Publications by authors named "Carolyn D Applegate"

13Publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Nov 5. Epub 2020 Nov 5.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/brain/awaa304DOI Listing
November 2020

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.

Mol Genet Genomic Med 2020 02 8;8(2):e1072. Epub 2019 Dec 8.

McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/mgg3.1072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005614PMC
February 2020

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

Am J Hum Genet 2019 07 6;105(1):48-64. Epub 2019 Jun 6.

Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91240, Israel; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2019.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612515PMC
July 2019

Diagnostic utility of telomere length testing in a hospital-based setting.

Proc Natl Acad Sci U S A 2018 03 20;115(10):E2358-E2365. Epub 2018 Feb 20.

Department of Oncology and Sidney Kimmel Comprehensive Cancer Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21287;

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http://dx.doi.org/10.1073/pnas.1720427115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877993PMC
March 2018

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.

Sci Transl Med 2016 08;8(351):351ra107

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1126/scitranslmed.aaf7837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351811PMC
August 2016

CRB1-Related Maculopathy With Cystoid Macular Edema.

JAMA Ophthalmol 2015 Nov;133(11):1357-60

Department of Ophthalmology, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.2814DOI Listing
November 2015

The impact of chromosomal microarray on clinical management: a retrospective analysis.

Genet Med 2014 Sep 13;16(9):657-64. Epub 2014 Mar 13.

1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA [2] Cytogenetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland, USA [3] Department of Pathology, Johns Hopkins University, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.18DOI Listing
September 2014

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Mov Disord 2013 Dec 18;28(14):1937-8. Epub 2013 Oct 18.

Department of Neurology, The Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1002/mds.25703DOI Listing
December 2013

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Am J Med Genet A 2012 Jun 14;158A(6):1414-21. Epub 2012 May 14.

McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35363
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101836PMC
June 2012