract
  42. Nature-based interventions for older adults: a systematic review of intervention types and methods, health effects and pathways. Age Ageing. 2025 Mar 28; 54(4). View Abstract
  43. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proc Natl Acad Sci U S A. 2025 Apr; 122(13):e2420343122. View Abstract
  44. Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. J Am Heart Assoc. 2025 03 04; 14(5):e036860. View Abstract
  45. Recessive genetic contribution to congenital heart disease in 5,424 probands. Proc Natl Acad Sci U S A. 2025 Mar 11; 122(10):e2419992122. View Abstract
  46. Access to Ear and Hearing Care Globally: A Survey of Stakeholder Perceptions from the Lancet Commission on Global Hearing Loss. Otol Neurotol. 2025 03 01; 46(3):256-264. View Abstract
  47. Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease. Med Image Anal. 2025 05; 102:103538. View Abstract
  48. Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact. iScience. 2025 Feb 21; 28(2):111707. View Abstract
  49. 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
  50. A Systematic Review of Human Paenibacillus Infections and Comparison of Adult and Pediatric Cases. Pediatr Infect Dis J. 2025 May 01; 44(5):455-461. View Abstract
  51. 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
  52. Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery. medRxiv. 2024 Nov 15. View Abstract
  53. 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
  54. Placental-Heart Axis: An Evolutionary Perspective. Int J Mol Sci. 2024 Oct 18; 25(20). View Abstract
  55. Lifespan health with congenital heart disease: Considering cancer-associated mortality. Pediatr Blood Cancer. 2024 Dec; 71(12):e31349. View Abstract
  56. Maternal Vascular Malperfusion and Anatomic Cord Abnormalities Are Prevalent in Pregnancies With Fetal Congenital Heart Disease. Prenat Diagn. 2025 09; 45(10):1325-1333. View Abstract
  57. Predictive modeling of endocardial fibroelastosis recurrence in patients with congenital heart disease. J Thorac Cardiovasc Surg. 2025 02; 169(2):366-374. View Abstract
  58. Elevated serum neurologic biomarker profiles after cardiac arrest in a porcine model. Resusc Plus. 2024 Sep; 19:100726. View Abstract
  59. Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure. Neuroimage. 2024 08 15; 297:120721. View Abstract
  60. Accurate prediction of neurologic changes in critically ill infants using pose AI. medRxiv. 2024 Jun 10. View Abstract
  61. 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
  62. Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes. J Clin Invest. 2024 Jun 03; 134(11). View Abstract
  63. 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
  64. 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
  65. 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
  66. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024 08; 44(8):1196-1202. View Abstract
  67. A genome-wide CRISPR screen identifies BRD4 as a regulator of cardiomyocyte differentiation. Nat Cardiovasc Res. 2024 03; 3(3):317-331. View Abstract
  68. 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
  69. Genetics and etiology of congenital heart disease. Curr Top Dev Biol. 2024; 156:297-331. View Abstract
  70. Can the MIRACLE2 Score Be Used in the Prehospital Environment and Is It Useful? An Observational Study. Air Med J. 2024 Mar-Apr; 43(2):146-150. View Abstract
  71. 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
  72. Establishing a neonatology consultation program: extending care beyond the neonatal intensive care unit. J Perinatol. 2024 03; 44(3):458-463. View Abstract
  73. Pediatric Intubations in a Semiurban Helicopter Emergency Medicine Service: A Retrospective Review. Air Med J. 2024 Mar-Apr; 43(2):106-110. View Abstract
  74. 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
  75. Human Paenibacillus Infections: A Systematic Review with Comparison of Adult and Infant Cases. medRxiv. 2023 Sep 20. View Abstract
  76. 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
  77. Comparative Effectiveness of Alternative Treatment Approaches to Secondary Hyperparathyroidism in Patients Receiving Maintenance Hemodialysis: An Observational Trial Emulation. Am J Kidney Dis. 2024 01; 83(1):58-70. View Abstract
  78. 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
  79. 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
  80. 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
  81. A Hybrid Deep Learning Approach to Identify Preventable Childhood Hearing Loss. Ear Hear. 2023 Sep-Oct 01; 44(5):1262-1270. View Abstract
  82. Preterm congenital heart disease and neurodevelopment: the importance of looking beyond the initial hospitalization. J Perinatol. 2023 07; 43(7):958-962. View Abstract
  83. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease. Circ Genom Precis Med. 2023 06; 16(3):224-231. View Abstract
  84. 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
  85. Non-invasive diffuse optical monitoring of cerebral physiology in an adult swine-model of impact traumatic brain injury. Biomed Opt Express. 2023 Jun 01; 14(6):2432-2448. View Abstract
  86. Don't discount the epidural. BJOG. 2024 Jun; 131(7):1017. View Abstract
  87. Success rate of prehospital emergency front-of-neck access (FONA): a systematic review and meta-analysis. Br J Anaesth. 2023 05; 130(5):636-644. View Abstract
  88. 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
  89. 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
  90. Tethered cord syndrome in KBG syndrome. Am J Med Genet A. 2023 05; 191(5):1222-1226. View Abstract
  91. 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
  92. Type IV Pili Are a Critical Virulence Factor in Clinical Isolates of Paenibacillus thiaminolyticus. mBio. 2022 12 20; 13(6):e0268822. View Abstract
  93. The Genetics of Neurodevelopment in Congenital Heart Disease. Can J Cardiol. 2023 02; 39(2):97-114. View Abstract
  94. The Prehospital Emergency Anaesthetic in 2022. Air Med J. 2022 Nov-Dec; 41(6):530-535. View Abstract
  95. Decisional Conflict About Kidney Failure Treatment Modalities Among Adults With Advanced CKD. Kidney Med. 2022 Sep; 4(9):100521. View Abstract
  96. Fetal Disseminated Malignant Rhabdoid Tumor. Neoreviews. 2022 08 01; 23(8):e595-e602. View Abstract
  97. 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
  98. Development of an Administrative Data-Based Frailty Index for Older Adults Receiving Dialysis. Kidney360. 2022 09 29; 3(9):1566-1577. View Abstract
  99. A Role for Data Science in Precision Nutrition and Early Brain Development. Front Psychiatry. 2022; 13:892259. View Abstract
  100. mirTarRnaSeq: An R/Bioconductor Statistical Package for miRNA-mRNA Target Identification and Interaction Analysis. BMC Genomics. 2022 Jun 13; 23(1):439. View Abstract
  101. Premature Infants Have Normal Maturation of the T Cell Receptor Repertoire at Term. Front Immunol. 2022; 13:854414. View Abstract
  102. 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
  103. 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
  104. 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
  105. 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
  106. Training pathways and careers for neonatologists interested in cardiovascular care. J Perinatol. 2022 04; 42(4):534-539. View Abstract
  107. Transcription factor protein interactomes reveal genetic determinants in heart disease. Cell. 2022 03 03; 185(5):794-814.e30. View Abstract
  108. 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
  109. 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
  110. Systematic review of process evaluations of interventions in trials investigating sedentary behaviour in adults. BMJ Open. 2022 Jan 31; 12(1):e053945. View Abstract
  111. 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
  112. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11 01; 148(5). View Abstract
  113. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11 01; 148(5). View Abstract
  114. Reducing Benzodiazepine Exposure by Instituting a Guideline for Dexmedetomidine Usage in the NICU. Pediatrics. 2021 11; 148(5). View Abstract
  115. 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
  116. A qualitative study of sedentary behaviours in stroke survivors: non-participant observations and interviews with stroke service staff in stroke units and community services. Disabil Rehabil. 2022 10; 44(20):5964-5973. View Abstract
  117. Core Outcome Measures for Palliative and End-of-Life Research After Severe Stroke: Mixed-Method Delphi Study. Stroke. 2021 11; 52(11):3507-3513. View Abstract
  118. Genomic frontiers in congenital heart disease. Nat Rev Cardiol. 2022 01; 19(1):26-42. View Abstract
  119. Risks associated with continuation of potentially inappropriate antihypertensive medications in older adults receiving hemodialysis. BMC Nephrol. 2021 06 19; 22(1):232. View Abstract
  120. 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
  121. Non-nutritive suck and airborne metal exposures among Puerto Rican infants. Sci Total Environ. 2021 Oct 01; 789:148008. View Abstract
  122. Rapid sequence induction: where did the consensus go? Scand J Trauma Resusc Emerg Med. 2021 May 13; 29(1):64. View Abstract
  123. Quantification of magnetic resonance spectroscopy data using a combined reference: Application in typically developing infants. NMR Biomed. 2021 07; 34(7):e4520. View Abstract
  124. 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
  125. Immune activation during Paenibacillus brain infection in African infants with frequent cytomegalovirus co-infection. iScience. 2021 Apr 23; 24(4):102351. View Abstract
  126. Field cancerization in the skin: Past errors repeated. J Am Acad Dermatol. 2021 07; 85(1):e41. View Abstract
  127. microRNA-mRNA Profile of Skeletal Muscle Differentiation and Relevance to Congenital Myotonic Dystrophy. Int J Mol Sci. 2021 Mar 07; 22(5). View Abstract
  128. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency. Circ Res. 2021 04 16; 128(8):1156-1169. View Abstract
  129. Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles. PLoS Genet. 2020 11; 16(11):e1009189. View Abstract
  130. Epidural analgesia, intrapartum hyperthermia, and neonatal brain injury: a systematic review and meta-analysis. Br J Anaesth. 2021 02; 126(2):500-515. View Abstract
  131. GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm. Elife. 2020 10 15; 9. View Abstract
  132. Paenibacillus infection with frequent viral coinfection contributes to postinfectious hydrocephalus in Ugandan infants. Sci Transl Med. 2020 09 30; 12(563). View Abstract
  133. A co-production approach guided by the behaviour change wheel to develop an intervention for reducing sedentary behaviour after stroke. Pilot Feasibility Stud. 2020; 6:115. View Abstract
  134. Properties of Pain Assessment Tools for Use in People Living With Stroke: Systematic Review. Front Neurol. 2020; 11:792. View Abstract
  135. 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
  136. 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
  137. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nat Genet. 2020 08; 52(8):769-777. View Abstract
  138. Factors influencing sedentary behaviours after stroke: findings from qualitative observations and interviews with stroke survivors and their caregivers. BMC Public Health. 2020 Jun 19; 20(1):967. View Abstract
  139. Congenital Heart Defects Due to TAF1 Missense Variants. Circ Genom Precis Med. 2020 06; 13(3):e002843. View Abstract
  140. Whole blood transfusion versus component therapy in adult trauma patients with acute major haemorrhage. Emerg Med J. 2020 Jun; 37(6):370-378. View Abstract
  141. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. Genome Med. 2020 04 29; 12(1):42. View Abstract
  142. 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
  143. 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
  144. Screening With Reticulocyte Hemoglobin Increased Iron Sufficiency Among NICU Patients. Pediatr Qual Saf. 2020 Mar-Apr; 5(2):e258. View Abstract
  145. Health and sustainable development: an analysis of 20 European voluntary national reviews. Public Health. 2020 Mar; 180:180-184. View Abstract
  146. Stop the stereotypes - Women should not have to prove their non-inferiority. Am J Emerg Med. 2020 01; 38(1):154-155. View Abstract
  147. Maximising and evaluating the uptake, use and impact of golf and health studies. Br J Sports Med. 2020 Oct; 54(20):1217-1224. View Abstract
  148. Psychosocial Stress and Adversity: Effects from the Perinatal Period to Adulthood. Neoreviews. 2019 12; 20(12):e686-e696. View Abstract
  149. ORE identifies extreme expression effects enriched for rare variants. Bioinformatics. 2019 10 15; 35(20):3906-3912. View Abstract
  150. Frailty and Acute Kidney Injury: a 1-Year Follow-up of a Prospective Cohort. J Gen Intern Med. 2019 08; 34(8):1390-1391. View Abstract
  151. The sustainable development goals provide an important framework for addressing dangerous climate change and achieving wider public health benefits. Public Health. 2019 Sep; 174:65-68. View Abstract
  152. Paternal-age-related de novo mutations and risk for five disorders. Nat Commun. 2019 07 10; 10(1):3043. View Abstract
  153. Clarifying the mechanisms and resources that enable the reciprocal involvement of seldom heard groups in health and social care research: A collaborative rapid realist review process. Health Expect. 2019 06; 22(3):298-306. View Abstract
  154. 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
  155. Public health outcome of Tuberculosis Cluster Investigations, England 2010-2013. J Infect. 2019 04; 78(4):269-274. View Abstract
  156. Response to Brodehl et al. Genet Med. 2019 05; 21(5):1248-1249. View Abstract
  157. 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
  158. Sedentary behavior after stroke: A new target for therapeutic intervention. Int J Stroke. 2019 01; 14(1):9-11. View Abstract
  159. Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genet Med. 2019 03; 21(3):650-662. View Abstract
  160. 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
  161. Getting evidence into action to tackle institutional child abuse. Child Abuse Negl. 2017 Dec; 74:111-114. View Abstract
  162. 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
  163. 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
  164. 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
  165. Intratendinous tears of the Achilles tendon - a new pathology? Analysis of a large 4-year cohort. Muscles Ligaments Tendons J. 2017 Jan-Mar; 7(1):53-61. View Abstract
  166. Outcomes of prolotherapy for intra-tendinous Achilles tears: a case series. Muscles Ligaments Tendons J. 2017 Jan-Mar; 7(1):78-87. View Abstract
  167. 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
  168. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017; 35:7-15. View Abstract
  169. Describing team development within a novel GP-led urgent care centre model: a qualitative study. BMJ Open. 2016 06 23; 6(6):e010224. View Abstract
  170. 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
  171. Fetal Physiology and the Transition to Extrauterine Life. Clin Perinatol. 2016 Sep; 43(3):395-407. View Abstract
  172. What do patients really know? An evaluation of patients' physical activity guideline knowledge within general practice. London J Prim Care (Abingdon). 2016; 8(4):48-55. View Abstract
  173. Treatment options for apnoea of prematurity. Arch Dis Child Fetal Neonatal Ed. 2016 Jul; 101(4):F352-6. View Abstract
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