Sökresultat - Emily O’Heir

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  1. 1
    Evidence Aggregator: AI reasoning applied to rare disease diagnostics

    Evidence Aggregator: AI reasoning applied to rare disease diagnostics av Hope Twede, Ashley Mae Conard, Lynn Pais, Samantha J. Bryen, Emily O’Heir, Gregory G. Smith, Ron Paulsen, Christina A Austin-Tse, Alex Bloemendal, Cas Simons, Scott Saponas, Jeremiah D. Wander, Daniel G. MacArthur, Heidi L. Rehm

    Publicerad 2025
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  2. 2
    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics av Lynn Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia, Emily O’Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael W. Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O’Leary, Alysia Kern Lovgren, Lawrence Babb, Christina Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    Publicerad 2022
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  3. 3
    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy av Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    Publicerad 2021
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  4. 4
    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

    Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases av Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei‐Owusu, Lynn Pais, Emily O’Heir, Christina Austin‐Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Göknur Haliloğlu, Eric A. Pierce, Emily Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Éric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicerad 2025
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  5. 5
    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

    Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease av Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria

    Publicerad 2024
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  6. 6
    Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

    Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project av Sarah L. Stenton, Melanie O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei‐Owusu, Lynn Pais, Jillian Serrano, Moriel Singer‐Berk, Ben Weisburd, Michael W. Wilson, Christina Austin‐Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O.B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, M. Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda M. Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicerad 2024
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  7. 7
    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy av Ana Töpf, Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini‐Bettolo, Jordi Díaz‐Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina England, Jane Patrick, Sundos Al-Husayni, Valérie Biancalana, Alan H. Beggs, István Bódi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik‐Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell‐Luria, Narumi Ogonuki, Gina O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace E. VanNoy, Nicol C. Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vílchez, Daniel G. MacArthur, Anna Sárközy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch‐Nentwich, Francesco Muntoni, Volker Straub

    Publicerad 2024
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  8. 8
    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations av Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar‐Yosef, Frédéric Bilan, Kathrine Bjørgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean‐Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O’Heir, Xilma R. Ortiz‐González, Marta Pacio‐Míguez, María Palomares‐Bralo, Loren D.M. Peña, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet‐Perez, Avni Santani, Fernando Santos‐Simarro, Ben Pode‐Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti‐Furga, Isabelle Thiffault, Richard H. van Jaarsveld, Marie Vincent, Hong‐Gang Wang, Pia Zacher, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith

    Publicerad 2021
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  9. 9
    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death av Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville

    Publicerad 2023
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