Search Results - Saadet Mercimek‐Andrews

  • Showing 1 - 14 results of 14
Refine Results
  1. 1
    Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment

    Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment by R. A. Sultan, Marta Villa‐Lopez, Clara Hung, Marshall E. McCabe, Oksana Suchowersky, Jordan Urlacher, Saadet Mercimek‐Andrews

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing by Theodora U. J. Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian R. Marshall, Saadet Mercimek‐Andrews

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    <scp>AADC</scp> deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients by Toni S. Pearson, Laura Gilbert, Thomas Opladen, Ángeles García‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, S K Tay, Jolanta Sykut‐Cegielska, Roser Pons, Saadet Mercimek‐Andrews, Mitsuhiro Kato, Thomas Lücke, Mari Oppebøen, Manju A. Kurian, Dora Steel, Filippo Manti, Kathleen D. Meeks, Kathrin Jeltsch, Lisa Flint

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing by Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency by Natalia Juliá‐Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horváth, Thomas Lücke, Cheuk Wing Fung, Suet‐Na Wong, Elisenda Cortès‐Saladelafont, M. Mar Rovira‐Remisa, Yılmaz Yıldız, Saadet Mercimek‐Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung‐Klawitter, Kathrin Jeltsch, Serap Sivri, Sven F. Garbade, Àngels García‐Cazorla, Thomas Opladen

    Published 2024
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications

    Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications by Anna N. Ligezka, Silvia Radenkovic, Mayank Saraswat, Kishore Garapati, Wasantha Ranatunga, Wirginia Krzyściak, Hitoshi Yanaihara, Graeme Preston, William Brucker, Renee M. McGovern, Joel M. Reid, David Cassiman, Karthik Muthusamy, Christin Johnsen, Saadet Mercimek‐Andrews, Austin Larson, Christina Lam, Andrew C. Edmondson, Bart Ghesquière, Peter Witters, Kimiyo Raymond, Devin Oglesbee, Akhilesh Pandey, Ethan Perlstein, Tamás Kozicz, Éva Morava

    Published 2021
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons by Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Léonard Hérault, Stéphane Gaillard, Emilie Pallesi‐Pocachard, Aurélie Montheil, Andreas Bosio, Jill A. Rosenfeld, Eva Hudson, Kristin Lindstrom, Saadet Mercimek‐Andrews, Lauren Jeffries, Arie van Haeringen, Olivier Vanakker, Audrey Van Hecke, Dina Amrom, Sébastien Küry, Chana Ratner, Reena Jethva, Candace Gamble, Bernard Jacq, Laurent Fasano, Gabriel Santpere, Belén Lorente-Galdós, Nenad Šestan, A. Gélot, Sylvie Giacuzz, Sandra Goebbels, Alfonso Represa, Carlos Cardoso, Harold Cremer, Antoine de Chevigny

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

    Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy by Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx, Fred A. M. G. van Geenen, Arno van Rooij, Giel Berden, Marleen C.D.G. Huigen, Leo A. J. Kluijtmans, Tessa M. A. Peters, Hilal H. Al-Shekaili, Blair R. Leavitt, Erik de Vrieze, Sanne Broekman, Erwin van Wijk, Laura A. Tseng, Purva Kulkarni, Floris P. J. T. Rutjes, Jasmin Mecinović, Eduard A. Struys, Laura A. Jansen, Sídney M. Gospe, Saadet Mercimek‐Andrews, Keith Hyland, Michèl A.A.P. Willemsen, Levinus A. Bok, Clara D.M. van Karnebeek, Ron A. Wevers, Thomas J. Boltje, Jos Oomens, Jonathan Martens, Karlien L. M. Coene

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test by Anath C. Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S. Reuter, S. Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam, Giovanna Pellecchia, Wilson W. L. Sung, Zhuozhi Wang, Peter Bikangaga, Cyrus Boelman, Melissa T. Carter, Dawn Cordeiro, Cheryl Cytrynbaum, Sharon Dell, Priya Dhir, James J. Dowling, Elise Héon, Stacy Hewson, Linda T. Hiraki, Michal Inbar‐Feigenberg, Regan Klatt, Jonathan B. Kronick, Ronald M. Laxer, Christoph Licht, H. Robson MacDonald, Saadet Mercimek‐Andrews, Roberto Mendoza‐Londono, Tino D. Piscione, Rayfel Schneider, Andreas Schulze, Earl D. Silverman, Komudi Siriwardena, O. Carter Snead, Neal Sondheimer, Joanne Sutherland, Ajoy Vincent, Jonathan D. Wasserman, Rosanna Weksberg, Cheryl Shuman, Chris Carew, Michael J. Szego, Robin Z. Hayeems, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Sarah Bowdin, M. Stephen Meyn, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

    Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W.M. van Bon, Tuula Rinne, Servi J.C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Long Min, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Paweł Stankiewicz, Kristin Herman, Saadet Mercimek‐Andrews, Jane Juusola, Amy Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gécz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia Bijlsma, Mariette J. V. Hoffer, Claudia Ruivenkamp, Stefano Sartori, Fan Xia, Jill Rosenfeld, Raphael Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P.A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder by Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy by Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt‐Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynn M Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Luis F Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Saga Elise Eiset, Paul R. Mark, Mercelo R Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rie szlig, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie A. Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan

    Published 2019
    Get full text Get full text
    Pré-impressão
    Save to List
    Saved in:
  13. 13
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello‐Burri, Alice Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carré, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Démurger, James J. Dowling, Bénédicte Duban‐Bedu, Christèle Dubourg, Saga Elise Eiset, Luis Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raúl Jiménez Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lü, Saskia M. Maas, Gustavo Maegawa, Carlo Marcelis, Paul R. Mark, Marcelo Rodrigues Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek‐Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez‐Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Hélio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Žák, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling by Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: