检索结果 - Klaus Schmitz‐Abe

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  1. 1
    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

    LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure 由 Lisa G. Riley, Joëlle Rudinger‐Thirion, Klaus Schmitz‐Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo, Susan Arbuckle, Sandra T. Cooper, Dean R. Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M. Sue, Mark D. Fleming, John Christodoulou

    出版 2015
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  2. 2
    A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma

    A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma 由 Hani Harb, Emmanuel Stephen‐Victor, Elena Crestani, Mehdi Benamar, Amir Hossein Massoud, Ye Cui, Louis‐Marie Charbonnier, Sena Arbag, Safa Barış, Amparito Cunnigham, Juan Manuel Leyva-Castillo, Raif S. Geha, Amirhosein Mousavi, Boris Guennewig, Klaus Schmitz‐Abe, Constantinos Sioutas, Wanda Phipatanakul, Talal A. Chatila

    出版 2020
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  3. 3
    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

    Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes 由 Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden, Casie A. Genetti, Monica H. Wojcik, Sadhana Ponnaluri, Cynthia S. Gubbels, Jonathan Picker, Anne O’Donnell‐Luria, Timothy W. Yu, Olaf A. Bodamer, Catherine A. Brownstein, Alan H. Beggs, Pankaj B. Agrawal

    出版 2019
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  4. 4
    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

    Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy 由 Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo, Klaus Schmitz‐Abe, Elizabeth T. DeChene, Lindsay C. Swanson, Rachel Soemedi, Nasim Vasli, Susan T. Iannaccone, Perry B. Shieh, Natasha Shur, Jane M. Dennison, Michael W. Lawlor, Jocelyn Laporte, Kyriacos Markianos, William G. Fairbrother, Henk Granzier, Alan H. Beggs

    出版 2013
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  5. 5
    ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

    ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis 由 Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, Donna M. Brown, Klaus Schmitz‐Abe, Kelly Schoch, Heidi Cope, Rebecca Signer, Julián A. Martínez-Agosto, Vandana Shashi, Alan H. Beggs, Matthew T. Wheeler, Jonathan A. Bernstein, Gill Bejerano

    出版 2018
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  6. 6
    Loss of PCLO function underlies pontocerebellar hypoplasia type III

    Loss of PCLO function underlies pontocerebellar hypoplasia type III 由 Momin Ahmed, Barry A. Chioza, Anna Rajab, Klaus Schmitz‐Abe, Aisha Al‐Khayat, Saeed Al-Turki, Emma L. Baple, Michael A. Patton, A. Al‐Memar, Matthew E. Hurles, Jennifer N. Partlow, Robert Hill, Gilad D. Evrony, Sarah Servattalab, Kyriacos Markianos, Christopher A. Walsh, Andrew H. Crosby, Ganeshwaran H. Mochida

    出版 2015
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  7. 7
    X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

    X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations 由 Dean R. Campagna, Charlotte I. de Bie, Klaus Schmitz‐Abe, Marion Sweeney, Anoop K. Sendamarai, Paul J. Schmidt, Matthew M. Heeney, Helger G. Yntema, Caroline Kannengiesser, Bernard Grandchamp, Charlotte M. Niemeyer, Nine Knoers, Sonia Swart, Gordon Marron, Richard van Wijk, Reinier Raymakers, Alison May, Kyriacos Markianos, Sylvia S. Bottomley, Dorine W. Swinkels, Mark D. Fleming

    出版 2013
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  8. 8
    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination 由 Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen‐Hann Tan, Ramzi Nasir, Klaus Schmitz‐Abe, Robert Hill, Jennifer N. Partlow, Muna Al‐Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Górski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida

    出版 2015
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  9. 9
    Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

    Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity 由 Michel J. Massaad, Jia Zhou, Daisuke Tsuchimoto, Janet Chou, Haifa H. Jabara, Erin Janssen, Salomé Glauzy, Brennan Olson, Henner Morbach, Toshiro K. Ohsumi, Klaus Schmitz‐Abe, Kyriacos Markianos, Jennifer Kane, Kumiko Torisu, Yusaku Nakabeppu, Luigi D. Notarangelo, Éliane Chouery, André Mégarbané, Peter B. Kang, Eman AlIdrissi, Hasan Al‐Dhekri, Eric Meffre, Masayuki Mizui, George C. Tsokos, John P. Manis, Waleed Al‐Herz, Susan S. Wallace, Raif S. Geha

    出版 2016
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  10. 10
    Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

    Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice 由 Inga Hofmann, Mitchell J. Geer, Timo Vögtle, Andrew Crispin, Dean R. Campagna, A. Barr, Monica L. Calicchio, Silke Heising, Johanna P. van Geffen, Marijke J. E. Kuijpers, Johan W. M. Heemskerk, Johannes A. Eble, Klaus Schmitz‐Abe, Esther A. Obeng, Michael R. Douglas, Kathleen Freson, Corinne Pondarré, Rémi Favier, Gavin E. Jarvis, Kyriacos Markianos, Ernest Turro, Willem H. Ouwehand, Alexandra Mazharian, Mark D. Fleming, Yotis A. Senis

    出版 2018
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  11. 11
    Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

    Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9 由 Klaus Schmitz‐Abe, Szymon J. Ciesielski, Paul J. Schmidt, Dean R. Campagna, Fedik Rahimov, Brenda Schilke, Marloes Cuijpers, Klaus Rieneck, Birgitte Lausen, Michael Linenberger, Anoop K. Sendamarai, Chaoshe Guo, Inga Hofmann, Peter E. Newburger, Dana C. Matthews, Akiko Shimamura, Pieter J.L.M. Snijders, Meghan C. Towne, Charlotte M. Niemeyer, Henry G. Watson, Morten Hanefeld Dziegiel, Matthew M. Heeney, Alison May, Sylvia S. Bottomley, Dorine W. Swinkels, Kyriacos Markianos, Elizabeth A. Craig, Mark D. Fleming

    出版 2015
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  12. 12
    Biallelic mutations in human DCC cause developmental split-brain syndrome

    Biallelic mutations in human DCC cause developmental split-brain syndrome 由 Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama, Marie Drottar, Wai‐Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N. Lam, Mauricio R. Delgado, Nancy J. Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A. Alorainy, Abdullah Abu Jamea, Khaled K. Abu‐Amero, May L. Griebel, Wendy L. Ward, Ed S. Lein, Kyriacos Markianos, A. James Barkovich, Caroline D. Robson, P. Ellen Grant, Thomas M. Bosley, Elizabeth C. Engle, Christopher A. Walsh, Timothy W. Yu

    出版 2017
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  13. 13
    Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections

    Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections 由 Hani Harb, Mehdi Benamar, Peggy S. Lai, Paola Contini, Jason W. Griffith, Elena Crestani, Klaus Schmitz‐Abe, Qian Chen, Jason Fong, Luca Marri, Gilberto Filaci, Genny Del Zotto, Novalia Pishesha, Stephen C. Kolifrath, Achille Broggi, Sreya Ghosh, Metin Yusuf Gelmez, Fatma Betül Öktelik, Esin Aktaş Çetin, Ayça Kıykım, Murat Köse, Ziwei Wang, Ye Cui, Xu G. Yu, Jonathan Z. Li, Lorenzo Berra, Emmanuel Stephen‐Victor, Louis‐Marie Charbonnier, Ivan Zanoni, Hidde L. Ploegh, Günnur Deniz, Raffaele De Palma, Talal A. Chatila

    出版 2021
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  14. 14
    Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

    Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) 由 Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy, Hapsatou Mamady, Thierry Naas, Danielle Durie, Dean R. Campagna, Ashley Lau, Anoop K. Sendamarai, Daniel H. Wiseman, Alison May, Stephen Jolles, Philip Connor, Colin Powell, Matthew M. Heeney, Patricia-Jane Giardina, Robert J. Klaassen, Caroline Kannengiesser, Isabelle Thuret, Alexis A. Thompson, Lino Marques, Stephen Hughes, Denise Bonney, Sylvia S. Bottomley, Robert Wynn, Ronald M. Laxer, Caterina P. Minniti, John Moppett, Victoria Bordon, Michael T. Geraghty, Paul B. M. Joyce, Kyriacos Markianos, Adam D. Rudner, Martin Holčı́k, Mark D. Fleming

    出版 2014
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  15. 15
    Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

    Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency 由 Burcu Kolukısa, Dilek Başer, Bengü Akçam, Jeffrey J. Danielson, Sevgi Bilgiç Eltan, Yeşim Haliloğlu, Asena Pınar Sefer, Royale Babayeva, Gamze Akgun, Louis‐Marie Charbonnier, Klaus Schmitz‐Abe, Yasemin Kendir Demirkol, Yu Zhang, Claudia Gonzaga‐Jauregui, Raúl Jiménez Heredia, Nurhan Kasap, Ayça Kıykım, Esra Yücel, Veysel Gök, Ekrem Ünal, Ayşenur Paç Kısaarslan, Serdar Nepesov, Gökhan Baysoy, Zerrin Önal, Gözde Yeşil, Tıraje Celkan, Haluk Çokuğraş, Yıldız Çamcıoğlu, Ahmet Eken, Kaan Boztuğ, Bernice Lo, Elif Karakoç-Aydıner, Helen C. Su, Ahmet Özen, Talal A. Chatila, Safa Barış

    出版 2021
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  16. 16
    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders 由 Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz‐Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch‐Hogrebe, Rami Abou Jamra, Juanita Neira‐Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, Lorne A. Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raúl Estévez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal

    出版 2021
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  17. 17
    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism 由 Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, Sarn Jiralerspong, Kazuko Okamura‐Ikeda, Bulent Ataman, Klaus Schmitz‐Abe, David A. Harmin, Mazhar Adli, Athar N. Malik, Alissa M. D’Gama, Elaine T. Lim, Stephan Sanders, Ganeshwaran H. Mochida, Jennifer N. Partlow, Christine Sunu, Jillian M. Felie, Jacqueline Rodriguez, Ramzi H. Nasir, Janice Ware, Robert M. Joseph, R. Sean Hill, Benjamin Y. M. Kwan, Muna Al‐Saffar, Nahit Motavallı Mukaddes, Asif Hashmi, Soher Balkhy, Generoso G. Gascon, Fuki M. Hisama, Elaine LeClair, Annapurna Poduri, Özgür Öner, Samira Al-Saad, S A Al-Awadi, Lailá Bastaki, Tawfeg Ben‐Omran, Ahmad S. Teebi, Lihadh Al‐Gazali, Valsamma Eapen, Christine Stevens, Leonard Rappaport, Stacey Gabriel, Kyriacos Markianos, Matthew W. State, Michael E. Greenberg, Hisaaki Taniguchi, Nancy Braverman, Eric M. Morrow, Christopher A. Walsh

    出版 2013
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  18. 18
    Dominant-negative mutations in human <i>IL6ST</i> underlie hyper-IgE syndrome

    Dominant-negative mutations in human <i>IL6ST</i> underlie hyper-IgE syndrome 由 Vivien Béziat, Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence, Jens Staal, Dominik Aschenbrenner, Lisa Roels, Lisa Worley, Kathleen Claes, Lisa Gartner, Lisa A. Kohn, Marieke De Bruyne, Klaus Schmitz‐Abe, Louis‐Marie Charbonnier, Sevgi Keleş, Justine Nammour, Natasha Vladikine, Majistor Raj Luxman Maglorius Renkilaraj, Yoann Seeleuthner, Mélanie Migaud, Jérémie Rosain, Mohamed Jeljeli, Bertrand Boisson, Eva Van Braeckel, Jill A. Rosenfeld, Hongzheng Dai, Lindsay C. Burrage, David R. Murdock, Bart N. Lambrecht, Véronique Avettand-Fènoël, Tiphanie P. Vogel, Charles R. Esther, Şule Haskoloğlu, Figen Doğu, Peter Čižnár, David Boutboul, O Marie, Jean Amourette, Marie‐Noëlle Lebras, Clément Gauvain, Colas Tchérakian, Aydan İkincioğulları, Rudi Beyaert, Laurent Abel, Joshua D. Milner, Bodo Grimbacher, Louis‐Jean Couderc, Manish J. Butte, Alexandra F. Freeman, É. Catherinot, Claire Fieschi, Talal A. Chatila, Stuart G. Tangye, Holm H. Uhlig, Filomeen Haerynck, Jean‐Laurent Casanova, Anne Puel

    出版 2020
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  19. 19
    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation 由 Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov, Anita Beck, Emily Farrow, Lisa Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel G. Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz‐Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary Kay Koenig, Madeline Graf, Alyssa A. Tran, Mercedes E. Alejandro, Brendan Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao‐Tuan Chao, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine

    出版 2020
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