Rezultaty - Francisca Millan

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  1. 1
    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features od Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz, Nicholas Katsanis

    Wydane 2018
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  2. 2
    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features od Kellaris, Georgios, Khan, Kamal, Baig, Shahid M., Tsai, I-Chun, Zamora, Francisca Millan, Ruggieri, Paul, Natowicz, Marvin R., Katsanis, Nicholas

    Wydane 2018
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  3. 3
    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

    Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features od Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie I. Nesbitt, Holly Dubbs, Elaine H. Zackai, Michael Parker, Francisca Millan, Kenneth N. Rosenbaum, Golder N. Wilson, Ann Nordgren

    Wydane 2015
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  4. 4
    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

    Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder od Peter Huppke, Susann Weißbach, Joseph A. Church, Rhonda E. Schnur, Martina Krusen, Steffi Dreha‐Kulaczewski, W. Nikolaus Kühn‐Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner

    Wydane 2017
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  5. 5
    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly

    De novo <i>POGZ</i> mutations are associated with neurodevelopmental disorders and microcephaly od Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben‐Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veronique Weinstein, Hilary J. Vernon, Rebecca McClellan, Vidya Krishnamurthy, Patrik Vitazka, Francisca Millan, Wendy K. Chung

    Wydane 2015
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  6. 6
    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

    Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases od Rebecca I. Torene, María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens, Elizabeth M. Heise, Karen Chong, Richard Sidlow, Lauren O’Grady, Inderneel Sahai, Christa Lese Martin, David H. Ledbetter, Scott M. Myers, Kevin J. Mitchell, Kyle Retterer

    Wydane 2023
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  7. 7
    Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

    Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy od Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Zghal Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin J. Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa Lese Martin

    Wydane 2021
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  8. 8
    Clinical application of whole-exome sequencing across clinical indications

    Clinical application of whole-exome sequencing across clinical indications od Kyle Retterer, Jane Juusola, Megan T. Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G. Monaghan, Dianalee McKnight, Renkui Bai, Sharon F. Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda‐Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K. Chung, Sherri J. Bale

    Wydane 2015
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  9. 9
    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia

    De novo missense variants in<i>HECW2</i>are associated with neurodevelopmental delay and hypotonia od Esther R. Berko, Megan T. Cho, Christine M. Eng, Yunru Shao, David A. Sweetser, Jessica L. Waxler, Nathaniel H. Robin, Fallon Brewer, Sandra Donkervoort, Payam Mohassel, Carsten G. Bönnemann, Martin G. Bialer, Christine Moore, Lynne A. Wolfe, Cynthia J. Tifft, Yufeng Shen, Kyle Retterer, Francisca Millan, Wendy K. Chung

    Wydane 2016
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  10. 10
    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

    Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss od Akemi Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo D. Garnica, Edward S. Gratz, Matthew A. Deardorff, Alisha Wilkins, Xilma R. Ortiz‐González, Katherine D. Mathews, Karin Panzer, Eva H. Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

    Wydane 2015
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  11. 11
    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

    Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy od D T Burns, Sandra Donkervoort, Juliane Müller, Ellen Knierim, Diana Bharucha‐Goebel, Eissa Faqeih, Stephanie Bell, Abdullah Alfaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S. Alkuraya, Peter B. Kang, Helen Griffin, A. Reghan Foley, Markus Schuelke, Rita Horváth, Carsten G. Bönnemann

    Wydane 2018
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  12. 12
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants od Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Wydane 2018
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  13. 13
    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

    The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations od Chun‐An Chen, Daniëlle G.M. Bosch, Megan T. Cho, Jill A. Rosenfeld, Marwan Shinawi, Richard A. Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence E. Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G. Monaghan, Frances Elmslie, Ganka Douglas, F. Nienke Boonstra, Francisca Millan, Frans P.M. Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane‐Yeboa, Elfrida Malkin, Wendy K. Chung, Dmitriy Niyazov, Juan M. Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M. Hisama, Bert B.A. de Vries, Christian P. Schaaf

    Wydane 2016
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  14. 14
    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy od Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Barañano, Jessica Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard Person, Ange-Line Bruel, Christel Thauvin‐Robinet, Athina Ververi, Catherine DeVile, Alison Male, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

    Wydane 2020
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  15. 15
    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> od Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren A. Marks, Lydie Bürglen, Diane Demailly, Phillipe Coubes, Mayté Castro Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Németh, Martin A. Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Béroud, Fernando Delgado Acosta, C. Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

    Wydane 2022
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  16. 16
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature od Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    Wydane 2018
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  17. 17
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies od Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Wydane 2019
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  18. 18
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease od Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    Wydane 2023
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  19. 19
    Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

    Mutations disrupting neuritogenesis genes confer risk for cerebral palsy od Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C. Sierant, Sheetal Shetty, Sandra M. Nordlie, Aureliane Elie, Mark Corbett, Bethany Y. Norton, Clare L. van Eyk, Shozeb Haider, Brandon S. Guida, Helen Magee, James H. Liu, Stephen F. Pastore, John B. Vincent, Janice Brunstrom-Hernandez, Antigone Papavasileiou, Michael Fahey, Jesia G. Berry, Kelly Harper, Chongchen Zhou, Junhui Zhang, Boyang Li, Hongyu Zhao, Jennifer Heim, Dani L. Webber, Mahalia S. B. Frank, Lei Xia, Yiran Xu, Dengna Zhu, Bohao Zhang, Amar H. Sheth, James Knight, Christopher Castaldi, Irina R. Tikhonova, Francesc López‐Giráldez, Boris Keren, Sandra Whalen, Julien Buratti, Diane Doummar, Megan Cho, Kyle Retterer, Francisca Millan, Yangong Wang, Jeff L. Waugh, Lance H. Rodan, Julie S. Cohen, Ali Fatemi, Angela E. Lin, J. P. Phillips, Timothy Feyma, Suzanna C. MacLennan, Spencer Vaughan, Kylie Crompton, Susan Reid, Dinah Reddihough, Qing Shang, Chao Gao, Iona Novak, Nadia Badawi, Yana A. Wilson, Sarah McIntyre, Shrikant Mane, Xiaoyang Wang, David J. Amor, Daniela C. Zarnescu, Qiongshi Lu, Qinghe Xing, Changlian Zhu, Kaya Bilgüvar, Sergio Padilla-López, Richard P. Lifton, Jozef Gécz, Alastair H. MacLennan, Michael C. Kruer

    Wydane 2020
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  20. 20
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants od Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    Wydane 2022
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