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Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
View ORCID ProfileJessica X. Chong, View ORCID ProfileJared C. Talbot, Emily M. Teets, Samantha Previs, View ORCID ProfileBrit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh-Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben-Omran, Fatima Almusafri, Mariam Al-Mulla, Kati J. Buckingham, Tamar Harel, Hagar Mor-Shaked, Periyasamy Radhakrishnan, Katta M Girisha, Shalini S. Nayak, Anju Shukla, View ORCID ProfileKlaus Dieterich, Julien Faure, John Rendu, Yline Capri, View ORCID ProfileXenia Latypova, Deborah A. Nickerson, View ORCID ProfileDavid Warshaw, Paul M. Janssen, University of Washington Center for Mendelian Genomics, View ORCID ProfileSharon L. Amacher, View ORCID ProfileMichael J. Bamshad
doi: https://doi.org/10.1101/2020.05.06.071555
Jessica X. Chong
1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
2Brotman-Baty Institute, Seattle, WA, USA
Jared C. Talbot
3Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA
4Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA
22School of Biology and Ecology, University of Maine, Orono, ME 04469, USA
Emily M. Teets
3Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA
Samantha Previs
5Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
Brit L. Martin
6Department of Physiology and Cell Biology, The Ohio State University, Columbus OH 43210, USA
Kathryn M. Shively
1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Colby T. Marvin
1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Arthur S. Aylsworth
7Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC, USA
Reem Saadeh-Haddad
8Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington DC, USA
Ulrich A. Schatz
9Human Genetics, Medical University, Innsbruck, Austria
Francesca Inzana
10Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy
Tawfeg Ben-Omran
11Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar
Fatima Almusafri
11Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar
Mariam Al-Mulla
11Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Doha, Qatar
Kati J. Buckingham
1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Tamar Harel
12Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Hagar Mor-Shaked
12Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Periyasamy Radhakrishnan
13Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Katta M Girisha
13Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Shalini S. Nayak
13Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Anju Shukla
13Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Klaus Dieterich
14Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble, France
15Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble, France
Julien Faure
15Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble, France
16Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble, France
John Rendu
15Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble, France
16Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble, France
Yline Capri
17Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris, France
Xenia Latypova
15Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble, France
16Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble, France
Deborah A. Nickerson
2Brotman-Baty Institute, Seattle, WA, USA
18Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
David Warshaw
5Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
Paul M. Janssen
6Department of Physiology and Cell Biology, The Ohio State University, Columbus OH 43210, USA
Sharon L. Amacher
3Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA
4Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA
19Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus OH 43210 USA
20Center for RNA Biology, The Ohio State University, Columbus OH 43210, USA
Michael J. Bamshad
1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
2Brotman-Baty Institute, Seattle, WA, USA
18Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
21Seattle Children’s Hospital, Seattle, WA 98105, USA
MD
Posted May 08, 2020.
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
Jessica X. Chong, Jared C. Talbot, Emily M. Teets, Samantha Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh-Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben-Omran, Fatima Almusafri, Mariam Al-Mulla, Kati J. Buckingham, Tamar Harel, Hagar Mor-Shaked, Periyasamy Radhakrishnan, Katta M Girisha, Shalini S. Nayak, Anju Shukla, Klaus Dieterich, Julien Faure, John Rendu, Yline Capri, Xenia Latypova, Deborah A. Nickerson, David Warshaw, Paul M. Janssen, University of Washington Center for Mendelian Genomics, Sharon L. Amacher, Michael J. Bamshad
bioRxiv 2020.05.06.071555; doi: https://doi.org/10.1101/2020.05.06.071555
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis
Jessica X. Chong, Jared C. Talbot, Emily M. Teets, Samantha Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh-Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben-Omran, Fatima Almusafri, Mariam Al-Mulla, Kati J. Buckingham, Tamar Harel, Hagar Mor-Shaked, Periyasamy Radhakrishnan, Katta M Girisha, Shalini S. Nayak, Anju Shukla, Klaus Dieterich, Julien Faure, John Rendu, Yline Capri, Xenia Latypova, Deborah A. Nickerson, David Warshaw, Paul M. Janssen, University of Washington Center for Mendelian Genomics, Sharon L. Amacher, Michael J. Bamshad
bioRxiv 2020.05.06.071555; doi: https://doi.org/10.1101/2020.05.06.071555
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