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edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@612679d6 Item: Title: Variant Filtering and Interpretation with the URD-Cat GPAP Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@11758f2a Item: Title: Statistical Analysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@e720b71 Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1b26f7b2 Children: Item: Title: Systematic Evaluation of the Reanalysis Cohort Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@491cc5c9 Item: Title: Molecular Diagnosis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@74ad1f1f Item: Title: Effect of the Sequencing Strategy on the Diagnostic Rate Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6a1aab78 Item: Title: Quality of Standardized Phenotyping Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@462d5aee Item: Title: Reasons for Increasing the Diagnostic Rate with Data Reanalysis Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@69b0fd6f Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@757942a1 Item: Title: Acknowledgments Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4a87761d Item: Title: Author Contributions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@66d1af89 Item: Title: Supplemental Data Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@8646db9 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@37374a5e Info: Title: Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Author: Gemma Bullich Subject: The Journal of Molecular Diagnostics, 24 (2022) 529-542. doi:10.1016/j.jmoldx.2022.02.003 Creator: Elsevier Producer: Acrobat Distiller 8.0.0 (Windows) ID: 0xf05b631ca0daadc5cf04ffcf765ceb44, 0x70c10f2587ef54428dc65751d61b8d28 Filters: 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true FirstChar: 60 LastChar: 62 FontDescriptor: FontName: GGFIFK+AdvP4C4E51 Flags: Nonsymbolic FontBBox: -31, -239, 1041, 750 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: GGFIGL+AdvPS480274 FontSubset: true FirstChar: 45 LastChar: 45 FontDescriptor: FontName: GGFIGL+AdvPS480274 Flags: Nonsymbolic FontBBox: 0, -208, 1354, 791 FontFile3: true Encoding: WinAnsiEncoding Font: BaseFont: GGFHLH+AdvP4C4E59 FontSubset: true FirstChar: 1 LastChar: 3 FontDescriptor: FontName: GGFHLH+AdvP4C4E59 Flags: Symbolic FontBBox: -31, -250, 1000, 750 FontFile3: true EncodingDictionary: Differences: true Font: BaseFont: GGFHNJ+AdvPSSym FontSubset: true FirstChar: 170 LastChar: 170 FontDescriptor: FontName: GGFHNJ+AdvPSSym Flags: Nonsymbolic FontBBox: -177, -291, 1083, 1010 FontFile3: true Encoding: WinAnsiEncoding XMP: application/pdf doi:10.1016/j.jmoldx.2022.02.003 Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases Gemma Bullich Leslie Matalonga Montserrat Pujadas Anastasios Papakonstantinou Davide Piscia Raúl Tonda Rafael Artuch Pia Gallano Glòria Garrabou Juan R. González Daniel Grinberg Míriam Guitart Steven Laurie Conxi Lázaro Cristina Luengo Ramon Martí Montserrat Milà David Ovelleiro Genís Parra Aurora Pujol Eduardo Tizzano Alfons Macaya Francesc Palau Antònia Ribes Luis A. Pérez-Jurado Sergi Beltran Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium Agatha Schlüter Agustí Rodriguez-Palmero Alejandro Cáceres Andrés Nascimento Àngels García-Cazorla Anna Cueto-González Anna Marcé-Grau Anna Ruiz Nel.lo Antonio Martínez-Monseny Aurora Sànchez Belén García Belén Pérez-Dueñas Bernat Gel Berta Fusté Carles Hernández-Ferrer Carlos Casasnovas Carlos Ortez César Arjona Cristina Hernando-Davalillo Daniel Natera de Benito Daniel Picó Amador David Gómez-Andrés Dèlia Yubero Dolors Pelegrí-Sisó Edgard Verdura Elena García-Arumí Elisabeth Castellanos Elisabeth Gabau Ester Tobías Fermina López-Grondona Francesc Cardellach Francesc Josep Garcia-Garcia Francina Munell Frederic Tort Gemma Aznar Gemma Olivé-Cirera Gemma Tell Gerard Muñoz-Pujol Ida Paramonov Ignacio Blanco Irene Madrigal Irene Valenzuela Ivo Gut Ivon Cusco Jean-Rémi Trotta Jordi Cruz Jordi Díaz-Manera José César Milisenda Josep Ma Grau Judit Garcia-Villoria Judith Armstrong Judith Cantó Júlia Sala-Coromina Laia Rodríguez-Revenga Laura Alias Laura Gort Lídia González-Quereda Mar Costa Marcos Fernández-Callejo Marcos López-Sánchez Maria Isabel Álvarez-Mora Marta Gut Mercedes Serrano Miquel Raspall-Chaure Mireia del Toro Mònica Bayés Neus Baena Díez Nino Spataro Núria Capdevila Olatz Ugarteburu Patricia Muñoz-Cabello Penélope Romero Duque Raquel Rabionet Ricard Rojas-García Rosa Calvo Roser Urreizti Sara Bernal Susana Boronat Susanna Balcells Teresa Vendrell The Journal of Molecular Diagnostics, 24 (2022) 529-542. doi:10.1016/j.jmoldx.2022.02.003 Association for Molecular Pathology and American Society for Investigative Pathology journal The Journal of Molecular Diagnostics © 2022 Association for Molecular Pathology and American Society for Investigative Pathology. 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Subtype: Link Rect: 461, 378, 472, 386 Annotation: Subtype: Link Rect: 326, 368, 546, 376 Annotation: Subtype: Link Rect: 326, 358, 546, 366 Annotation: Subtype: Link Rect: 326, 348, 392, 356 Annotation: Subtype: Link Rect: 398, 348, 410, 356 Annotation: Subtype: Link Rect: 326, 338, 546, 346 Annotation: Subtype: Link Rect: 326, 328, 546, 336 Annotation: Subtype: Link Rect: 326, 318, 471, 326 Annotation: Subtype: Link Rect: 477, 318, 485, 326 Annotation: Subtype: Link Rect: 326, 308, 546, 316 Annotation: Subtype: Link Rect: 326, 298, 546, 306 Annotation: Subtype: Link Rect: 326, 288, 546, 296 Annotation: Subtype: Link Rect: 326, 278, 546, 286 Annotation: Subtype: Link Rect: 326, 268, 546, 276 Annotation: Subtype: Link Rect: 326, 258, 529, 266 Annotation: Subtype: Link Rect: 326, 248, 546, 256 Annotation: Subtype: Link Rect: 326, 238, 546, 246 Annotation: Subtype: Link Rect: 326, 228, 478, 236 Annotation: Subtype: Link Rect: 484, 228, 496, 236 Annotation: Subtype: Link Rect: 326, 218, 546, 226 Annotation: Subtype: Link Rect: 326, 208, 546, 216 Annotation: Subtype: Link Rect: 326, 198, 546, 206 Annotation: Subtype: Link Rect: 326, 188, 546, 196 Annotation: Subtype: Link Rect: 326, 178, 546, 186 Annotation: Subtype: Link Rect: 326, 168, 546, 176 Annotation: Subtype: Link Rect: 326, 158, 373, 166 Annotation: Subtype: Link Rect: 379, 158, 394, 166 Annotation: Subtype: Link Rect: 326, 148, 546, 156 Annotation: Subtype: Link Rect: 326, 138, 546, 146 Annotation: Subtype: Link Rect: 326, 128, 546, 136 Annotation: Subtype: Link Rect: 326, 119, 546, 126 Annotation: Subtype: Link Rect: 326, 109, 434, 117 Annotation: Subtype: Link Rect: 440, 109, 456, 117 Annotation: Subtype: Link Rect: 326, 99, 546, 107 Annotation: Subtype: Link Rect: 326, 89, 546, 97 Annotation: Subtype: Link Rect: 326, 79, 546, 87 Annotation: Subtype: Link Rect: 326, 69, 546, 77 Annotation: Subtype: Link Rect: 326, 59, 474, 67 Annotation: Subtype: Link Rect: 480, 59, 492, 67 Annotation: Subtype: Link Rect: 209, 18, 268, 28 Page: Label: 542 Sequence: 14 Annotations: Annotation: Subtype: Link Rect: 56, 716, 276, 724 Annotation: Subtype: Link Rect: 56, 706, 276, 714 Annotation: Subtype: Link Rect: 56, 696, 276, 704 Annotation: Subtype: Link Rect: 56, 686, 259, 694 Annotation: Subtype: Link Rect: 265, 686, 276, 694 Annotation: Subtype: Link Rect: 56, 676, 276, 684 Annotation: Subtype: Link Rect: 56, 666, 276, 674 Annotation: Subtype: Link Rect: 56, 657, 276, 665 Annotation: Subtype: Link Rect: 56, 647, 276, 655 Annotation: Subtype: Link Rect: 56, 637, 276, 645 Annotation: Subtype: Link Rect: 56, 627, 131, 635 Annotation: Subtype: Link Rect: 137, 627, 153, 635 Annotation: Subtype: Link Rect: 56, 617, 276, 625 Annotation: Subtype: Link Rect: 56, 607, 276, 615 Annotation: Subtype: Link Rect: 56, 597, 276, 605 Annotation: Subtype: Link Rect: 56, 587, 276, 595 Annotation: Subtype: Link Rect: 56, 577, 276, 585 Annotation: Subtype: Link Rect: 56, 567, 137, 575 Annotation: Subtype: Link Rect: 143, 567, 155, 575 Annotation: Subtype: Link Rect: 56, 557, 276, 565 Annotation: Subtype: Link Rect: 56, 547, 276, 555 Annotation: Subtype: Link Rect: 56, 537, 276, 545 Annotation: Subtype: Link Rect: 56, 527, 276, 535 Annotation: Subtype: Link Rect: 56, 517, 276, 525 Annotation: Subtype: Link Rect: 56, 507, 276, 515 Annotation: Subtype: Link Rect: 56, 497, 276, 505 Annotation: Subtype: Link Rect: 56, 487, 276, 495 Annotation: Subtype: Link Rect: 56, 477, 225, 485 Annotation: Subtype: Link Rect: 231, 477, 243, 485 Annotation: Subtype: Link Rect: 56, 467, 276, 475 Annotation: Subtype: Link Rect: 56, 457, 276, 465 Annotation: Subtype: Link Rect: 56, 447, 276, 455 Annotation: Subtype: Link Rect: 56, 437, 276, 445 Annotation: Subtype: Link Rect: 56, 427, 276, 435 Annotation: Subtype: Link Rect: 56, 417, 124, 425 Annotation: Subtype: Link Rect: 130, 417, 146, 425 Annotation: Subtype: Link Rect: 56, 407, 276, 415 Annotation: Subtype: Link Rect: 56, 397, 276, 405 Annotation: Subtype: Link Rect: 319, 716, 539, 724 Annotation: Subtype: Link Rect: 319, 706, 539, 714 Annotation: Subtype: Link Rect: 319, 696, 539, 704 Annotation: Subtype: Link Rect: 319, 686, 539, 694 Annotation: Subtype: Link Rect: 319, 676, 380, 684 Annotation: Subtype: Link Rect: 386, 676, 393, 684 Annotation: Subtype: Link Rect: 319, 666, 539, 674 Annotation: Subtype: Link Rect: 319, 657, 539, 665 Annotation: Subtype: Link Rect: 319, 647, 539, 655 Annotation: Subtype: Link Rect: 319, 637, 539, 645 Annotation: Subtype: Link Rect: 319, 627, 539, 635 Annotation: Subtype: Link Rect: 319, 617, 539, 625 Annotation: Subtype: Link Rect: 319, 607, 497, 615 Annotation: Subtype: Link Rect: 319, 597, 539, 605 Annotation: Subtype: Link Rect: 319, 587, 539, 595 Annotation: Subtype: Link Rect: 319, 577, 539, 585 Annotation: Subtype: Link Rect: 319, 567, 354, 575 Annotation: Subtype: Link Rect: 319, 557, 539, 565 Annotation: Subtype: Link Rect: 319, 547, 539, 555 Annotation: Subtype: Link Rect: 319, 537, 539, 545 Annotation: Subtype: Link Rect: 319, 527, 539, 535 Annotation: Subtype: Link Rect: 319, 517, 404, 525 Annotation: Subtype: Link Rect: 410, 517, 426, 525 Annotation: Subtype: Link Rect: 319, 507, 539, 515 Annotation: Subtype: Link Rect: 319, 497, 539, 505 Annotation: Subtype: Link Rect: 319, 487, 349, 495 Annotation: Subtype: Link Rect: 355, 487, 371, 495 Annotation: Subtype: Link Rect: 319, 477, 539, 485 Annotation: Subtype: Link Rect: 319, 467, 539, 475 Annotation: Subtype: Link Rect: 319, 457, 539, 465 Annotation: Subtype: Link Rect: 319, 447, 539, 455 Annotation: Subtype: Link Rect: 319, 437, 463, 445 Annotation: Subtype: Link Rect: 469, 437, 485, 445 Annotation: Subtype: Link Rect: 319, 427, 539, 435 Annotation: Subtype: Link Rect: 319, 417, 539, 425 Annotation: Subtype: Link Rect: 319, 407, 539, 415 Annotation: Subtype: Link Rect: 319, 397, 507, 405 Annotation: Subtype: Link Rect: 513, 397, 521, 405 Annotation: Subtype: Link Rect: 316, 18, 375, 28 Checksum: 6ad2f8a2 Type: CRC32 Checksum: af956a43ef17fde521c5370ced23d02f Type: MD5 Checksum: 23ea7beda57d656736e3f2201a346b913d09760f Type: SHA-1