Publications by authors named "Sayaka Hashimoto"

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Ultrasound-Driven Diagnosis of Hamate Hook Stress Fracture in Athlete: A Case Report.
Sayaka Hashimoto, Kiyohito Naito, So Kawakita, Takamaru Suzuki, Norizumi Imazu

Am J Case Rep· August 2025

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Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Alayne P Meyer, Jianing Ma, Guy Brock, Sayaka Hashimoto, Catherine E Cottrell

Muscle Nerve· November 2023

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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mariam T Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither, Sayaka Hashimoto

J Mol Diagn· September 2022

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Incoherent Optical Tweezers on Black Titanium.
Sayaka Hashimoto, Yuki Uenobo, Ryota Takao, Ken-Ichi Yuyama, Tatsuya Shoji

ACS Appl Mater Interfaces· June 2021

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Impact of variant reclassification in the clinical setting of cardiovascular genetics.
Rebecca E VanDyke, Sayaka Hashimoto, Ana Morales, Robert E Pyatt, Amy C Sturm

J Genet Couns· April 2021

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5' Amplification in Neuroblastoma: A Case Report.
Sara Akhavanfard, Erik Nohr, Mohammad AlNajjar, Mollie Haughn, Sayaka Hashimoto

Case Rep Oncol· March 2021

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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cecelia R Miller, Kristy Lee, Ruthann B Pfau, Shalini C Reshmi, Donald J Corsmeier, Sayaka Hashimoto

Cold Spring Harb Mol Case Stud· June 2020

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Atomic-level separation of thiolate-protected metal clusters.
Yuichi Negishi, Sayaka Hashimoto, Ayano Ebina, Kota Hamada, Sakiat Hossain

Nanoscale· April 2020

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Atomic and Isomeric Separation of Thiolate-Protected Alloy Clusters.
Yoshiki Niihori, Yuki Koyama, Seiichiro Watanabe, Sayaka Hashimoto, Sakiat Hossain

J Phys Chem Lett· September 2018

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Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.
Elizabeth S Barrie, Yu Li, Devon Lamb-Thrush, Sayaka Hashimoto, Theodora Matthews

Eur J Med Genet· July 2018

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Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.
Rajeswari Swaminathan, Yungui Huang, Katherine Miller, Matthew Pastore, Sayaka Hashimoto

Front Genet· February 2018

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Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt

Cytogenet Genome Res· September 2017

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Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Mariana Kekis, Carol Deeg, Sayaka Hashimoto, Aimee McKinney, Linda Erdman

Am J Med Genet A· April 2017

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A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.
Mariana Kekis, Sayaka Hashimoto, Carol Deeg, Inga Calloway, Aimee McKinney

Eur J Med Genet· November 2016

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Characteristics of patients with primary open angle glaucoma and normal tension glaucoma at a university hospital: a cross-sectional retrospective study.
Yu Yokoyama, Kazuichi Maruyama, Hideyuki Konno, Sayaka Hashimoto, Mai Takahashi

BMC Res Notes· August 2015

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Gradual reduction in rRNA transcription triggers p53 acetylation and apoptosis via MYBBP1A.
Takuya Kumazawa, Kazuho Nishimura, Naohiro Katagiri, Sayaka Hashimoto, Yuki Hayashi

Sci Rep· June 2015

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A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Samiah A Al-Zaidy, Vinod Malik, Kelley Kneile, Xiomara Q Rosales, Ana Maria Gomez, Sayaka Hashimoto

Mol Genet Genomic Med· March 2015

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Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Lauren C Walters-Sen, Sayaka Hashimoto, Devon Lamb Thrush, Shalini Reshmi, Julie M Gastier-Foster

Mol Genet Genomic Med· March 2015

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Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Lauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, Sayaka Hashimoto, Shalini Reshmi

Eur J Med Genet· July 2014

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Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Michelle B Polan, Matthew T Pastore, Katherine Steingass, Sayaka Hashimoto, Devon L Thrush

Eur J Hum Genet· January 2014

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Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
Elena A Repnikova, Jill A Rosenfeld, Andrea Bailes, Cecilia Weber, Linda Erdman, Sayaka Hashimoto

Forensic Sci Int Genet· September 2013

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[Investigation of whether CLSI broth microdilution method is applicable for MICs Determination of Enterococcus species].
Takeshi Hashimoto, Sayaka Hashimoto, Manabu Matsuzaki, Yoshihiro Sekiguchi, Yoshiyasu Hashimoto

Shokuhin Eiseigaku Zasshi· April 2013

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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Sayaka Hashimoto

Am J Hum Genet· February 2013

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Newborn and carrier screening for spinal muscular atrophy.
Thomas W Prior, Pamela J Snyder, Britton D Rink, Dennis K Pearl, Robert E Pyatt, Sayaka Hashimoto

Am J Med Genet A· July 2010

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Milk replacers and bovine spongiform encephalopathy in calves, Japan.
Toshiyuki Tsutsui, Takehisa Yamamoto, Sayaka Hashimoto, Takashi Nonaka, Akiko Nishiguchi

Emerg Infect Dis· March 2008

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