Submissions from 2023
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions, Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C.Y. Loo, Lauren A. Lairson, Solveig Oskarsdottir, Erik Boot, Sixto Garcia-Minaur, Maria Christina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, and Donna M. McDonald-McGinn
Submissions from 2022
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome, Kristin W. Baranano, Amy Kimball, Susan L. Fong, Alena S. Egense, Catherine Hudon, and Antonie D. Kline
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome, Antonie D. Kline
Cornelia de Lange syndrome and cancer: An open question, Maria M. Pallotta, Maddalena Di Nardo, Raoul C. Hennekam, Frank J. Kaiser, Ilaria Parenti, Juan Pie, Feliciano J. Ramos, Antonie D. Kline, and Antonio Musio
Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome, You Wang, Julia L. Clemens, Michael Muriello, Weiyi Mu, Christy H. Smith, Phuong T. Tran, Peter C. Rowe, Clair Francomano, Antonie D. Kline, and Joann Bodurtha
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program, Haichen Zhang, Jeffrey W. Kleinberger, Kristin A. Maloney, Yue Guan, Trevor J. Mathias, Katharine Bisordi, Elizabeth A. Streeten, Kristina Blessing, Lee A. Bromberger, Jessica Goehringer, Amy Kimball, Coleen M. Damcott, Casey O. Taylor, Michaela Nicholson, Devon Nwaba, Kathleen Palmer, Danielle Sewell, Nicholas Ambulos, Linda B. Jeng, and Philip A. Levin
Submissions from 2021
Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update, Natalie Blagowidow
Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020, Chris Oliver, Laura Groves, Blake D. Hansen, Masoud Salehi, Shaydah Kheradmand, Cheri S. Carrico, Patti Caudill, Mark Mattingly, Dale Dorsett, Stephenson Chea, Vijay P. Singh, Ian Krantz, Sylvia Huisman, Matthew A. Deardorff, and Antonie D. Kline
High rate of autonomic neuropathy in Cornelia de Lange Syndrome, MJ Pablo, P Pamplona, M Haddad, I Benevente, A Latorre-Pellicer, M Arnedo, L Trujillano, G Bueno-Lozano, LM Kerr, SA Huisman, FJ Kaiser, F Ramos, Antonie D. Kline, J Pie, and B Puisac
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome, Siddharth Srivastava, Bennett Clark, Colleen Landy-Schmitt, Elizabeth A. Offermann, Antonie D. Kline, Samuel T. Wilkinson, and Marco A. Grados
Submissions from 2020
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review, Mohammed A. Almuqbil, Hilary J. Vernon, Marcia Ferguson, and Antonie D. Kline
Defining renal phenotype in Alström syndrome, Clair Francomano
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development, Amy Kimball
Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930-2019, Antonie D. Kline and Ian Krantz
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences, Anita Louie, Catherine Meyerle, Clair Francomano, Divya Srikumaran, Farhan Merali, Jefferson J. Doyle, Kraig Bower, Lara Bloom, Michael V. Boland, Nicholas Mahoney, Yassine Daoud, and Eric L. Singman
Submissions from 2019
Au-Kline Syndrome, Ping-Yee Billie Au, A Micheil Innes, and Antonie D. Kline
Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization, Rebecca Bascom, Jane R. Schubart, Susan Mills, Thomas Smith, Linda M. Zukley, Clair Francomano, and Nazli McDonnell
Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization, Fraser C. Henderson Sr, Clair Francomano, M Koby, K Tuchman, Jessica Adcock, and S Patel
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity, Antonie D. Kline
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders, Weiyi Mu, Michael Muriello, Julia L. Clemens, You Wang, Christy H. Smith, Phuong T. Tran, Peter C. Rowe, Clair Francomano, Antonie D. Kline, and Joann Bodurtha
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population, Jane R. Schubart, Eric Schaefer, Alan J. Hakim, Clair Francomano, and Rebecca Bascom
Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study, Jane R. Schubart, Amber Schilling, Eric Schaefer, Rebecca Bascom, and Clair Francomano
Submissions from 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature, P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K. Grange, Gail E. Graham, Carolina Galarreta, Marilyn C. Jones, Usha Kini, Helen Stewart, Jillian S. Parboosingh, Antonie D. Kline, A Micheil Innes, and Care For Rare Canada Consortium
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome, Patrick R. Blackburn, Zhi Xu, Kathleen E. Tumelty, Rose W. Zhao, William J. Monis, Kimberly G. Harris, Jennifer M. Gass, Margot A. Cousin, Nicole J. Boczek, Mario V. Mitkov, Mark A. Cappel, Clair Francomano, Joseph E. Parisi, Eric W. Klee, Eissa Faqeih, Fowzan S. Alkuraya, Matthew D. Layne, Nazli McDonnell, and Paldeep S. Atwal
Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo, Dubravka Cukrov, Trent A C Newman, Megan Leask, Bryony Leeke, Patrizia Sarogni, Alessandra Patimo, Antonie D. Kline, Ian Krantz, Julia A. Horsfield, and Antonio Musio
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review, Andrew W. Joseph, Shannon S. Joseph, Clair Francomano, and Theda C. Kontis
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism, Antonie D. Kline
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement, Antonie D. Kline
The effect of Ehlers-Danlos syndromes on TMJ function and craniofacial pain, John E. Mitakides
Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes, Michael Muriello, Julia L. Clemens, Weiyi Mu, Phuong T. Tran, Peter C. Rowe, Christy H. Smith, Clair Francomano, Joann Bodurtha, and Antonie D. Kline
Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome, Maria Roma, Colleen L. Marden, Inge De Wandele, Clair Francomano, and Peter C. Rowe
Submissions from 2017
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016, Antonie D. Kline
Noonan syndrome in diverse populations, Antonie D. Kline
The Dynamics of a Genetic Counseling Peer Supervision Group, Katie L. Lewis, Lori A H Erby, Amanda L. Bergner, E Kate Reed, Maria R. Johnson, Jessica Adcock, and Meredith A. Weaver
Submissions from 2016
Improvement in hearing loss over time in Cornelia de Lange syndrome, Kevin C. Janek, David F. Smith, Antonie D. Kline, James R. Benke, Mei-Ling Chen, Amy Kimball, and Stacy L. Ishman
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update, Amy Kimball and Antonie D. Kline
Submissions from 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK, PY Billie Au, Jing You, Oana Caluseriu, Jeremy Schwartzentruber, Jacek Majewski, Francois P. Bernier, Marcia Ferguson, Care for Rare Canada Consortium, David Valle, Jillian S. Parboosingh, Nara Sobreira, A Micheil Innes, and Antonie D. Kline
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay, Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria L. Uzielli, Chad Haldeman-Englert, Raoul C. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Malgorzata J. Nowaczyk, and Jolien S. Wassink-Ruiter
Airway obstruction after lingual frenulectomy in two infants with Pierre-Robin Sequence, Dane J. Genther, Margaret L. Skinner, Patti J. Bailey, Randolph B. Capone, and Patrick J. Byrne
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium, Antonie D. Kline
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium, Antonie D. Kline, Anne L. Calof, Arthur D. Lander, Jennifer L. Gerton, Ian Krantz, Dale Dorsett, Matthew A. Deardorff, Natalie Blagowidow, Kyoko Yokomori, Katsuhiko Shirahige, Rosaysela Santos, Julie Woodman, Paul C. Megee, Julia T. O'Connor, Alena S. Egense, Sarah Noon, Maurice Belote, Marjorie T. Goodban, Blake D. Hansen, and Jenni Glad Timmons