Research Output 1983 2016

2016

Development of paroxysmal nocturnal hemoglobinuria in CALR-positive myeloproliferative neoplasm

Fraiman, Y. S., Cuka, N., Batista, D., Vuica-Ross, M. V. & Moliterno, A. R. May 30 2016 In : Journal of Blood Medicine. 7, p. 107-110 4 p.

Research output: Research - peer-reviewArticle

Paroxysmal Hemoglobinuria
Mutation
Neoplasms
Bone Marrow
Survival

NUP98-PHF23 fusion is recurrent in acute myeloid leukemia and shares gene expression signature of leukemic stem cells

Ho, H., Skaist, A. M., Pallavajjala, A., Yonescu, R., Batista, D., Wheelan, S. J. & Ning, Y. Jun 1 2016 In : Leukemia Research. 45, p. 1-7 7 p.

Research output: Research - peer-reviewArticle

Nuclear Pore Complex Proteins
Plant Genes
Transcriptome
Acute Myeloid Leukemia
Stem Cells

Tumor-infiltrating macrophages in post-transplant, relapsed classical Hodgkin lymphoma are donor-derived

Crane, G. M., Samols, M. A., Morsberger, L. A., Yonescu, R., Thiess, M. L., Batista, D. A. S., Ning, Y., Burns, K. H., Vuica-Ross, M., Borowitz, M. J., Gocke, C. D., Ambinder, R. F. & Duffield, A. S. Sep 1 2016 In : PLoS One. 11, 9, e0163559

Research output: Research - peer-reviewArticle

Hodgkin Disease
Macrophages
Tissue Donors
Transplants
Neoplasms
2015
Genomic Segmental Duplications
Thumb
Missense Mutation
Radioulnar Synostosis
DiGeorge Syndrome

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

Gottschalk, L. B., Vecchio-Pagan, B., Sharma, N., Han, S. T., Franca, A., Wohler, E. S., Batista, D. A. S., Goff, L. A. & Cutting, G. R. Sep 9 2015 (Accepted/In press) In : Journal of Cystic Fibrosis.

Research output: Research - peer-reviewArticle

Epithelial Cells
Cell Line
Genetic Recombination
Complementary DNA
RNA Sequence Analysis

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

Weiss, K., Applegate, C., Wang, T. & Batista, D. A. S. Nov 1 2015 In : American Journal of Medical Genetics, Part A. 167, 11, p. 2702-2706 5 p.

Research output: Research - peer-reviewArticle

Tetralogy of Fallot
Congenital Heart Defects
Haploinsufficiency
Heart Valves
Phenotype

Genetic profiling by single-nucleotide polymorphism-based array analysis defines three distinct subtypes of orbital meningioma

Ho, C. Y., Mosier, S., Safneck, J., Salomao, D. R., Miller, N. R., Eberhart, C. G., Gocke, C. D., Batista, D. A. S. & Rodriguez, F. J. Mar 1 2015 In : Brain Pathology. 25, 2, p. 193-201 9 p.

Research output: Research - peer-reviewArticle

Meningioma
Single Nucleotide Polymorphism
Optic Nerve
Neoplasms
Chromosomes

Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings

Vernon, H. J., Mcclellan, R., Batista, D. A. & Naidu, S. May 1 2015 In : American Journal of Medical Genetics, Part A. 167, 5, p. 1147-1151 5 p.

Research output: Research - peer-reviewArticle

Mitochondrial Diseases
Siblings
Mutation
Exons
Phenylalanine-tRNA Ligase

Transflip mutations produce deletions in pancreatic cancer

Norris, A. L., Kamiyama, H., Makohon-Moore, A., Pallavajjala, A., Morsberger, L. A., Lee, K., Batista, D., Iacobuzio-Donahue, C. A., Lin, M. T., Klein, A. P., Hruban, R. H., Wheelan, S. J. & Eshleman, J. R. Aug 1 2015 In : Genes Chromosomes and Cancer. 54, 8, p. 472-481 10 p.

Research output: Research - peer-reviewArticle

Sequence Deletion
Tumor Suppressor Genes
Pancreatic Neoplasms
Mutation
Single Nucleotide Polymorphism
2014

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

Nowaczyk, M. J. M., Thompson, B. A., Zeesman, S., Moog, U., Sanchez-Lara, P. A., Magoulas, P. L., Falk, R. E., Hoover-Fong, J. E., Batista, D. A. S., Amudhavalli, S. M., White, S. M., Graham, G. E. & Rauen, K. A. Feb 2014 In : Clinical Genetics. 85, 2, p. 138-146 9 p.

Research output: Research - peer-reviewArticle

Congenital Heart Defects
Phenotype
Mutation
Cardiofaciocutaneous syndrome
Skin Abnormalities
Odontogenic Cysts
Mucoepidermoid Carcinoma
Bone Cysts
Surgical Pathology
Jaw
Mucoepidermoid Carcinoma
Papillomavirus Infections
Salivary Glands
Fluorescence In Situ Hybridization
In Situ Hybridization

Mutations in Alström protein impair terminal differentiation of cardiomyocytes

Shenje, L. T. , Andersen, P. , Halushka, M. K. , Lui, C. , Fernandez, L. , Collin, G. B. , Amat-Alarcon, N. , Meschino, W. , Cutz, E. , Chang, K. , Yonescu, R. , Batista, D. A. S. , Chen, Y. , Chelko, S. , Crosson, J. E. , Scheel, J. , Vricella, L. , Craig, B. D. , Marosy, B. A. , Mohr, D. W. & 8 others Hetrick, K. N., Romm, J. M., Scott, A. F., Valle, D., Naggert, J. K., Kwon, C., Doheny, K. F. & Judge, D. P. Mar 4 2014 In : Nature Communications. 5, 3416

Research output: Research - peer-reviewArticle

mutations
proteins
cycles
Cardiac Myocytes
Mutation

Sacrococcygeal teratomas: Clinico-pathological characteristics and isochromosome 12p status

Gurda, G. T., Vandenbussche, C. J., Yonescu, R., Gonzalez-Roibon, N., Ellis, C. L., Batista, D. A. S. & Netto, G. J. 2014 In : Modern Pathology. 27, 4, p. 562-568 7 p.

Research output: Research - peer-reviewArticle

Isochromosomes
Teratoma
Neoplasms
Chromosomes
Recurrence

Severe infantile epileptic encephalopathy due to mutations in PLCB1: Expansion of the genotypic and phenotypic disease spectrum

Ngoh, A., Mctague, A., Wentzensen, I. M., Meyer, E., Applegate, C., Kossoff, E. H., Batista, D. A., Wang, T. & Kurian, M. A. Nov 1 2014 In : Developmental Medicine and Child Neurology. 56, 11, p. 1124-1128 5 p.

Research output: Research - peer-reviewArticle

Brain Diseases
Mutation
Seizures
Molecular Biology
Infantile Spasms

The impact of chromosomal microarray on clinical management: A retrospective analysis

Henderson, L. B., Applegate, C. D., Wohler, E., Sheridan, M. B., Hoover-Fong, J. & Batista, D. A. S. Sep 11 2014 In : Genetics in Medicine. 16, 9, p. 657-664 8 p.

Research output: Research - peer-reviewArticle

Viverridae
Insurance Carriers
Electronic Health Records
Early Detection of Cancer
Cytogenetics
2013

6p25 microdeletion: White matter abnormalities in an adult patient

Vernon, H. J., Bytyci Telegrafi, A., Batista, D., Owegi, M. & Leigh, R. Jul 2013 In : American Journal of Medical Genetics, Part A. 161, 7, p. 1686-1689 4 p.

Research output: Research - peer-reviewArticle

Leukoencephalopathies
Chromosomes
White Matter
Unilateral Hearing Loss
Genetic Services

Cytopathologic features of mammary analogue secretory carcinoma

Bishop, J. A., Yonescu, R., Batista, D. A. S., Westra, W. H. & Ali, S. Z. May 2013 In : Cancer cytopathology. 121, 5, p. 228-233 6 p.

Research output: Research - peer-reviewArticle

Mammary Analogue Secretory Carcinoma
Fine Needle Biopsy
Salivary Gland Neoplasms
Acinar Cell Carcinoma
Mucoepidermoid Carcinoma

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features

Lee, R. W. Y., Bodurtha, J., Cohen, J., Fatemi, A. & Batista, D. 2013 In : Pediatric Neurology. 48, 4, p. 317-320 4 p.

Research output: Research - peer-reviewArticle

Language Development Disorders
Chondrogenesis
Intellectual Disability
Nervous System
Transcription Factors
Acinar Cell Carcinoma
Neoplasms
Mammary Analogue Secretory Carcinoma
Cytoplasmic Granules
Parotid Gland

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Sheridan, M., Bytyci Telegrafi, A., Stinnett, V., Umeh, C., Mari, Z., Dawson, T., Bodurtha, J. & Batista, D. Oct 2013 In : Clinical Genetics. 84, 4, p. 368-372 5 p.

Research output: Research - peer-reviewArticle

Silver-Russell Syndrome
Sarcoglycans
Chromosomes, Human, Pair 7
Movement Disorders
Mothers
Bone Marrow
Tissue Donors
Anemia
Neoplasms
Donor Selection
Proxy
Immunohistochemistry
Mammary Analogue Secretory Carcinoma
Salivary Gland Neoplasms
Adenocarcinoma
2012

Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited

Jerez, A., Gondek, L. P., Jankowska, A. M., Makishima, H., Przychodzen, B., Tiu, R. V., O'Keefe, C. L., Mohamedali, A. M., Batista, D., Sekeres, M. A., McDevitt, M. A., Mufti, G. J. & Maciejewski, J. P. Apr 20 2012 In : Journal of Clinical Oncology. 30, 12, p. 1343-1349 7 p.

Research output: Research - peer-reviewArticle

Neoplasms
Karyotyping
Chromosome Deletion
Myelodysplastic Syndromes
Acute Myeloid Leukemia
2011

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy

Raymond, G., Wohler, E., Dinsmore, C., Cox, J., Johnston, M., Batista, D. & Wang, T. Apr 2011 In : American Journal of Medical Genetics, Part A. 155, 4, p. 920-923 4 p.

Research output: Research - peer-reviewArticle

Glioma
Paraffin
Microsatellite Repeats
Formaldehyde
Single Nucleotide Polymorphism

Mosaic trisomy 13: Understanding origin using SNP array

Jinawath, N., Zambrano, R., Wohler, E., Palmquist, M. K., Hoover-Fong, J., Hamosh, A. & Batista, D. A. S. May 2011 In : Journal of Medical Genetics. 48, 5, p. 323-326 4 p.

Research output: Research - peer-reviewArticle

Single Nucleotide Polymorphism
Trisomy 13 syndrome
Mosaicism
Uniparental Disomy
Meiosis
Chromosomes, Human, Pair 9
Karyotype
Fathers
Clone Cells
Chromosomes, Human, Pair 16

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Li, F. , Shen, Y. , Köhler, U. , Sharkey, F. H. , Menon, D. , Coulleaux, L. , Malan, V. , Rio, M. , McMullan, D. J. , Cox, H. , Fagan, K. A. , Gaunt, L. , Metcalfe, K. , Heinrich, U. , Hislop, G. , Maye, U. , Sutcliffe, M. , Wu, B. L. , Thiel, B. D. , Mulchandani, S. & 4 others Conlin, L. K., Spinner, N. B., Murphy, K. M. & Batista, D. A. S. Mar 2010 In : European Journal of Medical Genetics. 53, 2, p. 93-99 7 p.

Research output: Research - peer-reviewArticle

Intellectual Disability
Phenotype
Steryl-Sulfatase
X Chromosome Inactivation
Comparative Genomic Hybridization
2009

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

Li, F., Lisi, E. C., Wohler, E. S., Hamosh, A. & Batista, D. A. S. Sep 2009 In : European Journal of Medical Genetics. 52, 5, p. 349-352 4 p.

Research output: Research - peer-reviewArticle

Fathers
Cognition
Chromosome 3q29 Deletion Syndrome
Subvalvular Aortic Stenosis
Pulmonary Valve Stenosis

A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: Diagnostic challenges in clinical laboratory practice

Jinawath, N., Norris-Kirby, A., Smith, B. D., Gocke, C. D., Batista, D. A., Griffin, C. A. & Murphy, K. M. Jul 2009 In : Journal of Molecular Diagnostics. 11, 4, p. 359-363 5 p.

Research output: Research - peer-reviewArticle

Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Polymerase Chain Reaction
Fluorescence In Situ Hybridization
Therapeutics
Cytogenetic Analysis

Pseudoaminopterin syndrome: Clinical report with new characteristics

Sobreira, N., Cernach, M., Batista, D., Brunoni, D. & Perez, A. Dec 2009 In : American Journal of Medical Genetics, Part A. 149, 12, p. 2843-2848 6 p.

Research output: Research - peer-reviewArticle

Aminopterin
Pseudoaminopterin syndrome
Hair
Diaphragmatic Hernia
Toes
2008

3q29 Interstitial microduplication: A new syndrome in a three-generation family

Lisi, E. C., Hamosh, A., Doheny, K. F., Squibb, E., Jackson, B., Galczynski, R., Thomas, G. H. & Batista, D. A. S. Mar 1 2008 In : American Journal of Medical Genetics, Part A. 146, 5, p. 601-609 9 p.

Research output: Research - peer-reviewArticle

Genomic Segmental Duplications
Microcephaly
Chromosomes, Human, Pair 3
Homologous Recombination
Intellectual Disability

Acute mixed lineage leukemia and a t(6;14)(q25;q32) in two adults

Georgy, M., Yonescu, R., Griffin, C. A. & Batista, D. A. S. Aug 2008 In : Cancer Genetics and Cytogenetics. 185, 1, p. 28-31 4 p.

Research output: Research - peer-reviewArticle

Biphenotypic Acute Leukemia
Leukemia
N(6)-(N-threonylcarbonyl)adenosine
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 6
2007

Acute bilineal leukemia: A rare disease with poor outcome

Weir, E. G., Ali Ansari-Lari, M., Batista, D. A. S., Griffin, C. A., Fuller, S., Smith, B. D. & Borowitz, M. J. Nov 2007 In : Leukemia. 21, 11, p. 2264-2270 7 p.

Research output: Research - peer-reviewArticle

Rare Diseases
Leukemia
Stem Cell Transplantation
Cytogenetics
Chromosome Aberrations

Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion

Saadeh, R., Lisi, E. C., Batista, D. A. S., McIntosh, I. & Hoover-Fong, J. E. Oct 2007 In : Pediatric Neurology. 37, 4, p. 299-302 4 p.

Research output: Research - peer-reviewArticle

Albinism
Angelman Syndrome
Prader-Willi Syndrome
Oculocutaneous albinism type 2
Oculocutaneous Albinism
2006

Multicolor fluorescence in situ hybridization (SKY) in mycosis fungoides and Sézary syndrome: Search for recurrent chromosome abnormalities

Batista, D. A. S., Vonderheid, E. C., Hawkins, A., Morsberger, L., Long, P., Murphy, K. H. & Griffin, C. A. Apr 2006 In : Genes Chromosomes and Cancer. 45, 4, p. 383-391 9 p.

Research output: Research - peer-reviewArticle

Sezary Syndrome
Mycosis Fungoides
Fluorescence In Situ Hybridization
Chromosome Aberrations
Cutaneous T-Cell Lymphoma
Karyotype
Cytogenetics
Neoplasms
Pleuropulmonary blastoma
Chromosomes
2005
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Philadelphia Chromosome
Chromosomes, Human, Pair 9
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Chromosomes, Human, Pair 22
2004

Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature

Tuck-Muller, C. M., Chen, H., Martínez, J. E., Shen, C. C., Li, S., Kusyk, C., Batista, D. A. S., Bhatnagar, Y. M., Dowling, E. & Wertelecki, W. 2004 In : Human Genetics. 96, 1, p. 119-129 11 p.

Research output: Research - peer-reviewArticle

Y Chromosome
Cytogenetics
Clinical Studies
Mosaicism
Sex-Determining Region Y Protein
1997

Segregation of a familial balanced (12;10) insertion resulting in dup(10)(q21.2q22.1) and Del(10)(q21.2q22.1) in First cousins

Doheny, K. F., Rasmussen, S. A., Rutberg, J., Semenza, G. L., Stamberg, J., Schwartz, M., Batista, D. A. S., Stetten, G. & Thomas, G. H. Mar 17 1997 In : American Journal of Medical Genetics. 69, 2, p. 188-193 6 p.

Research output: Research - peer-reviewArticle

Chromosomes, Human, Pair 10
Chromosome Painting
Heart Murmurs
Chromosomes, Human, Pair 12
Muscle Hypotonia
1995

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

Batista, D. A. S., Escallon, C., Blakemore, K. J. & Stetten, G. 1995 In : Prenatal Diagnosis. 15, 2, p. 123-127 5 p.

Research output: Research - peer-reviewArticle

Chromosomes, Human, Pair 20
Ring Chromosomes
Failure to Thrive
Fluorescence In Situ Hybridization
Karyotype

Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization

Chen, H., Tuck-Muller, C. M., Batista, D. A. S. & Wertelecki, W. 1995 In : American Journal of Medical Genetics. 56, 2, p. 219-223 5 p.

Research output: Research - peer-reviewArticle

Mosaicism
Chromosomes, Human, Pair 1
Fluorescence In Situ Hybridization
Chromosome 1 ring
Phenotype
1994

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

Batista, D. A. S., Pai, G. S. & Stetten, G. 1994 In : American Journal of Medical Genetics. 53, 3, p. 255-263 9 p.

Research output: Research - peer-reviewArticle

Chromosomes
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 7
Mentally Disabled Persons
1993

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Batista, D. A. S., Tuck-Muller, C. M., Martinez, J. E., Kearns, W. G., Pearson, P. L. & Stetten, G. Sep 1993 In : Human Genetics. 92, 2, p. 117-121 5 p.

Research output: Research - peer-reviewArticle

Fluorescence In Situ Hybridization
Cytogenetics
Chromosome Aberrations
Chromosomes

Duplication of the short arm of the X chromosome in mother and daugther

Tuck-Muller, C. M., Martinez, J. E., Batista, D. A. S., Kearns, W. G. & Wertelecki, W. May 1993 In : Human Genetics. 91, 4, p. 395-400 6 p.

Research output: Research - peer-reviewArticle

X Chromosome
Mothers
X Chromosome Inactivation
Telomere
Fluorescence In Situ Hybridization