PaigeBKaplanMD

PubMed

• Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
  C. Bascunana, J. El Helou, Frank Rauch, Ghalib Bardai, Francis H. Glorieux, J.-B. Riviere, Peter H. Byers, Paige Kaplan, David S. Rosenblatt> ;Molecular Genetics and Metabolism. 2020 Jul 8
• 35 citations
  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
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• 20 citations
  The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK
  Solmi Cheon, Kiran J Kaur, Nadine Nijem, Islam Oguz Tuncay, Pooja Kumar, Milan Dean, Jane Juusola, Maria J. Guillen-Sacoto, Emma Bedoukian, Lynne Ierardi-Curto, Paige ...> ;Proceedings of the National Academy of Sciences of the United States of America. 2019 Feb 26
• 3 citations
  Glaucoma and degenerative vitreoretinopathy in a girl with Nicolaides-Baraitser syndrome.
  Sonia Sethi, Avrey Thau, Paige Kaplan, Stephanie B. Asher, Alex V. Levin> ;Journal of AAPOS. 2019 Jan 29
• 21 citations
  Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
  Alyssa Ritter, Carey McDougall, Cara M. Skraban, Livija Medne, Emma Bedoukian, Stephanie B. Asher, Jorune Balciuniene, Colleen D. Campbell, Samuel W. Baker, Elizabeth ...> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 25 citations
  Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International ...
  Pramod K. Mistry, Julie L. Batista, Hans C. Andersson, Manisha Balwani, Thomas A. Burrow, Joel Charrow, Paige Kaplan, Aneal Khan, Priya S. Kishnani, Edwin H. Kolodny, ...> ;American Journal of Hematology. 2017 Jul 7
• 49 citations
  Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
  Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C. Ronald Scott, David W. Stockton, Janet A. Thomas, Jos...> ;The Journal of Pediatrics. 2017 Mar 1
• 13 citations
  Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
  Rebecca C. Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, Sanmati Cuddapah, Jessica Burfield, Jennifer Blair, Ligia Brochi, Marc Yudkoff, Can Ficicioglu> ;Genetics in Medicine. 2017 Feb 2
• 13 citations
  Low bone mineral density is a common finding in patients with homocystinuria
  David R. Weber, Curtis R. Coughlin, Jill L. Brodsky, Kristin Lindstrom, Can Ficicioglu, Paige Kaplan, Cynthia Freehauf, Michael A. Levine> ;Molecular Genetics and Metabolism. 2016 Mar 1
• 45 citations
  Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
  Manisha Balwani, Thomas A. Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan, Priya S. Kishnani, Pramod K. Mistry, Jeremy N. Ruskin, Neal J. Weinreb> ;Molecular Genetics and Metabolism. 2016 Feb 1
• 26 citations
  Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
  Lucas Bonafede, Can Ficicioglu, Leona W. Serrano, Grace K. Han, Jessica I. W. Morgan, Monte D. Mills, Brian J. Forbes, Stefanie L. Davidson, Gil Binenbaum, Paige Kapla...> ;Investigative Ophthalmology & Visual Science. 2015 Dec 1
• 43 citations
  Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience
  Sobenna George, David R. Weber, Paige Kaplan, Kelly Hummel, Heather M. Monk, Michael A. Levine> ;The Journal of Clinical Endocrinology and Metabolism. 2015 Aug 26
• Atypical Williams syndrome in an infant with complete atrioventricular canal defect.
  Rebecca C. Ahrens-Nicklas, Sara L. Reichert, Elaine H. Zackai, Paige Kaplan> ;American Journal of Medical Genetics. Part A. 2015 Dec 1
• 2 citations
  Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome.
  Venusa Phomakay, Jeffrey M. Gossett, Paige Kaplan, Christopher J. Swearingen, R. Thomas Collins> ;Congenital Heart Disease. 2015 Jul 1
• 15 citations
  The history and accomplishments of the ICGG Gaucher registry.
  Neal J. Weinreb, Paige Kaplan> ;American Journal of Hematology. 2015 Jun 22
• 13 citations
  Quantification of Bone Marrow Involvement in Treated Gaucher Disease With Proton MR Spectroscopy: Correlation With Bone Marrow MRI Scores and Clinical Status
  Diego Jaramillo, Maria A. Bedoya, Dah Jyuu Wang, Andres H. Pena, Jorge Delgado, Camilo Jaimes, Victor Ho-Fung, Paige Kaplan> ;AJR. American Journal of Roentgenology. 2015 May 22
• 103 citations
  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, Mar...> ;American Journal of Human Genetics. 2015 Mar 5
• 59 citations
  Revised recommendations for the management of Gaucher disease in children
  Paige Kaplan, Hagit N. Baris, Linda De Meirleir, Maja Di Rocco, Amal El-Beshlawy, Martina Huemer, Ana Maria Martins, Ioana Nascu, Marianne Rohrbach, Lynne S. Steinbach...> ;European Journal of Pediatrics. 2013 Apr 1
• 8 citations
  Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism
  Marta Guttenberg, Paige Kaplan, David Watkins, David S. Rosenblatt, James R. Treat, Bernard S. Kaplan, Paul, E., Erin A. Paul> ;Pediatric Nephrology. 2013 Mar 19
• 16 citations
  Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome
  Maria Delio, Kathleen Pope, Tao Wang, Joy Samanich, Chad R. Haldeman-Englert, Paige Kaplan, Tamim H. Shaikh, Jinlu Cai, Robert W. Marion, Bernice E. Morrow, Melanie Ba...> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 8 citations
  A disease severity scoring system for children with type 1 Gaucher disease
  Staci Kallish, Paige Kaplan> ;European Journal of Pediatrics. 2013 Jan 1
• 9 citations
  Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome.
  R. Thomas Collins, Peter F. Aziz, Christopher J. Swearingen, Paige Kaplan> ;The American Journal of Cardiology. 2012 Jun 1
• 61 citations
  Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
  Kristin D'Aco, Lisa H. Underhill, Lakshmi Rangachari, Pamela Arn, Gerald F. Cox, Roberto Giugliani, Torayuki Okuyama, Frits A. Wijburg, Paige Kaplan> ;European Journal of Pediatrics. 2012 Jan 11
• 40 citations
  Sleep in Children with Williams Syndrome
  Thornton B.A. Mason, Raanan Arens, Jaclyn Sharman, Brooke Bintliff-Janisak, Brian Schultz, Arthur S. Walters, Jacqueline R. Cater, Paige Kaplan, Allan I. Pack> ;Sleep Medicine. 2011 Oct 1
• 161 citations
  GFAP mutations, age at onset, and clinical subtypes in Alexander disease
  Morgan Prust, Jichuan Wang, Hiroki Morizono, Albee Messing, Michael Brenner, Erynn Gordon, Thomas R. Hartka, A. Sokohl, Raphael Schiffmann, Heather Gordish-Dressman, R...> ;Neurology. 2011 Sep 27
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Journal Articles

• Variable Clinical Manifestations of Xia‐Gibbs Syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital  
  Carey McDougall, Elaine H Zackai, Paige Kaplan, Kosuke Izumi, Emma C Bedoukian, Stephanie B Asher, Livija Medne, Ian D Krantz, American Journal of Medical Genetics Part A