Selected Publications

Kaplan Paige, Baris Hagit, De Meirleir Linda, Di Rocco Maja, El-Beshlawy Amal, Huemer Martina, Martins Ana Maria, Nascu Ioana, Rohrbach Marianne, Steinbach Lynne, Cohen Ian J: Revised recommendations for the management of Gaucher disease in children. European journal of pediatrics Jul 2012.

Collins R Thomas, Aziz Peter F, Swearingen Christopher J, Kaplan Paige B: Relation of ventricular ectopic complexes to QTc interval on ambulatory electrocardiograms in Williams syndrome. The American journal of cardiology 109(11): 1671-6, Jun 2012.

D'Aco Kristin, Underhill Lisa, Rangachari Lakshmi, Arn Pamela, Cox Gerald F, Giugliani Roberto, Okuyama Torayuki, Wijburg Frits, Kaplan Paige: Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. European journal of pediatrics 171(6): 911-9, Jun 2012.

Kallish S, Kaplan P.: A severIty score for children with type I Gaucher disease Eur J Pediatr Springer-Verlag 2012.

Mason Thornton B A, Arens Raanan, Sharman Jaclyn, Bintliff-Janisak Brooke, Schultz Brian, Walters Arthur S, Cater Jacqueline R, Kaplan Paige, Pack Allan I: Sleep in children with Williams Syndrome. Sleep medicine 12(9): 892-7, Oct 2011.

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti M T, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe J R, Vanderver A: GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 77(13): 1287-94, Sep 2011.

Mistry Pramod K, Weinreb Neal J, Kaplan Paige, Cole J Alexander, Gwosdow Andrea R, Hangartner Thomas: Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood cells, molecules & diseases 46(1): 66-72, Jan 2011.

Collins R Thomas, Aziz Peter F, Gleason Marie M, Kaplan Paige B, Shah Maully J: Abnormalities of cardiac repolarization in Williams syndrome. The American journal of cardiology 106(7): 1029-33, Oct 2010.

Sampson Matthew G, Coughlin Curtis R, Kaplan Paige, Conlin Laura K, Meyers Kevin E C, Zackai Elaine H, Spinner Nancy B, Copelovitch Lawrence: Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. American journal of medical genetics. Part A 152A(10): 2618-22, Oct 2010.

Collins R Thomas, Kaplan Paige, Rome Jonathan J: Stenosis of the thoracic aorta in Williams syndrome. Pediatric cardiology 31(6): 829-33, Aug 2010.