The Genomic Medicine Center at Children's Mercy was established in 2011. Among the first of its kind with a pediatric focus, the center provides clinical genomic services and is an epicenter for genomic research. Although our focus is sequencing and analysis of rare inherited diseases in children, plans are underway for expansion into a translational cancer genomics program and the use of pharmacogenomics in precision medicine.

The Genetics Clinic at Children's Mercy provides state-of-the-art evaluation, diagnosis, treatment and counseling for a variety of inherited conditions and chromosome disorders and genetic birth defects. The team includes physicians who are board-certified by the American Board of Medical Genetics and Genomics and genetic counselors.

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Works from 2020

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Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes., Manuela Battaglia, Simi Ahmed, Mark S. Anderson, Mark A. Atkinson, Dorothy Becker, Polly J. Bingley, Emanuele Bosi, Todd M. Brusko, Linda A. DiMeglio, Carmella Evans-Molina, Stephen E. Gitelman, Carla J. Greenbaum, Peter A. Gottlieb, Kevan C. Herold, Martin J. Hessner, Mikael Knip, Laura Jacobsen, Jeffrey P. Krischer, S Alice Long, Markus Lundgren, Eoin F. McKinney, Noel G. Morgan, Richard A. Oram, T Pastinen, Michael C. Peters, Alessandra Petrelli, Xiaoning Qian, Maria J. Redondo, Bart O. Roep, Desmond Schatz, David Skibinski, and Mark Peakman (Article)

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Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG)., Lora J H Bean, Birgit Funke, Colleen M. Carlston, Jennifer L. Gannon, Sibel Kantarci, Bryan L. Krock, Shulin Zhang, Pinar Bayrak-Toydemir, and ACMG Laboratory Quality Assurance Committee (Article)

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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve., Courtney D. Berrios, Catherine Koertje, Janelle R. Noel-Macdonnell PhD, Sarah E. Soden, and John Lantos (Article)

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Identification of functional regulatory elements in the human genome using pooled CRISPR screens., Samantha M. Borys and Scott T. Younger (Article)

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Immune checkpoint modulation enhances HIV-1 antibody induction., Todd Bradley, Masayuki Kuraoka, Chen-Hao Yeh, Ming Tian, Huan Chen, Derek W Cain, Xuejun Chen, Cheng Cheng, Ali H Ellebedy, Robert Parks, Maggie Barr, Laura L. Sutherland, Richard M. Scearce, Cindy M. Bowman, Hilary Bouton-Verville, Sampa Santra, Kevin Wiehe, Mark G. Lewis, Ane Ogbe, Persephone Borrow, David Montefiori, Mattia Bonsignori, M Anthony Moody, Laurent Verkoczy, Kevin O. Saunders, Rafi Ahmed, John R. Mascola, Garnett Kelsoe, Frederick W. Alt, and Barton F. Haynes (Article)

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Decitabine and Vorinostat with Chemotherapy in Relapsed Pediatric Acute Lymphoblastic Leukemia: A TACL Pilot Study., Michael J. Burke, Rumen Kostadinov, Richard Sposto, Lia Gore, Shannon M. Kelley, Cara Rabik, Jane B. Trepel, Min-Jung Lee, Akira Yuno, Sunmin Lee, Deepa Bhojwani, Sima Jeha, Bill H. Chang, Maria Luisa Sulis, Michelle L. Hermiston, Paul Gaynon, Van Huynh, Anupam Verma, Rebecca Gardner, Kenneth M. Heym, Robyn M. Dennis, David S. Ziegler, Theodore W. Laetsch, Javier E. Oesterheld, Steven G. Dubois, Jessica A. Pollard, Julia Glade-Bender, Todd M. Cooper, Joel A. Kaplan, Midhat S. Farooqi, Byunggil Yoo, Erin M. Guest, Alan S. Wayne, and Patrick A. Brown (Article)

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Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells., Li Chen, Ruirui Yang, Tony Kwan, Chao Tang, Stephen Watt, Yiming Zhang, Guillaume Bourque, Bing Ge, Kate Downes, Mattia Frontini, Willem H Ouwehand, Jing-Wen Lin, Nicole Soranzo, Tomi Pastinen, and Lu Chen (Article)

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype., Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D. Lichtenbelt, Koen van Gassen, Michelle Steinraths, Jennifer Rice, Elizabeth R Roeder, Rebecca O. Littlejohn, Myriam Srour, Guillaume Sebire, Andrea Accogli, Delphine Héron, Solveig Heide, Caroline Nava, Christel Depienne, Austin Larson, Dmitriy Niyazov, Meron Azage, George Hoganson, Jennifer Burton, Eric T. Rush, Janda L. Jenkins, Carol J. Saunders, Isabelle Thiffault, Joseph Alaimo, Julie Fleischer, Daniel Groepper, Karen W. Gripp, and Wendy K. Chung (Article)

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A diploid assembly-based benchmark for variants in the major histocompatibility complex., Chen-Shan Chin, Justin Wagner, Qiandong Zeng, Erik Garrison, Shilpa Garg, Arkarachai Fungtammasan, Mikko Rautiainen, Sergey Aganezov, Melanie Kirsche, Samantha Zarate, Michael C Schatz, Chunlin Xiao, William J. Rowell, Charles Markello, Jesse Farek, Fritz J. Sedlazeck, Vikas Bansal, Byunggil Yoo, Neil Miller, Xin Zhou, Andrew Carroll, Alvaro Martinez Barrio, Marc Salit, Tobias Marschall, Alexander T. Dilthey, and Justin M. Zook (Article)

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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology., Ivan K. Chinn, Alice Y. Chan, Karin Chen, Janet Chou, Morna J. Dorsey, Joud Hajjar, Artemio M. Jongco, Michael D. Keller, Lisa J. Kobrynski, Attila Kumanovics, Monica G. Lawrence, Jennifer W. Leiding, Patricia L. Lugar, Jordan S. Orange, Kiran Patel, Craig D. Platt, Jennifer M. Puck, Nikita Raje, Neil Romberg, Maria A. Slack, Kathleen E. Sullivan, Teresa K. Tarrant, Troy R. Torgerson, and Jolan E. Walter (Article)

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Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk., Christopher A. Crawford, Courtney E. Vujakovich, Lindsey Elmore, Emily Fleming, Benjamin J. Landis, Katie G. Spoonamore, and Stephanie M. Ware (Article)

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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder., Laura A. Cross, Kirsty McWalter, Jennifer Keller-Ramey, Lindsay B. Henderson, and Shivarajan Manickavasagam Amudhavalli (Article)

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Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)., Joshua L. Deignan, Elizabeth Chao, Jennifer L. Gannon, Henry T. Greely, Kelly D. Farwell Hagman, Rong Mao, Scott Topper, and ACMG Laboratory Quality Assurance Committee (Article)

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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome., Theodore G. Drivas, Dong Li, Divya Nair, Joseph Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan M. Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux-Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren E. Bartik, Lauren B. Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lace, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz-Gonzalez, Pavel N. Pichurin, Jason Pinner, Zoe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen J. Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol J. Saunders, Duygu Selcen, Ann R. Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe Campeau, and Elizabeth Bhoj (Article)

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Communicating science: epigenetics in the spotlight., Stephanie O M Dyke, Catherine A. Ennis, Yann Joly, Jörn Walter, Reiner Siebert, and T Pastinen (Article)

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Reinterpretation of Chromosomal Microarrays with Detailed Medical History., Midhat S. Farooqi, Shirelle Figueroa, Garrett Gotway, Jason Wang, Hung S. Luu, and Jason Y. Park (Article)

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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD, Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D. Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze T. Stumpel, Margje Sinnema, Bianca Panis, Rolph Pfundt, Ingrid P C Krapels, Merel Klaassens, Joost Nicolai, Jinliang Li, Yuwu Jiang, Elysa Marco, Ana Canton, Ana Claudia Latronico, Luciana Montenegro, Bruno Leheup, Celine Bonnet, Shivarajan Manickavasagam Amudhavalli, Caitlin E. Lawson, Kirsty McWalter, Aida Telegrafi, Richard Pearson, Malin Kvarnung, Xia Wang, Weimin Bi, Jill Anne Rosenfeld, and Marwan Shinawi (Article)

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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics., Samantha N. Hartin, John C. Means, Joseph Alaimo, and Scott T. Younger (Article)

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing., Ivana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Veronika Barešová, Helena Hůlková, Jakub Sikora, Lenka Nosková, Dita Mušálková, Petr Vyleťal, Jana Sovová, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch, and Adult NCL Gene Discovery Consortium (Article)

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LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features, Janda L. Jenkins, Aliessa P. Barnes, Brian Birnbaum, John Papagiannis, Isabelle Thiffault, and Carol J. Saunders (Article)

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You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery., Christopher Kurian, Gina Pinamonti, Susan Starling Hughes, Julie Martin, and Michael Lypka (Article)

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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability., Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan Mm Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles Mj Boon, Lina Basel-Salmon, Osnat Konen, Hadassa Goldberg-Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria Scarano, G Bradley Schaefer, Susan S. Brooks, Susan Starling Hughes, K L I van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, and Xiang-Jiao Yang (Article)

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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability., Jennifer Malinowski, David T. Miller, Laurie Demmer, Jennifer L. Gannon, Elaine Maria Pereira, Molly C. Schroeder, Maren T. Scheuner, Anne Chun-Hui Tsai, Scott E. Hickey, Jun Shen, and ACMG Professional Practice and Guidelines Committee (Article)

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation., Dongxue Mao, Chloe M. Reuter, Maura RZ Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A Bernstein, Hugo J. Bellen, and Hsiao-Tuan Chao (Article)

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MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome., K W Martin, N Weaver, K Alhasan, E Gumus, Bonnie Sullivan, M Zenker, F Hildebrandt, and J D Saba (Article)

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Targeting Natural Killer Cells for Improved Immunity and Control of the Adaptive Immune Response., Stephen Pierce, Eric S. Geanes, and Todd Bradley (Article)

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Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome., Binu Porath, Sana Farooki, Melissa Gener, Shivarajan Manickavasagam Amudhavalli, Lauren Grote, Linda D. Cooley, Kevin Ginn, and Midhat S. Farooqi (Article)

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CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders., Elena Repnikova, Dmitry A. Lyalin, Kimberly McDonald, Caroline Astbury, Emily Hansen-Kiss, Linda D. Cooley, Ruthann Pfau, Gail E. Herman, Robert E. Pyatt, and Scott E. Hickey (Article)

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Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing., Johanna L. Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zoe Powis, Grace M. Hobson, Susan Kirwin, Bryan Krock, Hane Lee, Joshua L. Deignan, Maggie A. Westemeyer, Ryan L. Subaran, Isabelle Thiffault, Ellen A. Tsai, Terry Fang, Guy Helman, and Adeline Vanderver (Article)

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder., Tiana M. Scott, Hui Guo, Evan E. Eichler, Jill A. Rosenfeld, Kaifang Pang, Zhandong Liu, Seema Lalani, Weimin Bi, Yaping Yang, Carlos A. Bacino, Haley Streff, Andrea M. Lewis, Mary K. Koenig, Isabelle Thiffault, Allison Bellomo, David B. Everman, Julie R. Jones, Roger E. Stevenson, Raphael Bernier, Christian Gilissen, Rolph Pfundt, Susan M. Hiatt, Gregory M. Cooper, Jimmy L. Holder, and Daryl A. Scott (Article)

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy., Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah Green, Koen van Gassen, Tracy Brandt, Rhonda E. Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H. Gavrilova, Eric W. Klee, Kendra Engleman, Nicole P. Safina, Rachel Slaugh, Emily M. Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N. Misra, G Bradley Schaefer, Shelley Towner, Eva H. Brilstra, and Bobby P C Koeleman (Article)

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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, and Carol J. Saunders (Article)

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Alternative Splicing of the SLCO1B1 Gene: An Exploratory Analysis of Isoform Diversity in Pediatric Liver., Bianca D. van Groen, Chengpeng Bi, Roger Gaedigk, Vincent S. Staggs, Dick Tibboel, Saskia N. de Wildt, and J Steven Leeder (Article)

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Single-cell analysis of human adipose tissue identifies depot and disease specific cell types., Jinchu Vijay, Marie-Frédérique Gauthier, Rebecca L. Biswell, Daniel A. Louiselle, Jeffrey J. Johnston, Warren A. Cheung, Bradley Belden, Albena Pramatarova, Laurent Biertho, Margaret Gibson, Marie-Michelle Simon, Haig Djambazian, Multiple Tissue Human Expression Resource Consortium, Alfredo Staffa, Guillaume Bourque, Anita Laitinen, Johanna Nystedt, Marie-Claude Vohl, Jason D. Fraser, T Pastinen, André Tchernof, and Elin Grundberg (Article)

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Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia., Jonathan B. Wagner, Susan M. Abdel-Rahman, Andrea Gaedigk, R Gaedigk, Geetha Raghuveer, Vincent S. Staggs, Leon Van Haandel, and J Steven Leeder (Article)

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Ontogeny Related Changes in the Pediatric Liver Metabolome., Christopher M. Wilson, Qian Li, R Gaedigk, Chengpeng Bi, Saskia N. de Wildt, J Steven Leeder, and Brooke L. Fridley (Article)

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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer., Kezhi Yan, Justine Rousseau, Keren Machol, Laura A. Cross, Katherine E. Agre, Cynthia Forster Gibson, Anne Goverde, Kendra Engleman, Hannah Verdin, Elfride De Baere, Lorraine Potocki, Dihong Zhou, Maxime Cadieux-Dion, Gary A. Bellus, Monisa D. Wagner, Rebecca J. Hale, Natacha Esber, Alan F. Riley, Benjamin D. Solomon, Megan T. Cho, Kirsty McWalter, Roy Eyal, Meagan K. Hainlen, Bryce A. Mendelsohn, Hillary M. Porter, Brendan C. Lanpher, Andrea M. Lewis, Juliann Savatt, Isabelle Thiffault, Bert Callewaert, Philippe M. Campeau, and Xiang-Jiao Yang (Article)

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Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation., Piming Zhao, Isaac D. Liu, Jeffrey B. Hodgin, Peter I. Benke, Jeremy Selva, Federico Torta, Markus R. Wenk, James A. Endrizzi, Olivia West, Weixing Ou, Emily Tang, Denise Li-Meng Goh, Stacey Kiat-Hong Tay, Hui-Kim Yap, Alwin Loh, Nicole Weaver, Bonnie Sullivan, Austin Larson, Megan A. Cooper, Khalid Alhasan, Abdullah A. Alangari, Suha Salim, Evren Gumus, Karin Chen, Martin Zenker, Friedhelm Hildebrandt, and Julie D. Saba (Article)

Works from 2019

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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes., Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T. Wild, Katheryn L. Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M. Amudhavalli, Elena Repnikova, Carol J. Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, and Alain Verloes (Article)

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Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism., Donovan Chan, Xiaojian Shao, Marie-Charlotte Dumargne, Mahmoud Aarabi, Marie-Michelle Simon, Tony Kwan, Janice L. Bailey, Bernard Robaire, Sarah Kimmins, Maria C. San Gabriel, Armand Zini, Clifford Librach, Sergey Moskovtsev, Elin Grundberg, Guillaume Bourque, T Pastinen, and Jacquetta M. Trasler (Article)

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome., Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar Abdul-Rahman, Melanie Bedford, Naghmeh Dorrani, Kendra Engleman, Josue Flores-Daboub, David Genevieve, Roberto Mendoza-Londono, Wendy Meschino, Laurence Perrin, Nicole Safina, Sharron Townshend, Stephen W. Scherer, Evdokia Anagnostou, Amelie Piton, Matthew Deardorff, Michael Brudno, David Chitayat, and Rosanna Weksberg (Article)

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CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements., Karla I. Claudio-Campos, Pablo González-Santiago, Jessica Y. Renta, Jovaniel Rodríguez, Kelvin Carrasquillo, Andrea Gaedigk, Abiel Roche, and Jorge Ducongé (Article)

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism., Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot R F Reijnders, Alexander J M Dingemans, Rolph Pfundt, Anneke T. Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thevenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke Verbeek, Koen van Gassen, Isabelle Thiffault, Maxime Cadieux-Dion, Lina Huerta-Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B A de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir-Kwa, Roland P. Kuiper, and Marjolijn C J Jongmans (Article)

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement., S Donkervoort, R Sabouny, P Yun, L Gauquelin, K R Chao, Y Hu, I Al Khatib, A Töpf, P Mohassel, B B Cummings, R Kaur, D Saade, S A Moore, L B Waddell, M A Farrar, J K Goodrich, P Uapinyoying, S H S Chan, A Javed, M E Leach, P Karachunski, J Dalton, L Medne, A Harper, C Thompson, Isabelle Thiffault, S Specht, R E Lamont, Carol J. Saunders, H Racher, F P Bernier, D Mowat, N Witting, J Vissing, R Hanson, Keith A. Coffman, Meagan K. Hainlen, J S Parboosingh, A Carnevale, G Yoon, R E Schnur, Care4Rare Canada Consortium, K M Boycott, J K Mah, V Straub, A Reghan Foley, A M Innes, C G Bönnemann, and T E Shutt (Article)

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Points-to-consider on the return of results in epigenetic research., Stephanie O M Dyke, Katie M. Saulnier, Charles Dupras, Amy P. Webster, Karen Maschke, Mark Rothstein, Reiner Siebert, Jörn Walter, Stephan Beck, T Pastinen, and Yann Joly (Article)

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Examination of rare genetic variants in dental enamel genes: The potential role of next-generation sequencing in primary dental care., Emily G. Farrow, Shankar Rengasamy Venugopalan, Isabelle Thiffault, and Carol J. Saunders (Article)

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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders., Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux-Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely M. Fitzgerald, Emily Fleming, Kimberly Foss, Thoa Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol J. Saunders, Anne Slavotinek, Sylvia Stockler-Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun-Hui Tsai, Xin Wang, Muhammad Zafar, Boris Keren, Uwe Kornak, Cornelius F Boerkoel, Ghayda Mirzaa, and Nadja Ehmke (Article)

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Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project., Andrea Gaedigk, Amy Turner, Robin E. Everts, Stuart A. Scott, Praful Aggarwal, Ulrich Broeckel, Gwendolyn A. McMillin, Roberta Melis, Erin C. Boone, Victoria M. Pratt, and Lisa V. Kalman (Article)

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Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders, Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria, Jeffrey D. Calhoun, John B. O'Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren E. Grote, Isabelle Thiffault, Carol J. Saunders, Kevin A. Strauss, Ali Torkamani, Jasper van der Smagt, Koen van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil R. Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, John J. Millichap, Alfred L. George, and Jennifer A. Kearney (Article)

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Mobility in osteogenesis imperfecta: a multicenter North American study., Karen M. Kruger, Angela Caudill, Mercedes Rodriguez Celin, Sandesh C S Nagamani, Jay R. Shapiro, Robert D. Steiner, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H. Byers, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V Reid Sutton, Brendan Lee, Eric T. Rush, Peter A. Smith, and Gerald F. Harris (Article)

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Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene., Simon Lalonde, Valérie-Anne Codina-Fauteux, Sébastian Méric de Bellefon, Francis Leblanc, Mélissa Beaudoin, Marie-Michelle Simon, Rola Dali, Tony Kwan, Ken Sin Lo, T Pastinen, and Guillaume Lettre (Article)

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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6., Austin A. Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C. Burrage, Ronit Marom, Brett H. Graham, George A. Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S Lane Rutledge, Amy Williamson, Lissette Estrella, Johan K L Van Hove, and James D. Weisfeld-Adams (Article)

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Using the diffusion of innovations model to guide participant engagement in the genomics era., Katie L. Lewis, Flavia M. Facio, and Courtney D. Berrios (Article)

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Snord94 expression level alters methylation at C62 in snRNA U6., Allison Ogren, Nataliya Kibiryeva, Jennifer A. Marshall, James O'Brien, and Douglas C. Bittel (Article)

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MAGEL2-related disorders: A study and case series., Jameson Patak, James Gilfert, Melissa Byler, Vamsee Neerukonda, Isabelle Thiffault, Laura A. Cross, Shivarajan Manickavasagam Amudhavalli, Marta Pacio-Miguez, Maria Palomares-Bralo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Zoe Powis, Wendy Alcaraz, Sha Tang, Julie Jurgens, Brenda Barry, Eleina England, Elizabeth Engle, Jonathon Hess, and Robert R. Lebel (Article)

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Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection., Wanqiong Qiao, Suparna Martis, Geetu Mendiratta, Lisong Shi, Mariana R. Botton, Yao Yang, Andrea Gaedigk, Raymon Vijzelaar, Lisa Edelmann, Ruth Kornreich, Robert J. Desnick, and Stuart A. Scott (Article)

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A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient., Shankar Rengasamy Venugopalan, Emily G. Farrow, Pedro A. Sanchez-Lara, Stephen Yen, Michael Lypka, Shao Jiang, and Veerasathpurush Allareddy (Article)

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Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT., Jarmo Ritari, Kati Hyvärinen, Satu Koskela, Riitta Niittyvuopio, Anne Nihtinen, Urpu Salmenniemi, Mervi Putkonen, Liisa Volin, Tony Kwan, T Pastinen, Maija Itälä-Remes, and Jukka Partanen (Article)

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Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing., Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M T Greenwood, Marvin J. Fritzler, Philip Awadalla, T Pastinen, and Sasha Bernatsky (Article)

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Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures., Jie Zheng, Winfried Maerz, Ingrid Gergei, Marcus Kleber, Christiane Drechsler, Christoph Wanner, Vincent Brandenburg, Sjur Reppe, Kaare M. Gautvik, Carolina Medina-Gomez, Enisa Shevroja, Arthur Gilly, Young-Chan Park, George Dedoussis, Eleftheria Zeggini, Mattias Lorentzon, Petra Henning, Ulf H. Lerner, Karin H. Nilsson, Sofia Movérare-Skrtic, Denis Baird, Benjamin Elsworth, Louise Falk, Alix Groom, Terence D. Capellini, Elin Grundberg, Maria Nethander, Claes Ohlsson, George Davey Smith, and Jonathan H. Tobias (Article)

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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement., Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph Alaimo, Emilia K. Bijlsma, Jannine Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Smigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton-Smith, Channa F. De Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar Kempink, Frea Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie Menke, Paul Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol J. Saunders, Agnieszka Stembalska, Hans Van Balkom, Sandra Whalen, and Raoul C. Hennekam (Article)

Works from 2018

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Variation among Consent Forms for Clinical Whole Exome Sequencing., Sara A Fowler, Carol J. Saunders, and Mark A Hoffman (Article)

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The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database, Andrea Gaedigk, Magnus Ingelman-Sundberg, Neil A. Miller, J Steven Leeder, Michelle Whirl-Carrillo, and Teri E. Klein (Article)

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Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia., Weijie Li, Linda D. Cooley, and Keith August (Article)

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Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies., Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher J. Romero, Shoji Ichikawa, Emily G. Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, and Rachel I. Gafni (Article)

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Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study)., Zohreh Talebizadeh, Ayten Shah, and PCORI EAIN-2419 Working Group (Article)

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On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing., Isabelle Thiffault, Maxime Cadieux-Dion, Emily G. Farrow, Raymond Caylor, Neil A. Miller, Sarah E. Soden, and Carol J. Saunders (Article)

Works from 2017

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Genetic Predictors of Susceptibility to Dermatophytoses., Susan M. Abdel-Rahman (Article)

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Newborn Sequencing in Genomic Medicine and Public Health., Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy M. Brower, Julie A. Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui-Yan Kwok, John Lantos, J Steven Leeder, Megan A. Lewis, Amy L. McGuire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Josh E. Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra Roche, Joseph T. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel K. Willig, Timothy W. Yu, Tiina Urv, and Anastasia L. Wise (Article)

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Genomics of primary chemoresistance and remission induction failure in paediatric and adult acute myeloid leukaemia., Fiona C. Brown, Paolo Cifani, Esther Drill, Jie He, Eric Still, Shan Zhong, Sohail Balasubramanian, Dean Pavlick, Bahar Yilmazel, Kristina M. Knapp, Todd A. Alonzo, Soheil Meshinchi, Richard M. Stone, Steven M. Kornblau, Guido Marcucci, Alan S. Gamis, John C. Byrd, Mithat Gonen, Ross L. Levine, and Alex Kentsis (Article)

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Biochemical and Biophysical Methods for Analysis of Poly(ADP-Ribose) Polymerase 1 and Its Interactions with Chromatin., Maggie H. Chassé, Uma M. Muthurajan, Nicholas J. Clark, Michael A. Kramer, Srinivas Chakravarthy, Thomas Irving, and Karolin Luger (Article)

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, and Joseph Muenzer (Article)

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Genetic alterations in necrotizing enterocolitis., Alain Cuna and Venkatesh Sampath (Article)

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Prediction of CYP2D6 phenotype from genotype across world populations., Andrea Gaedigk, Katrin Sangkuhl, Michelle Whirl-Carrillo, Teri Klein, and J Steven Leeder (Article)

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In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report., Andrea Gaedigk, Greyson P. Twist, Emily G. Farrow, Jennifer Lowry, Sarah E. Soden, and Neil A. Miller (Article)

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GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant., Michelle M. Giddens, Jennifer C. Wong, Jason P. Schroeder, Emily G. Farrow, Brilee M. Smith, Sharon Owino, Sarah E. Soden, Rebecca C. Meyer, Carol J. Saunders, Jean-Baptist LePichon, David Weinshenker, Andrew Escayg, and Randy A. Hall (Article)

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Novel HLA-DP region susceptibility loci associated with severe acute GvHD., Rakesh K. Goyal, S J. Lee, T Wang, M Trucco, M Haagenson, S R. Spellman, M Verneris, and R E. Ferrell (Article)

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Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update., J K. Hicks, K Sangkuhl, J J. Swen, V L. Ellingrod, D J. Müller, K Shimoda, J R. Bishop, E D. Kharasch, T C. Skaar, Andrea Gaedigk, H M. Dunnenberger, T E. Klein, K E. Caudle, and J C. Stingl (Article)

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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene., Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Genevieve Bernard, Isabella Straub, Martine Tetreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S Rosenblatt, Eric Shoubridge, Aziz Mhanni, Tara Myers, Virginia Proud, Samanta Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole Safina, Carol Saunders, Kym M. Boycott, and Isabelle Thiffault (Article)

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Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome., Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, and Carol J. Saunders (Article)

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A functional ATG16L1 (T300A) variant is associated with necrotizing enterocolitis in premature infants., Venkatesh Sampath, Vineet Bhandari, Jessica Berger, Daniel Merchant, Liyun Zhang, Mihoko Ladd, Heather Menden, Jeffery Garland, Namasivayam Ambalavanan, Neil Mulrooney, Michael Quasney, John Dagle, Pascal M. Lavoie, Pippa Simpson, and Mary Dahmer (Article)

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease., Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A Brodsky, and Carol Saunders (Article)

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Metabolic and molecular insights into an essential role of nicotinamide phosphoribosyltransferase., Li Q. Zhang, Leon Van Haandel, Min Xiong, Peixin Huang, Daniel P. Heruth, Chengpeng Bi, R Gaedigk, Xun Jiang, Ding-You Li, Gerald Wyckoff, Dmitry N. Grigoryev, Li Gao, Linheng Li, Min Wu, J Steven Leeder, and Shui Qing Ye (Article)

Works from 2016

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The genomic CDS sandbox: An assessment among domain experts., Ayesha Aziz, Kensaku Kawamoto, Karen Eilbeck, Marc S Williams, Robert R Freimuth, Mark A Hoffman, Luke V Rasmussen, Casey L Overby, Brian H Shirts, James M Hoffman, and Brandon M Welch (Article)

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User-centered design of multi-gene sequencing panel reports for clinicians., Elizabeth Cutting, Meghan Banchero, Amber L. Beitelshees, James J. Cimino, Guilherme Del Fiol, Ayse P. Gurses, Mark A. Hoffman, Linda Jo Bone Jeng, Kensaku Kawamoto, Mark Kelemen, Harold Alan Pincus, Alan R. Shuldiner, Marc S. Williams, Toni I. Pollin, and Casey Lynnette Overby (Article)

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User-centered design of multi-gene sequencing panel reports for clinicians., Elizabeth Cutting, Meghan Banchero, Amber L Beitelshees, James J Cimino, Guilherme Del Fiol, Ayse P Gurses, Mark A Hoffman, Linda Jo Bone Jeng, Kensaku Kawamoto, Mark Kelemen, Harold Alan Pincus, Alan R Shuldiner, Marc S Williams, Toni I Pollin, and Casey Lynnette Overby (Article)

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Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges., Michael J. Deem (Article)

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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy., Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptist LePichon, Emily G. Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, and Marco Tartaglia (Article)

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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing., Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, and Claudio Pignata (Article)

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Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis., Giuliana Giardino, Vera Gallo, Domenico Somma, Emily G. Farrow, Isabelle Thiffault, Roberta D'Assante, Vittoria Donofrio, Mariateresa Paciolla, Matilde Valeria Ursini, Antonio Leonardi, Carol J. Saunders, and Claudio Pignata (Letter to the Editor)

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Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A., Allison M. Jay, Robert L. Conway, Isabelle Thiffault, Carol J. Saunders, Emily G. Farrow, John Adams, and Helga V. Toriello (Article)

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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, and Emily G. Farrow (Article)

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Genetic Variation in the Histamine Production, Response, and Degradation Pathway Is Associated with Histamine Pharmacodynamic Response in Children with Asthma., Bridgette Jones, Catherine M T Sherwin, Xiaoxi Liu, Hongying Dai, and Carrie A. Vyhlidal (Article)

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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting., L V. Kalman, Jag Agúndez, M Lindqvist Appell, J L. Black, G C. Bell, S Boukouvala, C Bruckner, E Bruford, K Caudle, S A. Coulthard, A K. Daly, Al Del Tredici, J T. den Dunnen, K Drozda, R E. Everts, D Flockhart, R R. Freimuth, Andrea Gaedigk, H Hachad, T Hartshorne, M Ingelman-Sundberg, T E. Klein, V M. Lauschke, D R. Maglott, H L. McLeod, G A. McMillin, U A. Meyer, D J. Müller, D A. Nickerson, W S. Oetting, M Pacanowski, V M. Pratt, M V. Relling, A Roberts, W S. Rubinstein, K Sangkuhl, M Schwab, S A. Scott, S C. Sim, R K. Thirumaran, L H. Toji, R F. Tyndale, Rhn van Schaik, M Whirl-Carrillo, KTJ Yeo, and U M. Zanger (Article)

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Introduction to Bioethics Special Supplement V: Ethical Issues in Genomic Testing of Children., John D. Lantos (Article)

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Clinical detection of deletion structural variants in whole-genome sequences., Aaron C. Noll, Neil A. Miller, Laurie D. Smith, Byunggil Yoo, Stephanie Fiedler, Linda D. Cooley, Laurel K. Willig, Josh E. Petrikin, Julie Cakici, John Lesko, Angela Newton, Kali Detherage, Isabelle Thiffault, Carol J. Saunders, Emily G. Farrow, and Stephen F. Kingsmore (Article)

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Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6., Wanqiong Qiao, Yao Yang, Robert Sebra, Geetu Mendiratta, Andrea Gaedigk, Robert J. Desnick, and Stuart A. Scott (Article)

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A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services., Michael L. Rinke, Amy Driscoll, Natalie Mikat-Stevens, Jill Healy, Elizabeth Colantuoni, Abdallah F. Elias, Beth A. Pletcher, Ruth S. Gubernick, Ingrid Larson, Wendy K. Chung, and Beth A. Tarini (Article)

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CYP450 genotype and pharmacogenetic association studies: a critical appraisal., Rashmi R. Shah, Andrea Gaedigk, Adrián LLerena, Michel Eichelbaum, Julia Stingl, and Robert L. Smith (Article)

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Molecular Evolution and Intraclade Recombination of Enterovirus D68 during the 2014 Outbreak in the United States., Yi Tan, Ferdaus Hassan, Jennifer E. Schuster, Ari Simenauer, Rangaraj Selvarangan, Rebecca A. Halpin, Xudong Lin, Nadia Fedorova, Timothy B. Stockwell, Tommy Tsan-Yuk Lam, James D. Chappell, Tina V. Hartert, Edward C. Holmes, and Suman R. Das (Article)