Bayrak-Toydemir Pinar - Associated Regional and University Pathologists, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah

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论文共 114 篇作者统计合作学者相似作者

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Novel Molecular Mechanism in Malan Syndrome Uncovered Through Genome Sequencing Reanalysis, Exon-Level Array, and RNA Sequencing

Jian Zhao,Nicola Longo, Robert G. Lewis,Thomas J. Nicholas,Steven E. Boyden,Ashley Andrews,Austin Larson,Pinar Bayrak-Toydemir,Lorenzo D. Botto,Rong Mao

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2024)

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O20: Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges

Robert Lewis,Makenzie Fulmer, Jian Zhao,Lucilla Pizzo,Ting Wen,John O'Shea,Thomas Nicholas,Steven Boyden,David Viskochil,Nicola Longo,Ashley Andrews, Erin Baldwin,Matt Velinder,Russell Butterfield,Karin Dent,Kourtney Santucci,Austin Larson,Rong Mao,Lorenzo Botto,Pinar Bayrak-Toydemir

Genetics in Medicine Open (2024): 101470

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Slice Testing—Considerations from Ordering to Reporting

Jeffrey A. SoRelle,Birgit Funke,Celeste Eno,Jianling Ji,Avni Santani,Pınar Bayrak‐Toydemir, Megan B. Wachsmann,Karen E. Wain,Rong Mao

The Journal of molecular diagnostics/The journal of molecular diagnosticsno. 3 (2024): 159-167

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Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors

Jeffrey A. Sorelle,Birgit H. Funke,Celeste C. Eno,Jianling Ji,Avni Santani,Pinar Bayrak-Toydemir,Megan Wachsmann,Karen E. Wain,Rong Mao

JOURNAL OF MOLECULAR DIAGNOSTICSno. 3 (2024): 159-167

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Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT)

Kevin J. Whitehead, Doruk Toydemir,Whitney Wooderchak-Donahue,Gretchen M. Oakley, Bryan Mcrae,Angelica Putnam,Jamie Mcdonald,Pinar Bayrak-Toydemir

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 14 (2024)

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P398: A rare report of a child with mosaic trisomy 4

Lauren Bartik,Elena Repnikova,Eric Rush,Jennifer Roberts, Erin Baldwin,John Carey,Lorenzo Botto,John O'Shea,Ting Wen,Pinar Bayrak-Toydemir,Rong Mao,Undiagnosed Diseases Network,Bonnie Sullivan

Genetics in Medicine Open (2024): 101292

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Variant-specific Pathophysiological Mechanisms of AFF3 Differently Influence Transcriptome Profiles

Sissy Bassani,Jacqueline Chrast,Giovanna Ambrosini,Norine Voisin,Frédéric Schütz,Alfredo Brusco,Fabio Sirchia, Lydia Turban,Susanna Schubert,Rami Abou Jamra,Jan-Ulrich Schlump,Desiree DeMille,Pinar Bayrak-Toydemir,Gary Rex Nelson, Kristen Nicole Wong,Laura Duncan,Mackenzie Mosera,Christian Gilissen,Lisenka E. L. M. Vissers,Rolph Pfundt,Rogier Kersseboom,Hilde Yttervik,Geir Åsmund Myge Hansen,Marie Falkenberg Smeland,Kameryn M. Butler,Michael J. Lyons,Claudia M. B. Carvalho,Chaofan Zhang,James R. Lupski,Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero,Florence Petit,Binnaz Yalcin, Annabelle Tuttle,Houda Zghal Elloumi, Lane McCormick,Mary Kukolich,Oliver Klaas,Judit Horvath,Marcello Scala,Michele Iacomino,Francesca Operto,Federico Zara,Karin Writzl,Aleš Maver,Maria K. Haanpää,Pia Pohjola, Harri Arikka,Anneke J. A. Kievit, Camilla Calandrini,Christian Iseli,Nicolas Guex,Alexandre Reymond

GENOME MEDICINE（2024）

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P516: RNASeq Analysis Identifies the Pathogenicity of Inherited Synonymous Splice-Region Variant in NEB, Confirming a Diagnosis of Neonatal Nemaline Myopathy 2

Barry Moore,Thomas Nicholas,Rong Mao,Brian Shayota,Steven Boyden,Chelsea Solorzano,Rachel Palmquist,Pinar Bayrak-Toydemir,Katherine Noble,Andrew Farrell,Edgar Hernandez,Shawn Rynearson,Carson Holt,Alistair Ward,Eric Fredrickson, Kelsey Nicholson,David Pattison, Jian Zhao,Makenzie Fulmer,Lucilla Pizzo

Genetics in Medicine Openno. 1 (2023): 100563-100563

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