Kenneth Rosenbaum

Kenneth Rosenbaum

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Kenneth Rosenbaum

Kenneth Rosenbaum

Publications by authors named "Kenneth Rosenbaum"

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome.

Paediatr Anaesth 2016 Apr 9;26(4):356-62. Epub 2016 Jan 9.

Division of Genetics & Metabolism, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1111/pan.12841DOI Listing
April 2016

Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.

Adv Neonatal Care 2015 Aug;15(4):248-52

Division of Genetics & Metabolism, Children's National Health System, Washington, DC (Drs Smpokou, Lanpher, and Rosenbaum); and Department of Pediatrics, The George Washington School of Medicine & Health Sciences, Washington, DC (Drs Smpokou, Lanpher, and Rosenbaum).

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http://dx.doi.org/10.1097/ANC.0000000000000216DOI Listing
August 2015

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

Am J Hum Genet 2015 Mar 26;96(3):507-13. Epub 2015 Feb 26.

Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ajhg.2015.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375419PMC
March 2015

Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.

Med Image Anal 2014 Jul 15;18(5):699-710. Epub 2014 Apr 15.

Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, United States; School of Medicine and Health Sciences, George Washington University, Washington, DC, United States.

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http://dx.doi.org/10.1016/j.media.2014.04.002DOI Listing
July 2014

Hierarchical constrained local model using ICA and its application to Down syndrome detection.

Med Image Comput Comput Assist Interv 2013 ;16(Pt 2):222-9

Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1007/978-3-642-40763-5_28DOI Listing
April 2014

Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.

JAMA Ophthalmol 2014 Mar;132(3):265-71

The Gilbert Family Neurofibromatosis Institute, Children's National Medical Center, Washington, DC2Department of Neurology, Children's National Medical Center, Washington, DC6Department of Oncology, Children's National Medical Center, Washington, DC7The B.

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http://dx.doi.org/10.1001/jamaophthalmol.2013.7649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445404PMC
March 2014

Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study.

Pediatr Neurol 2011 Oct;45(4):241-5

Department of Neurology, Jennifer and Daniel Gilbert Neurofibromatosis Institute, Children's National Medical Center, Washington, D.C. 20010, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.016DOI Listing
October 2011

Recovery of damages for wrongful birth.

J Leg Med 2011 Apr;32(2):167-204

Whitney & Bogris, LLP, Towson, MD, USA.

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http://dx.doi.org/10.1080/01947648.2011.576616DOI Listing
April 2011

Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.

Clin Neuropsychol 2010 Oct;24(7):1181-92

Department of Neuropsychology, Kennedy Krieger Institute, 1750 East Fairmount Ave., Baltimore, MD 21231, USA.

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http://dx.doi.org/10.1080/13854046.2010.506198DOI Listing
October 2010

Holoprosencephaly due to numeric chromosome abnormalities.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):146-8

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ajmg.c.30232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815046PMC
February 2010

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Nat Genet 2007 Mar 4;39(3):359-65. Epub 2007 Feb 4.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ng1968DOI Listing
March 2007

Quantitative dysmorphology assessment in Fabry disease.

Genet Med 2006 Feb;8(2):96-101

Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA.

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http://dx.doi.org/10.109701.gim.0000200950.25118.ddDOI Listing
February 2006