Canlyniadau Chwilio - Sibel Kantarci

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  1. 1
    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) gan Lora Jh Bean, Birgit Funke, Colleen M. Carlston, Jennifer Gannon, Sibel Kantarci, Bryan L. Krock, Shulin Zhang, Pınar Bayrak‐Toydemir

    Cyhoeddwyd 2019
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  2. 2
    A Call to Action

    A Call to Action gan Richard L. Haspel, Ramy Arnaout, Lauren C. Briere, Sibel Kantarci, Karen Marchand, Peter J. Tonellato, James L. Connolly, Mark S. Boguski, Jeffrey E. Saffitz

    Cyhoeddwyd 2010
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  3. 3
    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia gan Brent L. Fogel, Hane Lee, Joshua L. Deignan, Samuel P. Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero‐Rivera, Éric Vilain, Wayne W. Grody, Susan Perlman, Daniel H. Geschwind, Stanley F. Nelson

    Cyhoeddwyd 2014
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  4. 4
    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... gan Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Alastair J. Martin

    Cyhoeddwyd 2019
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  5. 5
    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

    Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Gen... gan Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin

    Cyhoeddwyd 2021
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    Errata/Corrigenda
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  6. 6
    Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1</i>, in patients with CDH

    Characterization of the chromosome 1q41q42.12 region, and the candidate gene <i>DISP1</i>, in patients with CDH gan Sibel Kantarci, Kate G. Ackerman, Meaghan Russell, Mauro Longoni, Carrie Sougnez, Kristin Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane‐Yeboa, Paul W. Dickman, Jay M. Wilson, Patricia K. Donahoe, Barbara R. Pober

    Cyhoeddwyd 2010
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  7. 7
    Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

    Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome gan Sibel Kantarci, David Casavant, Carlos E. Prada, Matthew Russell, Janice L. B. Byrne, Louise Wilkins Haug, Rebecca B. Jennings, Simon M. Manning, Theonia K. Boyd, J. P. Fryns, Lewis B. Holmes, Patricia K. Donahoe, C. Lee, Virginia Kimonis, Barbara R. Pober

    Cyhoeddwyd 2005
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  8. 8
    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

    De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay gan Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthélémy, M. Carrie Miceli, Fabiola Quintero‐Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Cyhoeddwyd 2015
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  9. 9
    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes gan Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill, Dian Donnai, Graeme Black, Éric Bieth, Nicolas Chassaing, Didier Lacombe, Koenraad Devriendt, Ahmad S. Teebi, Marı́a Loscertales, Caroline D. Robson, Tianming Liu, David T. MacLaughlin, Kristin Noonan, Meaghan Russell, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

    Cyhoeddwyd 2007
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  10. 10
    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders gan Hane Lee, Joshua L. Deignan, Naghmeh Dorrani, Samuel P. Strom, Sibel Kantarci, Fabiola Quintero‐Rivera, Kingshuk Das, Traci L. Toy, Bret Harry, Michael Yourshaw, Michelle Fox, Brent L. Fogel, Julián A. Martínez-Agosto, Derek A. Wong, Vivian Y. Chang, Perry B. Shieh, Christina G.S. Palmer, Katrina M. Dipple, Wayne W. Grody, Éric Vilain, Stanley F. Nelson

    Cyhoeddwyd 2014
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  11. 11
    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

    Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis gan Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire Redin, Ryan L. Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F. Crandall, Pamela Gerrol, Mark A. Hayden, Naveed Hussain, Bibi Kanengisser‐Pines, Sibel Kantarci, Brynn Levy, Michael J. Macera, Fabiola Quintero‐Rivera, Erica Spiegel, Blair Stevens, Janet E. Ulm, Dorothy Warburton, Louise Wilkins‐Haug, Naomi Yachelevich, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    Cyhoeddwyd 2016
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  12. 12
    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay gan Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln

    Cyhoeddwyd 2017
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