AntonieDKlineMD

PubMed

• Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.
  Rowena Ng, Julia O'Connor, Deirdre Summa, Antonie D Kline> ;Orphanet Journal of Rare Diseases. 2024 Mar 10
• 3 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 7 citations
  Pediatric joint hypermobility: a diagnostic framework and narrative review.
  Louise Jane Tofts, Jane Simmonds, Sarah B Schwartz, Roberto M Richheimer, Constance O'Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T Tinkle, Antonie D Klin...> ;Orphanet Journal of Rare Diseases. 2023 May 4
• 1 citations
  Cornelia de Lange syndrome and cancer: An open question.
  Maria M Pallotta, Maddalena Di Nardo, Raoul C M Hennekam, Frank J Kaiser, Ilaria Parenti, Juan Pié, Feliciano J Ramos, Antonie D Kline, Antonio Musio> ;American Journal of Medical Genetics. Part A. 2023 Jan 1
• 9 citations
  An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
  Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T Bjornsson, Jacqueline Harris, David A Dyment, Gail E Graham, Marjan M Nezarat...> ;American Journal of Human Genetics. 2022 Oct 6
• 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, Joann Bodurtha> ;Journal of Child Health Care. 2022 Sep 21
• 4 citations
  Further Characterization ofLoss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
  Kristin W Barañano, Amy Kimball, Susan L Fong, Alena S Egense, Catherine Hudon, Antonie D Kline> ;Journal of Child Neurology. 2022 Apr 1
• 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 Pra...> ;American Journal of Medical Genetics. Part A. 2022 Mar 1
• 1 citations
  High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
  Maria Jesus Pablo, Pilar Pamplona, Maria Haddad, Isabel Benavente, Ana Latorre-Pellicer, María Teresa Echeverría Arnedo, Laura Trujillano, Gloria Bueno-Lozano, Lynne M...> ;Orphanet Journal of Rare Diseases. 2021 Jun 7
• 17 citations
  Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
  Dervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Etienne Coyaud, Estelle M.N. Laurent, Jonatha...> ;American Journal of Human Genetics. 2020 Oct 1
• 3 citations
  PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review
  Mohammed A. Almuqbil, Hilary J. Vernon, Marcia Ferguson, Antonie D. Kline> ;Molecular Genetics and Metabolism Reports. 2020 Sep 1
• 1 citations
  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, Marco A. Grados> ;Journal of Autism and Developmental Disorders. 2021 May 1
• 1 citations
  Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 May 1
• 18 citations
  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity
  Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Mengge Zhao, Chunhua Weng, Piatek G. Stefan, Helena Ahlfors, Robert Kleyner, Alan F. Rope, Aimé Lu...> ;Human Mutation. 2020 Feb 1
• 2 citations
  Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018
  Antonie D. Kline, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige, Stephenson Chea, Toyonori Sakata, Suhas S.P. Rao, Dale Dorsett, Vijay Pratap Singh, Jennifer L. ...> ;American Journal of Medical Genetics. Part A. 2019 Jun 1
• 30 citations
  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 A. Francomano, Antonie D. Kline, Joann Bodurtha> ;American Journal of Medical Genetics. Part A. 2019 Apr 1
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 19 citations
  Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
  Dubravka Cukrov, Trent Newman, Megan Leask, Bryony Leeke, Patrizia Sarogni, Alessandra Patimo, Antonie D. Kline, Ian D. Krantz, Julia A. Horsfield, Antonio Musio> ;Human Molecular Genetics. 2018 Sep 1
• 10 citations
  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 A. Francomano, Joann Bodurtha, Antonie D. Kline> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 12 citations
  De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
  Yanjie Fan, Wu Yin, Bing Hu, Antonie D. Kline, Victor Wei Zhang, Desheng Liang, Yu Sun, Lili Wang, Sha Tang, Zöe Powis, Lei Li, Huifang Yan, Zhen Shi, Xiaoping Yang, Y...> ;American Journal of Human Genetics. 2018 Sep 6
• 178 citations
  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
  Antonie D. Kline, Joanna Moss, Angelo Selicorni, Anne Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. M...> ;Nature Reviews. Genetics. 2018 Oct 1
• 22 citations
  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 J. Wierenga, Elizabeth A. Fanning, Dorothy K. Grange, Gail E. Graham, Car...> ;European Journal of Human Genetics. 2018 Jun 14
• 57 citations
  Noonan syndrome in diverse populations
  Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K.C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-...> ;American Journal of Medical Genetics. Part A. 2017 Jul 27
• Cover Image, Volume 173A, Number 9, September 2017
  Pranoot Tanpaiboon, Marshall Summar, Antonie D Kline, Patroula Smpokou, Steven A Skinner> ;American Journal of Medical Genetics Part A. 2017 Aug 18
• 11 citations
  Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016
  Antonie D. Kline, Ian D. Krantz, Matthew A. Deardorff, Katsuhiko Shirahige, Dale Dorsett, Jennifer L. Gerton, Meng Wu, Devanshi Mehta, Jason A. Mills, Cheri S. Carrico...> ;American Journal of Medical Genetics. Part A. 2017 Feb 12
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Journal Articles

• Pain and Sleep Quality in Children with Non‐Vascular Ehlers–Danlos Syndromes  
  Antonie D Kline, Weiyi Mu, Peter C Rowe, Clair Francomano, Joann Bodurtha, American Journal of Medical Genetics Part A
• Diagnosis and Management of Cornelia De Lange Syndrome: First International Consensus Statement  
  Marco Grados, Antonie D Kline, Matthew A Deardorff, Natalie Blagowidow, Stacey L Ishman, Alex V Levin, Nature