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Author Details

Sayaka Hashimoto
Institute for Genomic Medicine, Nationwide Children's Hospital
2010
17
7
PMIDPaper TitleJournal TitlePublished Year
37789688Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.Muscle Nerve2023
35718094A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.J Mol Diagn2022
33029862Impact of variant reclassification in the clinical setting of cardiovascular genetics.J Genet Couns2021
339766385' <i>ALK</i> Amplification in Neuroblastoma: A Case Report.Case Rep Oncol2021
32371413Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.Cold Spring Harb Mol Case Stud2020
29515625Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.Front Genet2018
29572065Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.Eur J Med Genet2018
28746920Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.Cytogenet Genome Res2017
28328127Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.Am J Med Genet A2017
27717910A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.Eur J Med Genet2016
25802879A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.Mol Genet Genomic Med2015
25802880Variability in pathogenicity prediction programs: impact on clinical diagnostics.Mol Genet Genomic Med2015
23695283Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.Eur J Hum Genet2014
24821304Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.Eur J Med Genet2014
23332918Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.Am J Hum Genet2013
23948316Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.Forensic Sci Int Genet2013
20578137Newborn and carrier screening for spinal muscular atrophy.Am J Med Genet A2010
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Collaborators

Caroline Astbury
Pathology and Laboratory Medicine Institute, Cleveland Clinic
Co-authored papers 9
Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 7
Danielle Mouhlas
Clinical Laboratory, Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 4
Matthew Pastore
Nationwide Children's Hospital, The Ohio State University College of Medicine
Co-authored papers 2
Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 2
Evan E Eichler
University of Washington
Co-authored papers 1
Soo-Mi Park
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 1
Nicholas Katsanis
Northwestern University
Co-authored papers 1
Joanne M Drautz
University of New Mexico
Co-authored papers 1
Basil T Darras
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Peter White
The Ohio State University
Co-authored papers 1
Santhosh Girirajan
The Huck Institutes of Life Sciences, University Park, Pennsylvania State University
Co-authored papers 1
Yungui Huang
Research Institute at Nationwide Childrens Hospital, University of Iowa
Co-authored papers 1
James F Gusella
Co-authored papers 1
Christian R Marshall
Co-authored papers 1
Bauke Ylstra
Cancer Center Amsterdam, Vrije Universiteit Amsterdam
Co-authored papers 1
Theodora Jacobson
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 1
Simon Lin
The Abigail Wexner Research Institute, Nationwide Children's Hospital
Co-authored papers 1
Danielle Posthuma
Co-authored papers 1
Bimal P Chaudhari
Nationwide Children's Hospital
Co-authored papers 1
Stephen W Scherer
The Hospital for Sick Children
Co-authored papers 1
Amy C Sturm
Genomic Medicine Institute, USA Heart and Vascular Institute
Co-authored papers 1
Vincent Magrini
The Ohio State University
Co-authored papers 1
Louis M Kunkel
Boston Children's Hospital and Harvard Medical School
Co-authored papers 1
Rajeswari Swaminathan
The Research Institute at Nationwide Children's Hospital
Co-authored papers 1
Benjamin J Kelly
Nationwide Children's Hospital
Co-authored papers 1
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 1
Elaine R Mardis
The Ohio State University
Co-authored papers 1
Kristy Lee
The University of North Carolina at Chapel Hill
Co-authored papers 1
Richard K Wilson
The Ohio State University
Co-authored papers 1
Release 1.2