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Submissions from 2022

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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

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome, Antonie D. Kline

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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

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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

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Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update, Natalie Blagowidow

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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

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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

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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

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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

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Defining renal phenotype in Alström syndrome, Clair Francomano

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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development, Amy Kimball

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Professor Laird Jackson, M.D., FFACMG (Physician, Scientist, Educator, and Advocate): 1930-2019, Antonie D. Kline and Ian Krantz

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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

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Au-Kline Syndrome, Ping-Yee Billie Au, A Micheil Innes, and Antonie D. Kline

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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

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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

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity, Antonie D. Kline

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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

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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

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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

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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

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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

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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

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Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review, Andrew W. Joseph, Shannon S. Joseph, Clair Francomano, and Theda C. Kontis

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De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism, Antonie D. Kline

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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement, Antonie D. Kline

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The effect of Ehlers-Danlos syndromes on TMJ function and craniofacial pain, John E. Mitakides

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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

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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

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Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016, Antonie D. Kline

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Noonan syndrome in diverse populations, Antonie D. Kline

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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

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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

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update, Amy Kimball and Antonie D. Kline

Submissions from 2015

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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

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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

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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

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling, Amy Kimball

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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

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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