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 2022

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EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops., Gangaram Akangire, Heather Menden, Sheng Xia, Isabelle Thiffault, Atif Ahmed, and Venkatesh Sampath (Article)

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22q11.2 duplications: Expanding the clinical presentation., Lauren E. Bartik, Susan Starling Hughes, Meghan Tracy, Matthew M. Feldt, Lei Zhang, Jill M. Arganbright, and Alison Kaye (Article)

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Parental understanding and attitudes following pharmacogenomic testing for pediatric neuropsychiatric patients., Courtney D. Berrios, Sophia K. Sadaro, Tracy L. Sandritter, Jennifer A. Wagner, Sarah E. Soden, Benjamin Black, and Susan Abdel-Rahman (Article)

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum., Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W. Zyskind, Zehua Zhu, Clemence Vachet, Gena R. Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, and Laurence Faivre (Article)

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Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency., James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A. Chioza, Lettie E. Rawlins, Olivia K. Wenger, Adam C. Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M. Neuhann, Elaine H. Zackai, Beth Keena, Jenina Capasso, Alex V. Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M. Wentzensen, Adam Jackson, Kate E. Chandler, Zeynep H. Coban-Akdemir, Jennifer E. Posey, Siddharth Banka, James R. Lupski, Sarah E. Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H. Crosby, and Emma L. Baple (Article)

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CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project., Andrea Gaedigk, Erin C. Boone, Steven E. Scherer, Seung-Been Lee, Ibrahim Numanagić, Cenk Sahinalp, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Xiang Qin, Wendy Y. Wang, Emily G. Farrow, Nina Gonzaludo, Aaron L. Halpern, Deborah A. Nickerson, Neil A. Miller, Victoria M. Pratt, and Lisa V. Kalman (Article)

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Cross-reactive antibodies elicited to conserved epitopes on SARS-CoV-2 spike protein after infection and vaccination., Eric S. Geanes, Cas LeMaster, Elizabeth Fraley, Santosh Khanal, Rebecca McLennan, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley (Article)

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HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure., Jennifer Goldman, Jenna Miller, Neil Miller, Robert Eveleigh, Andrew Gibson, Elizabeth J. Phillips, and T Pastinen (Article)

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TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay., Jennifer Hanson, Daniel Brezavar, Susan Starling Hughes, Shivarajan Manickavasagam Amudhavalli, Emily Fleming, Dihong Zhou, Joseph Alaimo, and Penelope E. Bonnen (Article)

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Pediatric growth patterns in youth-onset type 2 diabetes mellitus: Implications for physiologically-based pharmacokinetic models., Chelsea M. Hosey, Kelsee Halpin, Valentina Shakhnovich, Chengpeng Bi, Brooke Sweeney, Yun Yan, and J Steven Leeder (Article)

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Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases., Kousik Kundu, Manuel Tardaguila, Alice L. Mann, Stephen Watt, Hannes Ponstingl, Louella Vasquez, Dominique Von Schiller, Nicholas W. Morrell, Oliver Stegle, T Pastinen, Stephen J. Sawcer, Carl A. Anderson, Klaudia Walter, and Nicole Soranzo (Article)

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Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype., Simon Lebaron, Marie-Françoise O'Donohue, Scott C. Smith, Kendra Engleman, Jane Juusola, Nicole P. Safina, Isabelle Thiffault, Carol J. Saunders, and Pierre-Emmanuel Gleizes (Article)

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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration., Julia Macintosh, Alexa Derksen, Chantal Poulin, Nancy Braverman, Adeline Vanderver, Isabelle Thiffault, Steffen Albrecht, and Geneviève Bernard (Article)

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Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients., Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey J. Johnston, T Pastinen, and Scott T. Younger (Article)

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Oculo-dento-digital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults., Mackenzie A. Michell-Robinson, Stefanie Perrier, Cassandra Lucia, Luan T. Tran, Isabelle Thiffault, Wolfgang Köhler, and Genevieve Bernard (Article)

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Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program., Eric T. Rush, Britt Johnson, Swaroop Aradhya, Daniel Beltran, Sara L. Bristow, Scott Eisenbeis, Norma E. Guerra, Stan Krolczyk, Nicole Miller, Ana Morales, Prameela Ramesan, Soodabeh Sarafrazi, Rebecca Truty, and Kathryn Dahir (Article)

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome., Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Deciphering Developmental Disorders Study, Sarah Smithson, Ana Beleza Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O'Donnell-Luria, Catherine Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita S. Saenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia A L Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke Verbeek, Jiddeke M. van de Kamp, Janneke M M Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange-Line Bruel, Arthur Sorlin, Mary Willis, Zoe Powis, Thomas Smol, Catherine Vincent-Delorme, Diana Baralle, Estelle Colin, Nicole Revencu, Eduardo Calpena, Andrew O M Wilkie, Maya Chopra, Valerie Cormier-Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Alessandra Terracciano, Nicola Specchio, Marco Tartaglia, Marlene Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, and Gijs van Haaften (Article)

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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin., Charlotte von der Lippe, Kristian Tveten, Trine E. Prescott, Øystein L. Holla, Øyvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Júlia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faletra, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S A Cohen, Kendra Engleman, Dihong Zhou, Shivarajan Manickavasagam Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G. Haug, and Wenche M. Thorstensen (Article)

Works from 2021

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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey., Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W. Stottmann, Howard M. Saal, and K Nicole Weaver (Article)

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Big Data Strikes Again: Future Utilization of the UK Biobank as a Resource for Clinical Laboratories., Joseph Alaimo and Carol J. Saunders (Article)

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ACG Clinical Report and Recommendations on Transition of Care in Children and Adolescents With Hereditary Polyposis Syndromes., Thomas M. Attard, Carol A. Burke, Warren Hyer, Carol Durno, Karen E. Hurley, Caitlin E. Lawson, James Church, Shlomi Cohen, Michele H. Maddux, and Pediatric Committee of the American College of Gastroenterology (Article)

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Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care., Courtney D. Berrios, Emily A. Hurley, Laurel K. Willig, Isabelle Thiffault, Carol J. Saunders, T Pastinen, Kathy Goggin, and Emily G. Farrow (Article)

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Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics., Marc Jan Bonder, Craig Smail, Michael J. Gloudemans, Laure Frésard, David Jakubosky, Matteo D'Antonio, Xin Li, Nicole M. Ferraro, Ivan Carcamo-Orive, Bogdan Mirauta, Daniel D. Seaton, Na Cai, Dara Vakili, Danilo Horta, Chunli Zhao, Diane B. Zastrow, Devon E. Bonner, HipSci Consortium;, iPSCORE consortium, Undiagnosed Diseases Network, PhLiPS consortium, Matthew T. Wheeler, Helena Kilpinen, Joshua W. Knowles, Erin N. Smith, Kelly A. Frazer, Stephen B. Montgomery, and Oliver Stegle (Article)

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Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine., Todd Bradley, Elin Grundberg, Rangaraj Selvarangan, Cas LeMaster, Elizabeth Fraley, Dithi Banerjee, Bradley Belden, Daniel A. Louiselle, Nick Nolte, Rebecca L. Biswell, T Pastinen, Angela Myers, and Jennifer E. Schuster (Letter to the Editor)

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Syndromic neurodevelopmental disorder associated with de novo variants in DDX23., William Burns, Lynne M. Bird, Delphine Heron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia Del Viso, Shivarajan Amudhavalli, Kendra Engleman, Ilaria Parenti, Frank J. Kaiser, Jolanta Wierzba, Korbinian M. Riedhammer, Susanne Liptay, Neda Zadeh, Joseph Porrmann, Andrea Fischer, Sophie Gößwein, Heather M. McLaughlin, Aida Telegrafi, Katherine G. Langley, Richard Steet, Raymond J. Louie, and Michael J. Lyons (Article)

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings., Maxime Cadieux-Dion, Jennifer L. Gannon, Brandon D. Newell, Amy J. Nopper, Janda L. Jenkins, Bryce Heese, and Carol J. Saunders (Article)

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Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease., Maxime Cadieux-Dion, Susan Starling Hughes, Kendra Engleman, Eric T. Rush, and Carol J. Saunders (Article)

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Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections., Lauren Cummings, Megan H. Tucker, Margaret Gibson, Angela Myers, Tomi Pastinen, Jeffrey J. Johnston, Emily G. Farrow, and Venkatesh Sampath (Article)

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Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease., Olivia M. de Goede, Daniel C. Nachun, Nicole M. Ferraro, Michael J. Gloudemans, Abhiram S. Rao, Craig Smail, Tiffany Y. Eulalio, François Aguet, Bernard Ng, Jishu Xu, Alvaro N. Barbeira, Stephane E. Castel, Sarah Kim-Hellmuth, YoSon Park, Alexandra J. Scott, Benjamin J. Strober, GTEx Consortium, Christopher D. Brown, Xiaoquan Wen, Ira M. Hall, Alexis Battle, Tuuli Lappalainen, Hae Kyung Im, Kristin G. Ardlie, Sara Mostafavi, Thomas Quertermous, Karla Kirkegaard, and Stephen B. Montgomery (Article)

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction., Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J M Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellaker, Shivarajan Manickavasagam Amudhavalli, Siddharth Banka, Frederique S. Bena, Bruria Ben-Zeev, Vincent R. Bonagura, Ange-Line Bruel, Theresa Brunet, Han G. Brunner, Hui B. Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, DDD Study, Emmanuèlle C. Délot, Florence Démurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir-Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip H. Moey, Shehla Mohammed, Hagar Mor-Shaked, Hayley Mountford, Ruth Newbury-Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy B. Palculict, Michael Parker, Andrea K. Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago-Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P A Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin-Dembinsky, Juliana H. Vedovato-Dos-Santos, Samantha A. Schrier Vergano, Eric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, and Lisenka E L M Vissers (Article)

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PharmVar GeneFocus: CYP2B6., Zeruesenay Desta, Ahmed El-Boraie, Li Gong, Andrew A. Somogyi, Volker M. Lauschke, Collet Dandara, Kathrin Klein, Neil A. Miller, Teri E. Klein, Rachel F. Tyndale, Michelle Whirl-Carrillo, and Andrea Gaedigk (Article)

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine., Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G L Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, and Siddharth Banka (Article)

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Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation., Andrea Gaedigk, Scott T. Casey, Michelle Whirl-Carrillo, Neil A. Miller, and Teri E. Klein (Article)

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Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD., Anusha Gandhi, Dihong Zhou, Joseph Alaimo, Edwin Chon, Michael D. Fountain, and Sarah H. Elsea (Article)

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ITGB2 (Integrin β2) Immunomodulatory Gene Variants in Premature Infants With Necrotizing Enterocolitis., Lovya George MD, Heather Menden, Sheng Xia, Wei Yu, Anne Holmes, Jeffrey J. Johnston, Kimberly J. Reid, Cassandra D. Josephson, Ravi M. Patel, Atif Ahmed, Neil Mulrooney, Neil A. Miller, Emily G. Farrow, and Venkatesh Sampath (Article)

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders., Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B A De Vries, Lisenka E L M Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Starling Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E H Simon, Koen L I van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, and Evan E. Eichler (Article)

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Expanded phenotype of AARS1-related white matter disease., Guy Helman, Marisa I. Mendes, Francesco Nicita, Lama Darbelli, Omar Sherbini, Travis Moore, Alexa Derksen, Amy Pizzino, Rosalba Carrozzo, Alessandra Torraco, Michela Catteruccia, Chiara Aiello, Paola Goffrini, Sonia Figuccia, Desiree E C Smith, Kinga Hadzsiev, Andreas Hahn, Saskia Biskup, Ines Brösse, Urania Kotzaeridou, Darja Gauck, Theresa A. Grebe, Frances Elmslie, Karen Stals, Rajat Gupta, Enrico Bertini, Isabelle Thiffault, Ryan J. Taft, Raphael Schiffmann, Ulrich Brandl, Tobias B. Haack, Gajja S. Salomons, Cas Simons, Geneviève Bernard, Marjo S. van der Knaap, Adeline Vanderver, and Ralf A. Husain (Article)

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A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma., Santosh Khanal and Todd Bradley (Article)

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AHDC1 missense mutations in Xia-Gibbs syndrome, Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura A. Cross, Emilia K. Bijlsma, Claudia A L Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O'Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, and Richard A. Gibbs (Article)

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Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa., Priya S. Kishnani, Guillermo Del Angel, Shanggen Zhou, and Eric T. Rush (Article)

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Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing., Lisa A. Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, Neil A. Miller, Ana S A Cohen, Lee Zellmer, Lei Zhang, Emily G. Farrow, Isabelle Thiffault, Elena Repnikova, Linda D. Cooley, Joseph Alaimo, Binu Porath, John Herriges, Carol J. Saunders, and Midhat S. Farooqi (Article)

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A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome., Lisa A. Lansdon, Dong Chen, Eric T. Rush, Kendra Engleman, Lei Zhang, Carol J. Saunders, and Gabor Oroszi (Article)

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Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association., Lisa A. Lansdon, Emily Fleming, Florencia Del Viso, Bonnie Sullivan, and Carol J. Saunders (Article)

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Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate., Lisa A. Lansdon and Carol J. Saunders (Article)

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Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency., Juan Li, Wei-Te Lei, Peng Zhang, Franck Rapaport, Yoann Seeleuthner, Bingnan Lyu, Takaki Asano, Jérémie Rosain, Boualem Hammadi, Yu Zhang, Simon J Pelham, András N. Spaan, Mélanie Migaud, David Hum, Benedetta Bigio, Maya Chrabieh, Vivien Béziat, Jacinta Bustamante, Shen-Ying Zhang, Emmanuelle Jouanguy, Stephanie Boisson-Dupuis, Jamila El Baghdadi, Vishukumar Aimanianda, Katharina Thoma, Manfred Fliegauf, Bodo Grimbacher, Anne-Sophie Korganow, Carol J. Saunders, V Koneti Rao, Gulbu Uzel, Alexandra F. Freeman, Steven M. Holland, Helen C. Su, Charlotte Cunningham-Rundles, Claire Fieschi, Laurent Abel, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova, Qian Zhang, and Bertrand Boisson (Article)

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Intersection of regulatory pathways controlling hemostasis and hemochorial placentation., Masanaga Muto, Damayanti Chakraborty, Kaela M. Varberg, Ayelen Moreno-Irusta, Khursheed Iqbal, Regan L. Scott, Ross P. McNally, Ruhul H. Choudhury, John D. Aplin, Hiroaki Okae, Takahiro Arima, Shoma Matsumoto, Masatsugu Ema, Alan E. Mast, Elin Grundberg, and Michael J. Soares (Article)

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females., Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández-García, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez-Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan-Khetarpal, Chelsea Roadhouse, Jennifer J. MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura A. Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura E. Schultz-Rogers, Erica L. Macke, Eva Morava, Eric W. Klee, Jennifer Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaetan Lesca, Joset Pascal, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M R Castle, Melissa T. Carter, Louisa Kalsner, Bert B A de Vries, Bregje W. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P A Stegmann, Bronwyn Kerr, Helen M. Kingston, Kate E. Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Britt-Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E M Diderich, Alice S. Brooks, Joost Gribnau, Ruben G. Boers, Teresa Robert Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini, Kym M. Boycott, Tahsin Stefan Barakat, John M. Graham, Laurence Faivre, Siddharth Banka, Tianyun Wang, Evan E. Eichler, Manuela Priolo, Bruno Dallapiccola, Lisenka E L M Vissers, Bekim Sadikovic, Daryl A. Scott, Jimmy Lloyd Holder, and Marco Tartaglia (Article)

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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations., 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 Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Björn U. 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 Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, 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 Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, Undiagnosed Diseases Network, Eric T. Rush, Geoffrey S Pitt, Ping Yee Billie Au, and Vandana Shashi (Article)

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot., Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V Y Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura A. Cross, Dihong Zhou, T Pastinen, German Competence Network for Congenital Heart Defects, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, and Connie R. Bezzina (Article)

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Adolescent perceptions of pharmacogenetic testing., Stephani L. Stancil, Courtney D. Berrios, and Susan M. Abdel-Rahman (Article)

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Nonsense-mediated decay is highly stable across individuals and tissues., Nicole A. Teran, Daniel C. Nachun, Tiffany Eulalio, Nicole M. Ferraro, Craig Smail, Manuel A. Rivas, and Stephen B. Montgomery (Article)

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ASCL2 reciprocally controls key trophoblast lineage decisions during hemochorial placenta development., Kaela M. Varberg, Khursheed Iqbal, Masanaga Muto, Mikaela E. Simon, Regan L. Scott, Keisuke Kozai, Ruhul H. Choudhury, John D. Aplin, Rebecca L. Biswell, Margaret Gibson, Hiroaki Okae, Takahiro Arima, Jay L. Vivian, Elin Grundberg, and Michael J. Soares (Article)

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Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease., Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, T Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, and Nicole Soranzo (Article)

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Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range., Konner Winkley, Dithi Banerjee, Todd Bradley, Boryana Koseva, Warren A. Cheung, Rangaraj Selvarangan, T Pastinen, and Elin Grundberg (Article)

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Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders., Brent H. Wyatt, Thomas O. Raymond, Lisa A. Lansdon, Benjamin W. Darbro, Jeffrey C. Murray, John Robert Manak, and Amanda J G Dickinson (Article)

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Delta-like 4 is required for pulmonary vascular arborization and alveolarization in the developing lung., Sheng Xia, Heather Menden, Nick Townley, Sherry M. Mabry, Jeffrey J. Johnston, Michael F. Nyp, Daniel P. Heruth, Thomas Korfhagen, and Venkatesh Sampath (Article)

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FOXC2 Autoregulates Its Expression in the Pulmonary Endothelium After Endotoxin Stimulation in a Histone Acetylation-Dependent Manner, Sheng Xia, Wei Yu, Heather Menden, Scott T. Younger, and Venkatesh Sampath (Article)

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Thousands of CpGs Show DNA Methylation Differences in ACPA-Positive Individuals., Yixiao Zeng, Kaiqiong Zhao, Kathleen Oros Klein, Xiaojian Shao, Marvin J. Fritzler, Marie Hudson, Inés Colmegna, T Pastinen, Sasha Bernatsky, and Celia M T Greenwood (Article)

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A novel statistical method for modeling covariate effects in bisulfite sequencing derived measures of DNA methylation., Kaiqiong Zhao, Karim Oualkacha, Lajmi Lakhal-Chaieb, Aurélie Labbe, Kathleen Klein, Antonio Ciampi, Marie Hudson, Inés Colmegna, T Pastinen, Tieyuan Zhang, Denise Daley, and Celia M T Greenwood (Article)

Works from 2020

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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms., Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Ugur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, Undiagnosed Diseases Network, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance Rodan, Catherine Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaetan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose Camacho, Emma Wakeling, Bo Yuan, Chun-An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, and Hugo J. Bellen (Article)

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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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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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Eosinophil microRNAs Play a Regulatory Role in Allergic Diseases Included in the Atopic March., Émile Bélanger, Anne-Marie Madore, Anne-Marie Boucher-Lafleur, Marie-Michelle Simon, Tony Kwan, Tomi Pastinen, and Catherine Laprise (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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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling., Michaela Bosakova, Sara P. Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V. Pusapati, Vitezslav Bryja, Eric T. Rush, Isabelle Thiffault, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H. Cohn, Deborah Krakow, and Pavel Krejci (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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Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy, Maxime Cadieux-Dion, Simone Meneghini, Chiara Villa, Dènahin Hinnoutondji Toffa, Ronny Wickstrom, Alain Bouthillier, Ulrika Sandvik, Bengt Gustavsson, Ismail Mohamed, Patrick Cossette, Romina Combi, Andrea Becchetti, and Dang Khoa Nguyen (Article)

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High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations., Mingju Cao, Xiaojian Shao, Peter Chan, Warren Cheung, Tony Kwan, T Pastinen, and Bernard Robaire (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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High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach., Jill Jacobson, Laurel K. Willig, John Gatti, Julie Strickland, Anna Egan, Carol J. Saunders, Emily G. Farrow, and Leslie L. Heckert (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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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome., Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C O C O Man, Christian Gilissen, Megan T Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen E H Simon, Casie A. Genetti, Alicia M. Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L I van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina N. Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva M C Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, and Tjitske Kleefstra (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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Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases., E Michael Lewiecki, John P. Bilezikian, Risa Kagan, Deborah Krakow, Michael R. McClung, Paul D. Miller, Eric T. Rush, Christopher R. Shuhart, Nelson B. Watts, and Elaine W. Yu (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)