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Author Details
Full Name
Danielle Mouhlas
Affiliation
Clinical Laboratory, Institute for Genomic Medicine, Nationwide Children's Hospital
ORCID
Career Start Year
2018
Papers
6
H Index
3
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
35718094
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
J Mol Diagn
2022
32371413
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cold Spring Harb Mol Case Stud
2020
32721402
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
2020
32611652
Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a <i>de novo MSH2</i> mutation.
BMJ Case Rep
2020
29515625
Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.
Front Genet
2018
29572065
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.
Eur J Med Genet
2018
1 - 6 of 6
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row(s) 1 - 30 of 30
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Nationwide Children's Hospital, The Ohio State University College of Medicine
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Marco Tartaglia
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Serena Cecchetti
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Francesca Clementina Radio
Ospedale Pediatrico Bambino Gesu IRCCS
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Bruce D Gelb
Icahn School of Medicine at Mount Sinai
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Vincent Magrini
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Rajeswari Swaminathan
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Benjamin J Kelly
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