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Author Details

Dina J Zand
Center for Drug Evaluation and Research
1989
36
22
PMIDPaper TitleJournal TitlePublished Year
33729583Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary.J Inherit Metab Dis2021
33783954Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.Am J Med Genet A2021
31913576Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.Am J Med Genet A2020
26692240Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.Am J Med Genet A2016
27889061Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.Am J Hum Genet2016
25690727Severe neonatal holocarboxylase synthetase deficiency in west african siblings.JIMD Rep2015
27148570De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.Cold Spring Harb Mol Case Stud2015
26937396An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.Mol Genet Metab Rep2015
25900722Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.Am J Med Genet A2015
25683281Malignancy in Noonan syndrome and related disorders.Clin Genet2015
24435762Handheld optical coherence tomography during sedation in young children with optic pathway gliomas.JAMA Ophthalmol2014
27896094Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.Mol Genet Metab Rep2014
27896076Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.Mol Genet Metab Rep2014
24835178Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.Med Image Anal2014
23430797Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.JIMD Rep2013
24579144Hierarchical constrained local model using ICA and its application to Down syndrome detection.Med Image Comput Comput Assist Interv2013
24110526Automated Down syndrome detection using facial photographs.Annu Int Conf IEEE Eng Med Biol Soc2013
23918763Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.Am J Med Genet A2013
23813913The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.Am J Med Genet A2013
23731542Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.Am J Hum Genet2013
22213154Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.Hum Mutat2012
18160706Sizn1 is a novel protein that functions as a transcriptional coactivator of bone morphogenic protein signaling.Mol Cell Biol2008
19047233Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.Pediatrics2008
19006208Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.Am J Med Genet A2008
18536050Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.Am J Med Genet A2008
18524659Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.Mol Genet Metab2008
17324666Single-gene autosomal recessive disorders and Prader-Willi syndrome: an update for food and nutrition professionals.J Am Diet Assoc2007
15054839Autosomal dominant inheritance of infantile myofibromatosis.Am J Med Genet A2004
12673651Crane-Heise syndrome: a second familial case report with elaboration of phenotype.Am J Med Genet A2003
12917150In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.AJNR Am J Neuroradiol2003
8631309Retinoic acid-mediated down-regulation of Oct3/4 coincides with the loss of promoter occupancy in vivo.EMBO J1996
7854354T cell activation and increases in protein kinase C activity enhance retinoic acid-induced gene transcription.Mol Endocrinol1994
8264603Dominant negative retinoid X receptor beta inhibits retinoic acid-responsive gene regulation in embryonal carcinoma cells.Mol Cell Biol1994
7690857Immunoreactivity of PMP-22, P0, and other 19 to 28 kDa glycoproteins in peripheral nerve myelin of mammals and fish with HNK1 and related antibodies.J Neurosci Res1993
1713613High expression of the HNK-1/L2 carbohydrate epitope in the major glycoproteins of shark myelin.J Neurochem1991
2796986Hemin-induced transcriptional activation of the HSP70 gene during erythroid maturation in K562 cells is due to a heat shock factor-mediated stress response.Mol Cell Biol1989
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Collaborators

Children's Hospital of Philadelphia
Co-authored papers 7
Rare Disease Institute, Children's National Hospital
Co-authored papers 5
University of Minnesota
Co-authored papers 3
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 3
George Washington University School of Medicine and Health Sciences
Co-authored papers 3
Children's Hospital of Philadelphia
Co-authored papers 3
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Seattle Children's Hospital.
Co-authored papers 1
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Perelman School of Medicine, University of Pennsylvania
Co-authored papers 1
University of Washington
Co-authored papers 1
Broad Institute of MIT and Harvard
Co-authored papers 1
NYU Grossman School of Medicine
Co-authored papers 1
Co-authored papers 1
National Institutes of Health
Co-authored papers 1
Mount Sinai Hospital, University of Toronto
Co-authored papers 1
Kennedy Krieger Institute
Co-authored papers 1
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 1
Co-authored papers 1
National Institutes of Health
Co-authored papers 1
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Mayo Clinic
Co-authored papers 1
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Mie University School of Medicine, NYU School of Medicine, New York Medical College, New York University School of Medicine, Oregon Health & Science University, Tufts University School of Medicine, University of Pittsburgh School of Medicine, University of Pittsburgh School of Mediine
Co-authored papers 1
Brain Tumor Institute, Children's National Hospital
Co-authored papers 1
Seattle Children's Research Institute
Co-authored papers 1
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
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Sidra Medical and Research Center
Co-authored papers 1
Children's National Hospital
Co-authored papers 1