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Author Details

Katie Bergstrom
Baylor College of Medicine, Texas Children's Hospital
2014
22
11
PMIDPaper TitleJournal TitlePublished Year
35181412The genetics of vascular birthmarks.Clin Dermatol2022
36681951Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.J Neurosurg Pediatr2022
34342889Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.Am J Hematol2021
33834622Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.Mol Genet Genomic Med2021
32790018Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.Hum Mutat2020
30581014Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families.Patient Educ Couns2019
30198636PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.Pediatr Blood Cancer2019
30904992First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3.Int J Hematol2019
30482469Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents.Patient Educ Couns2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
30121717Undergraduate Student Perceptions and Awareness of Genetic Counseling.J Genet Couns2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
28972538Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.J Clin Invest2017
29749861Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure.Per Med2017
28942966Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Am J Hum Genet2017
27100794Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.Pediatr Blood Cancer2016
27626068Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.Cold Spring Harb Mol Case Stud2016
26822237Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.JAMA Oncol2016
25898977Haemophilia B acquired from liver transplantation: a case report and literature review.Haemophilia2015
26479562Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.J Law Med Ethics2015
24706524Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge.Pediatr Blood Cancer2014
25317207Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.Genome Med2014
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Collaborators

Sharon E Plon
Baylor College of Medicine
Co-authored papers 9
Donald W Parsons
Texas Children's Hospital
Co-authored papers 8
Sarah Scollon
Texas Children's Cancer Center, Texas Children's Hospital
Co-authored papers 8
Amy L McGuire
Baylor College of Medicine.
Co-authored papers 7
Yaping Yang
Baylor College of Medicine
Co-authored papers 4
Alison A Bertuch
Baylor College of Medicine
Co-authored papers 4
Susan G Hilsenbeck
Co-authored papers 3
Murali Chintagumpala
Texas Children's Cancer Center, Baylor College of Medicine
Co-authored papers 3
Jill O Robinson
Baylor College of Medicine.
Co-authored papers 3
Laura K Conlin
Children's Hospital of Philadelphia
Co-authored papers 2
Laura M Amendola
Illumina Inc.
Co-authored papers 2
David A Wheeler
Baylor College of Medicine
Co-authored papers 2
Katrina A B Goddard
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 2
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 2
Richard A Gibbs
Baylor College of Medicine
Co-authored papers 2
Angshumoy Roy
Texas Children's Hospital and Baylor College of Medicine
Co-authored papers 2
Arezou A Ghazani
Brigham and Women's Hospital, USA Harvard Medical School
Co-authored papers 2
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 2
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 2
Katie L Lewis
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Tia L Kauffman
Kaiser Permanente Center for Health Research
Co-authored papers 2
Benjamin S Wilfond
University of Washington School of Medicine.
Co-authored papers 2
Laurence B McCullough
Zucker School of Medicine at Hofstra/Northwell, and Lenox Hill Hospital
Co-authored papers 2
Jonathan S Berg
University of North Carolina
Co-authored papers 2
Robert C Green
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 2
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 2
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
Matthew C Dulik
Children's Hospital of Philadelphia, University of Pennsylvania
Co-authored papers 2
Sawona Biswas
University of California San Francisco
Co-authored papers 2
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 2
Release 1.2