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Author Details

Francis Sessions Cole
Washington University in St. Louis School of Medicine
1978
143
43
PMIDPaper TitleJournal TitlePublished Year
35974162Improving child health through Big Data and data science.Pediatr Res2023
38095064Case report: ocular manifestations of a gain-of-function mutation in <i>CLCN6</i>, a newly diagnosed disease.Ophthalmic Genet2023
35695966Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.Pediatr Nephrol2023
37256937PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Sci Transl Med2023
34571022Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study.J Pediatr2022
35676073The Role of Genome Sequencing in Neonatal Intensive Care Units.Annu Rev Genomics Hum Genet2022
35822402Associations Between Weight and Lower Respiratory Tract Disease Outcomes in Hospitalized Children.Hosp Pediatr2022
35064761Measuring BMI change among children and adolescents.Pediatr Obes2022
35077664First Steps toward Personalized Therapies for ABCA3 Deficiency.Am J Respir Cell Mol Biol2022
33184947Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.Am J Med Genet A2021
33850292Improving VLBW infant outcomes with big data analytics.Pediatr Res2021
33676932A Longitudinal Comparison of Alternatives to Body Mass Index Z-Scores for Children with Very High Body Mass Indexes.J Pediatr2021
33931933Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).Am J Med Genet A2021
35047865From karyotypes to precision genomics in 9p deletion and duplication syndromes.HGG Adv2021
34469722Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.Cell Rep2021
34570182Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.JAMA Pediatr2021
34106554Fetal Tracheal Occlusion for Congenital Diaphragmatic Hernia.N Engl J Med2021
33984517Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).J Steroid Biochem Mol Biol2021
34113546A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.Mol Genet Metab Rep2021
30585099Addressing medically underserved populations through maternal-fetal transport: a geographic analysis.J Matern Fetal Neonatal Med2020
32083401Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.Am J Med Genet A2020
33210059Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly.J Endocr Soc2020
32692933Functional Genomics of <i>ABCA3</i> Variants.Am J Respir Cell Mol Biol2020
32711746The Challenge of Risk Stratification of Infants Born Preterm in the Setting of Competing and Disparate Healthcare Outcomes.J Pediatr2020
32532883Precise breakpoint detection in a patient with 9p- syndrome.Cold Spring Harb Mol Case Stud2020
31115254Use of EHR-Based Pediatric Quality Measures: Views of Health System Leaders and Parents.Am J Med Qual2020
30913273CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans.PLoS One2019
30914273Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.Bone2019
29198536Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.J Pediatr2018
29967526Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.Pediatr Res2018
30414627Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.Am J Hum Genet2018
29411327Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.World J Pediatr2018
29538355Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.Pediatr Res2018
29654098Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.Circ Genom Precis Med2018
29183099Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.Am J Perinatol2018
28638509Resident Experiences With Implementation of the I-PASS Handoff Bundle.J Grad Med Educ2017
28215425Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.J Pediatr2017
28241211Families as Partners in Hospital Error and Adverse Event Surveillance.JAMA Pediatr2017
28965766Differentiation of Human Pluripotent Stem Cells into Functional Lung Alveolar Epithelial Cells.Cell Stem Cell2017
28726266Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).Hum Mutat2017
28879171The Genomics of Neonatal Abstinence Syndrome.Front Pediatr2017
26931382ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Hum Mutat2016
26547207Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.World J Pediatr2016
27374344Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.Am J Respir Cell Mol Biol2016
26935785Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants.J Pediatr2016
25712598Respiratory failure in a term infant with cis and trans mutations in ABCA3.J Perinatol2015
23666045Congenital lymphocytic choriomeningitis virus: when to consider the diagnosis.J Child Neurol2014
25553246Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.BMJ Open Respir Res2014
25280267Minoxidil-associated anorexia in an infant with refractory hypertension.Pharmacotherapy2014
25372088Changes in medical errors after implementation of a handoff program.N Engl J Med2014
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Susan A Berry
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Richard E McClead
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Arnold Pollak
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William Kenneth Poole
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Arthur L Beaudet
Baylor College of Medicine
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Collaborators

Aaron Hamvas
Northwestern University Feinberg School of Medicine
Co-authored papers 42
Ping An
Co-authored papers 6
Qunyuan Zhang
Co-authored papers 4
Christopher S Carlson
University of Washington
Co-authored papers 4
Michael J MacCoss
University of Washington
Co-authored papers 3
Hanieh Razzaghi
Children's Hospital of Philadelphia
Co-authored papers 3
Lucinda Fulton
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 3
Michael R DeBaun
Vanderbilt University School of Medicine
Co-authored papers 3
Zachary A Vesoulis
Washington University in St Louis School of Medicine
Co-authored papers 3
Shashikant Kulkarni
Centene Center for Health Transformation, Centene Corporation
Co-authored papers 3
DeWayne M Pursley
Beth Israel Deaconess Medical Center, Harvard Medical School
Co-authored papers 3
Christopher P Landrigan
Brigham and Women's Hospital, Harvard Medical School, Boston Children's Hospital
Co-authored papers 3
Martin Kircher
Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin
Co-authored papers 2
Stuart H Orkin
Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School
Co-authored papers 2
Philip T Levy
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Catherine Yoon
Hospital Medicine Unit, Brigham and Women's Hospital
Co-authored papers 2
David H Rowitch
Wellcome Trust-Medical Research Council Stem Cell Institute and.
Co-authored papers 2
James E Gern
University of Wisconsin School of Medicine and Public Health
Co-authored papers 2
Michael J Bamshad
University of Washington
Co-authored papers 2
Steven H Abman
Children's Hospital Colorado
Co-authored papers 2
Scott J Russo
Co-authored papers 2
John Wright
Co-authored papers 2
Christopher B Forrest
Applied Clinical Research Center, Children's Hospital of Philadelphia
Co-authored papers 2
Deborah A Nickerson
University of Washington
Co-authored papers 2
Robyn J Barst
Columbia University
Co-authored papers 2
Stuart R Lipsitz
Harvard Medical School
Co-authored papers 2
Michael K Georgieff
University of Minnesota
Co-authored papers 2
Alison G Cahill
Dell Medical School, University of Texas at Austin
Co-authored papers 2
Gabriel G Haddad
university of california san diego
Co-authored papers 2
Peter E Newburger
Co-authored papers 2
Release 1.2