Ngā hua rapu - Lisa A. Schimmenti

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  1. 1
    Renal coloboma syndrome

    Renal coloboma syndrome mā Lisa A. Schimmenti

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Renal‐coloboma syndrome: a multi‐system developmental disorder caused by <i>PAX2</i> mutations

    Renal‐coloboma syndrome: a multi‐system developmental disorder caused by <i>PAX2</i> mutations mā Michael R. Eccles, Lisa A. Schimmenti

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    A Primer for Morpholino Use in Zebrafish

    A Primer for Morpholino Use in Zebrafish mā Brent Bill, Andrew M. Petzold, Karl J. Clark, Lisa A. Schimmenti, Stephen C. Ekker

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
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  4. 4
    A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

    A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy mā Gabriella Silvestri, Filippo M. Santorelli, Sara Shanske, C B Whitley, Lisa A. Schimmenti, Sabrina Smith, S. DiMauro

    I whakaputaina 1994
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    TLR9 Polymorphisms Are Associated with Altered IFN-γ Levels in Children with Cerebral Malaria

    TLR9 Polymorphisms Are Associated with Altered IFN-γ Levels in Children with Cerebral Malaria mā Nadia A. Sam‐Agudu, J Greene, Robert O. Opoka, James W. Kazura, Michael J. Boivin, Peter A. Zimmerman, Melissa Riedesel, Tracy L. Bergemann, Lisa A. Schimmenti, Chandy C. John

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

    Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities mā Jorune Balciuniene, Ningping Feng, Kelly Iyadurai, Betsy Hirsch, Lawrence Charnas, Brent Bill, Mathew C. Easterday, Johan Staaf, LeAnn Oseth, Desiree Czapansky-Beilman, Dimitri Avramopoulos, George H. Thomas, Åke Borg, David Valle‐García, Lisa A. Schimmenti, Scott B. Selleck

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    <i>WNT5A</i> mutations in patients with autosomal dominant Robinow syndrome

    <i>WNT5A</i> mutations in patients with autosomal dominant Robinow syndrome mā Anthony Person, Soraya Beiraghi, Christine M. Sieben, Spencer Hermanson, Ann N. Neumann, Mara E. Robu, J. Robert Schleiffarth, Charles J. Billington, Hans van Bokhoven, Jeannette M. Hoogeboom, Juliana F. Mazzeu, Anna Petryk, Lisa A. Schimmenti, Han G. Brunner, Stephen C. Ekker, Jamie L. Lohr

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Genome-Wide Reverse Genetics Framework to Identify Novel Functions of the Vertebrate Secretome

    Genome-Wide Reverse Genetics Framework to Identify Novel Functions of the Vertebrate Secretome mā Michael A. Pickart, Eric W. Klee, Aubrey L. Nielsen, Sridhar Sivasubbu, Eric M. Mendenhall, Brent Bill, Eleanor Y. Chen, Craig E. Eckfeldt, Michelle Knowlton, Mara E. Robu, Jon D. Larson, Yun Deng, Lisa A. Schimmenti, Lynda B.M. Ellis, Catherine M. Verfaillie, Matthias Hammerschmidt, Steven Farber, Stephen C. Ekker

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

    Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss mā Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. Booth, Héla Azaiez, Andrew J. Griffith, Karen B. Avraham, Hannie Kremer, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases

    Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases mā Kathleen R. Bogart, Amanda R. Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang, Patti Engel, Jakub Tolar, Tim Schacker, Lisa A. Schimmenti, Nicole V. Brown, Kelly Morrison, T. D. Albright, Matt Klein, Julia Coleman, Karl Nelsen, Rae Blaylark, Karri LaFond, Sheldon Berkowitz, Kris Ann P. Schultz, Kerry Hansen, Soraya Beiraghi, Barbara J. Joers, David Tilstra, Amy Gaviglio, Lee Ann Jones, Abigail Miller, Jackie Foster

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) mā Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel DiGiacomo, Kara M. Masse, Sarah Kadzielski, Claire Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

    Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database mā Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe Birk Jensen, Pierre Cochat, Stéphane Decramer, Joanne Dixon, Régen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair G. W. Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz‐Amit, Eric A. Pierce, Emily Place, Nancy Rodig, Ann E. Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C. P. Schaafsma, Lawrence R. Shoemaker, David W. Stockton, Wen‐Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael R. Eccles, Lisa A. Schimmenti, Laurence Heidet

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

    Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel mā Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar‐Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret A. Kenna, John Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen‐Fu Cheng, Karen B. Avraham, Xin‐Hua Hu, Gema Garrido, Miguel A. Moreno‐Pelayo, John H. Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel‐Vanagaite, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad Abou Tayoun, Héla Azaiez, Kevin T. Booth, Richard J. Smith, Anne B.S. Giersch, Cynthia C. Morton, Xue Z. Liu, Mustafa Tekin, Yu Hong Lu, Huijun Yuan, Hideki Mutai, Lisa A. Schimmenti

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

    Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss mā Mayher Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, Héla Azaiez, Kevin T. Booth, Karen B. Avraham, Hannie Kremer, Andrew J. Griffith, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun, Sonia Abdelhak, John Alexander, Zippora Brownstein, Rachel Burt, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, John H. Greinwald, Jeffrey T. Holt, Makoto Hosoya, Un‐Kyung Kim, Ian D. Krantz, Suzanne M. Leal, Saber Masmoudi, Tatsuo Matsunaga, Matías Morin, Cynthia C. Morton, Hideki Mutai, Arti Pandya, Richard J. Smith, Mustafa Tekin, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Kejian Zhang

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

    ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs mā Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, Lisa A. Schimmenti, Mustafa Tekin, Heidi L. Rehm, Ahmad Abou Tayoun, Sami S. Amr, Sonia Abdelhak, John Alexander, Karen B. Avraham, Neha Bhatia, Donglin Bai, Nicole J. Boczek, Zippora Brownstein, Rachel Burt, Yasmin Bylstra, Ignacio del Castillo, Byung Yoon Choi, Lilian Downie, Thomas B. Friedman, Anne B.S. Giersch, Jasmine Goh, John H. Greinwald, Andrew J. Griffith, Amy Hernandez, Jeffrey T. Holt, Makoto Hosoya, Lim Jiin Ying, Kanika Jain, Un‐Kyung Kim, Hannie Kremer, Ian D. Krantz, Suzanne M. Leal, Morag A. Lewis, Xue Zhong Liu, Wendy Low, Yu Lu, Minjie Luo, Saber Masmoudi, Tan Ming, Miguel A. Moreno‐Pelayo, Matías Morin, Cynthia C. Morton, Jaclyn Murray, Hideki Mutai, Kiyomitsu Nara, Arti Pandya, Sylvia Kam Pei-Rong, Richard J. Smith, Lynette Pei‐Chi Shek, Funda Suer, Shin‐ichi Usami, Guy Van Camp, Kazuki Yamazawa, Huijun Yuan, Elizabeth Black-Zeigelbein, Keijan Zhang

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome mā Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome mā Sarah Stephenson, Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally Ann Lynch, Aditi Gupta, Kristen Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine Agre, Ilana Chilton, Wendy K. Chung, Anya Revah‐Politi, Ping Yee Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas‐Rothschild, Bruria Ben Zeev, Ortal Barel, Sébastien Moutton, Fanny Morice‐Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler L. Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange‐Line Bruel, Kerith‐Rae Dias, Carey‐Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua Baker, Ingrid E. Scheffer, Fiona Gardiner, Amy L. Schneider, Alison M. Muir, Heather C Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amélie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Goh, Christopher M. Richmond, David J. Amor, Jessica O. Boyce, Angela Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kāri Stefánsson, Hans T. Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline G. de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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