DinaJZandMD

PubMed

• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
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• 5 citations
  Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary.
  Dina Zand, Jenny Doan, Sojeong Yi, Jie Wang, Lian Ma, Emmanuel Akinshola, Sushanta Chakder, J. Meyer, Michael Pacanowski, Laura Lee Johnson, Kathleen Donohue, Julie Beitz> ;Journal of Inherited Metabolic Disease. 2021 Mar 17
• 34 citations
  Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
  Andrea M. Gross, Megan N. Frone, Karen W. Gripp, Bruce D. Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Leslie G. Biesecker, Dominic Esposito, Edjay R. Hernandez, Er...> ;American Journal of Medical Genetics. Part A. 2020 Jan 8
• 60 citations
  Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
  Aman George, Dina J. Zand, Robert B. Hufnagel, Ruchi Sharma, Yuri V. Sergeev, Janet M. Legare, Gregory M. Rice, Jessica Scott Schwoerer, Mariana Rius, Laura H. Tetri, ...> ;American Journal of Human Genetics. 2016 Dec 1
• 44 citations
  De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
  Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben-Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veroniqu...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
• 8 citations
  Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
  Sarah E. Grams, Bob Argiropoulos, Matthew A. Lines, Pranesh Chakraborty, Jean McGowan-Jordan, Michael T. Geraghty, Marilyn Tsang, Marthand Eswara, Kamer Tezcan, Kelly ...> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 31 citations
  Malignancy in Noonan syndrome and related disorders
  Patroula Smpokou, Dina J. Zand, Kenneth N. Rosenbaum, Marshall L. Summar> ;Clinical Genetics. 2015 Dec 1
• 3 citations
  Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
  Debra S Regier, Eyby Leon, Debra R. Counts, Cynthia J. Tifft, Dina J. Zand> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
• An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.
  Maria J. Guillen Sacoto, Kimberly A. Chapman, Deneen Heath, Mary Beth Seprish, Dina J. Zand> ;Molecular Genetics and Metabolism Reports. 2015 Jun 1
• 4 citations
  Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
  Paul Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine B. Spector, Johan L.K. Van Hove, Kimberly A. Chapman> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
• 32 citations
  Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA
  Qian Zhao, Kazunori Okada, Kenneth N. Rosenbaum, Lindsay Kehoe, Dina J. Zand, Raymond W. Sze, Marshall L. Summar, Marius George Linguraru> ;Medical Image Analysis. 2014 Jul 1
• 42 citations
  Handheld Optical Coherence Tomography During Sedation in Young Children With Optic Pathway Gliomas
  Robert A. Avery, Eugene Hwang, Hiroshi Ishikawa, Maria T. Acosta, Kelly A. Hutcheson, Domiciano Santos, Dina J. Zand, Lindsay Kilburn, Kenneth N. Rosenbaum, Brian R. R...> ;JAMA Ophthalmology. 2014 Mar 1
• 25 citations
  Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
  Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina Cusmano-Ozog, Patroula Smpokou, Kimberly A. Ch...> ;Molecular Genetics and Metabolism Reports. 2014 Feb 11
• 5 citations
  Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
  Mauricio De Castro, Dina J. Zand, Uta Lichter-Konecki, Brian Kirmse> ;JIMD Reports. 2015 Feb 18
• 11 citations
  Automated down syndrome detection using facial photographs
  Qian Zhao, Kenneth N. Rosenbaum, Kazunori Okada, Dina J. Zand, Raymond W. Sze, Marshall L. Summar, Marius George Linguraru> ;Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference. 2013 Jul 3
• 43 citations
  Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis
  Karen W. Gripp, Dina J. Zand, Laurie A. Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley, Katia Sol-C...> ;American Journal of Medical Genetics. Part A. 2013 Aug 5
• 13 citations
  Hierarchical constrained local model using ICA and its application to Down syndrome detection.
  Qian Zhao, Kazunori Okada, Kenneth N. Rosenbaum, Dina J. Zand, Raymond W. Sze, Marshall L. Summar, Marius George Linguraru> ;Medical Image Computing and Computer-Assisted Intervention. 2013 Sep 22
• 19 citations
  Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
  Pranoot Tanpaiboon, Jennifer L. Sloan, Patrick F. Callahan, Dorothea McAreavey, P. Suzanne Hart, Uta Lichter-Konecki, Dina J. Zand, Charles P. Venditti> ;JIMD Reports. 2013 Aug 22
• 48 citations
  The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
  Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christi...> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
• 136 citations
  Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
  John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandr...> ;American Journal of Human Genetics. 2013 Jun 6
• 95 citations
  Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
  Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe Birk Jensen, Pierre Cochat, Stéphane Decramer...> ;Human Mutation. 2012 Mar 1
• 30 citations
  Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.
  Dina J. Zand, Kathleen M. Brown, Uta Lichter-Konecki, Joyce K. Campbell, Vesta Salehi, James M. Chamberlain> ;Pediatrics. 2008 Dec 1
• 25 citations
  Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disea...
  David Chitayat, Sarah Keating, Dina J. Zand, Teresa Costa, Elaine H. Zackai, Earl D. Silverman, George E. Tiller, Sheila Unger, Stephen F. Miller, John Kingdom, Ants T...> ;American Journal of Medical Genetics. Part A. 2008 Dec 1
• 17 citations
  Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase : A role for detailed molecular analysis in complex present...
  Matthew A. Deardorff, Himabindu Gaddipati, Paige Kaplan, Pedro A. Sanchez-Lara, Neal Sondheimer, Nancy B. Spinner, Hakon Hakonarson, Can Ficicioglu, Jaya Ganesh, Thoma...> ;Molecular Genetics and Metabolism. 2008 Aug 1
• 71 citations
  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
  William B. Dobyns, Ghayda M. Mirzaa, Susan L. Christian, Kristin Petras, Jessica A. Roseberry, Gary D. Clark, Cynthia J. Curry, Donna M. McDonald-McGinn, Livija Medne,...> ;American Journal of Medical Genetics. Part A. 2008 Jul 1
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