Resultados de procura - Caitlin Reavey

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  1. 1
    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

    Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants por Tracy Brandt, Laura M. Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora Jh Bean, Arunkanth Ankala, Daniela del Gaudio, Amy Knight Johnson, Lisa M. Vincent, Caitlin Reavey, Amy Lai, Gabriele Richard, Jeanne Meck

    Publicado 2019
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  2. 2
    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

    Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy por 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

    Publicado 2019
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  3. 3
    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy por 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

    Publicado 2019
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