Publications by authors named "Dina J Zand"

23Publications

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

Am J Hum Genet 2016 Dec 23;99(6):1388-1394. Epub 2016 Nov 23.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address:

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December 2016

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.

Mol Genet Metab Rep 2015 Jun 13;3:47-54. Epub 2015 Apr 13.

Division of Genetics and Metabolism, Children's National Medical Center, 111 Michigan Avenue, N.W., Washington D.C. 20010, USA.

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June 2015

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Am J Med Genet A 2015 Aug 21;167A(8):1944-8. Epub 2015 Apr 21.

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC.

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August 2015

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

JIMD Rep 2015 18;20:1-4. Epub 2015 Feb 18.

Medical Genetics Branch, Department of Health and Human Services, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Room 1B207, Bethesda, MD, 20892-3717, USA,

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March 2015

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.

Mol Genet Metab Rep 2014 22;1:237-240. Epub 2014 May 22.

Department of Genetics and Metabolism, Children's National Health Center, Washington, DC, USA.

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May 2014

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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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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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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March 2014

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

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June 2013

Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.

Pediatrics 2008 Dec;122(6):1191-5

Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Children's National Medical Center, 111 Michigan Ave, NW, Washington, DC 20010, USA.

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December 2008

Single-gene autosomal recessive disorders and Prader-Willi syndrome: an update for food and nutrition professionals.

J Am Diet Assoc 2007 Mar;107(3):466-78

Division of Genetics and Metabolism, Children's National Medical Center, Compass Group USA Division, Washington, DC 20010, USA.

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March 2007

Autosomal dominant inheritance of infantile myofibromatosis.

Am J Med Genet A 2004 Apr;126A(3):261-6

Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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April 2004

In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.

AJNR Am J Neuroradiol 2003 Aug;24(7):1471-4

Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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August 2003

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

Am J Med Genet A 2003 Apr;118A(3):223-8

Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA.

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April 2003