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.
Works from 2021
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)
Characterizing Differential Antibody Responses To Covid-19 Vaccine And Pre-Existing Immunity To Covid-19, Elizabeth Fraley, Eric S. Geanes, Dithi Banerjee, Santosh Khanal, Daniel A. Louiselle, Nick Nolte, Rebecca L. Biswell, Bradley Belden, Angela Myers, Jennifer Schuster, Tomi Pastinen, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley
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)
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)
Development Of Bispecific Antibodies Against Rituximab Resistant Large B Cell Lymphoma, Eric S. Geanes, Stephen Pierce, Santosh Khanal, Rebecca McLennan, and Todd Bradley
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)
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)
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)
A prognostic gene signature for predicting survival outcome in diffuse large B-cell lymphoma., Santosh Khanal and Todd Bradley (Article)
A Comprehensive Investigation Into The Influence Of Gender, Ethnicity And Age On Immunoglobulin Concentrations, Santosh Khanal, Earl F. Glynn, Cas LeMaster, Rebecca McLennan, Mark A. Hoffman, and Todd Bradley
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)
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)
Genetic Testing and Congenital Heart Defects, Jennifer Kussmann (Webinar)
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)
Many Clinical Laboratories Performing Next-Generation Sequencing Have No Future Plans To Migrate To GRCH38, Lisa A. Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, Neil Miller, Ana S A Cohen, Lee Zellmer, Lei Zhang, Emily Farrow, Isabelle Thiffault, Elena Repnikova, Linda D. Cooley, Joseph Alaimo, Binu Porath, John Herriges, Carol Saunders, and Midhat Farooqi
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)
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)
Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: Potential association of p.Leu95Pro with cleft palate., Lisa A. Lansdon and Carol J. Saunders (Article)
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)
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)
Development Of A CRISPRi/a Whole-Genome Screen To Discover Novel Immunotherapy Targets In Pediatric Leukaemia, Jacqelyn Nemechek, Bradley C. Stockard, Kealan Schroeder, Fang Tao, Jennifer Pace, John C. Means, Scott T. Younger, and John M. Perry
The Impact Of Antibody Fc Region Genetic Variance On Humoral Immunity, Stephen Pierce, Santosh Khanal, and Todd Bradley
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)
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)
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)
Adolescent perceptions of pharmacogenetic testing., Stephani L. Stancil, Courtney D. Berrios, and Susan M. Abdel-Rahman (Article)
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)
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)
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)
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)
High-Resolution Epigenome Analysis In Nasal Samples Derived From Children With Respiratory Viral Infections Reveals Striking Changes Upon Sars-Cov-2 Infection, Konner Winkley, Boryana Koseva, Dithi Banerjee, Warren A. Cheung, Rebecca L. Biswell, Daniel A. Louiselle, Nyshele L. Posey, Margaret Gibson, Ferdaus Hassan, Rangaraj Selvarangan, Tomi Pastinen, and Elin Grundberg
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)
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)
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)
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)
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)
Exploration Of Genetic Variation Beyond Leukocyte-Derived Germline DNA In A Pediatric Rare Disease Cohort, Tricia N. Zion, Daniel A. Louiselle, Laura M B Puckett, Nyshele L. Posey, Shelby H. Neal, Mary M. Elfrink, Brittany D. McDonald, Alexandra Greathouse, Bradley Belden, Suzanne Herd, Adam Walter, Margaret Gibson, Warren A. Cheung, Jeffrey J. Johnston, Ana S A Cohen, Isabelle Thiffault, Emily Farrow, Neil Miller, Tomi Pastinen, and Elin Grundberg
Works from 2020
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)
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)
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)
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)
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)
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)
Identification of functional regulatory elements in the human genome using pooled CRISPR screens., Samantha M. Borys and Scott T. Younger (Article)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
Communicating science: epigenetics in the spotlight., Stephanie O M Dyke, Catherine A. Ennis, Yann Joly, Jörn Walter, Reiner Siebert, and T Pastinen (Article)
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)
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)
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)
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)
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)
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)
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)
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery., Christopher Kurian, Gina Pinamonti, Susan Starling Hughes, Julie Martin, and Michael Lypka (Article)
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)
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)
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)
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)
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)
Targeting Natural Killer Cells for Improved Immunity and Control of the Adaptive Immune Response., Stephen Pierce, Eric S. Geanes, and Todd Bradley (Article)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
Single cell analysis reveals distinct immune landscapes in transplant and primary sarcomas that determine response or resistance to immunotherapy., Amy J. Wisdom, Yvonne M. Mowery, Cierra S. Hong, Jonathon E. Himes, Barzin Y. Nabet, Xiaodi Qin, Dadong Zhang, Lan Chen, Hélène Fradin, Rutulkumar Patel, Alex M. Bassil, Eric S. Muise, Daniel A. King, Eric S. Xu, David J. Carpenter, Collin L. Kent, Kimberly S. Smythe, Nerissa T. Williams, Lixia Luo, Yan Ma, Ash A. Alizadeh, Kouros Owzar, Maximilian Diehn, Todd Bradley, and David G. Kirsch (Article)
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)
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
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease., Andrea Accogli, Kether Guerrero, Maria Daniela D'Agostino, Luan Tran, Cécile Cieuta-Walti, Isabelle Thiffault, Sébastien Chénier, Jeremy Schwartzentruber, Jacek Majewski, and Geneviève Bernard (Article)
Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements., Fiona Allum, Åsa K. Hedman, Xiaojian Shao, Warren A. Cheung, Jinchu Vijay, Frédéric Guénard, Tony Kwan, Marie-Michelle Simon, Bing Ge, Cristiano Moura, Elodie Boulier, Lars Rönnblom, Sasha Bernatsky, Mark Lathrop, Mark I. McCarthy, Panos Deloukas, André Tchernof, T Pastinen, Marie-Claude Vohl, and Elin Grundberg (Article)
Comparison of the demographic characteristics of pediatric and adult colorectal cancer patients: a national inpatient sample based analysis., Thomas M. Attard and Caitlin E. Lawson (Article)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis., Ashot S. Harutyunyan, Brian Krug, Haifen Chen, Simon Papillon-Cavanagh, Michele Zeinieh, Nicolas De Jay, Shriya Deshmukh, Carol C L Chen, Jad Belle, Leonie G. Mikael, Dylan M. Marchione, Rui Li, Hamid Nikbakht, Bo Hu, Gael Cagnone, Warren A. Cheung, Abdulshakour Mohammadnia, Denise Bechet, Damien Faury, Melissa K. McConechy, Manav Pathania, Siddhant U. Jain, Benjamin Ellezam, Alexander G. Weil, Alexandre Montpetit, Paolo Salomoni, Tomi Pastinen, Chao Lu, Peter W. Lewis, Benjamin A. Garcia, Claudia L. Kleinman, Nada Jabado, and Jacek Majewski (Article)
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)
