J. Tepperberg

发表

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

D. Ledbetter, P. Papenhausen, J. B. Ravnan, 2005, Journal of Medical Genetics.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?

J. Aisenberg, J. Tepperberg, J. McCarrier, 2004, American journal of medical genetics. Part A.

A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

A. Aylsworth, M. McDonald, J. Tepperberg, 2013, American journal of medical genetics. Part A.

Burkitt Lymphoma Arising in Organ Transplant Recipients: A Clinicopathologic Study of Five Cases

P. Papenhausen, D. Rizzieri, Joseph O. Moore, 2003, The American journal of surgical pathology.

Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?

K. Hirschhorn, L. Ala‐Kokko, P. Warburton, 2012, Genetics in Medicine.

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.

S. Schwartz, P. Papenhausen, Zhenxi Zhang, 2019, Cancer genetics.

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

H. Kearney, K. Tsuchiya, S. Olson, 2011, Genetics in Medicine.

Section E 9 of the American College of Medical Genetics technical standards and guidelines : Fluorescence in situ hybridization

H. Kearney, K. Tsuchiya, S. Olson, 2011 .

UPD detection using homozygosity profiling with a SNP genotyping microarray

S. Schwartz, P. Papenhausen, J. Tepperberg, 2011, American journal of medical genetics. Part A.

Congenital sensory neuropathy with skeletal dysplasia.

J. Pearson, J. Tepperberg, F. Axelrod, 1983, The Journal of pediatrics.

Fully automated FISH examination of amniotic fluid cells

A. Antsaklis, P. Tsipouras, J. Tepperberg, 2007, Prenatal diagnosis.

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

S. Schwartz, A. Hamosh, P. Papenhausen, 2013, American journal of medical genetics. Part A.

Oncogene amplification in transforming myelodysplasia.

P. Papenhausen, J. Tepperberg, S. Griffin, 2005, Experimental and molecular pathology.

Ovotesticular disorder of sexual development (true hermaphroditism).

J. Tepperberg, L. Palmer, L. Mehta, 2009, Urology.

X chromosome inactivation and micronuclei in normal and Turner individuals

J. Tucker, J. Nath, M. Davenport, 1997, Human Genetics.

Molecular characterization and sensitivity of STI-571 (imatinib mesylate, Gleevec)-resistant, Bcr-Abl-positive, human acute leukemia cells to SRC kinase inhibitor PD180970 and 17-allylamino-17-demethoxygeldanamycin.

R. Jove, K. Bhalla, Meijuan Huang, 2002, Cancer research.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

S. Schwartz, P. Papenhausen, A. Carroll, 2011, Human Genetics.

Status of the anaplastic lymphoma kinase (ALK) gene in inflammatory breast carcinoma

W. Woodward, V. Valero, S. Krishnamurthy, 2013, SpringerPlus.

College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis

K. Tsuchiya, A. Brothman, Jonathan P. Park, 2011, Genetics in Medicine.

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

S. Schwartz, L. Shaffer, Ankita Patel, 2009, Genetics in Medicine.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

J. Weisfeld-Adams, J. Tepperberg, L. Mehta, 2011, American journal of medical genetics. Part A.

Colchicine effects on meiosis in the male mouse: II. Inhibition of synapsis and induction of nondisjunction

M. Moses, J. Nath, J. Tepperberg, 1999 .

Colchicine effects on meiosis in the male mouse

M. Moses, J. Nath, J. Tepperberg, 1997, Chromosoma.

Camptodactyly and the 22q11.2 deletion syndrome

A. Aylsworth, J. Walsh, J. Tepperberg, 2017, American journal of medical genetics. Part A.

Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2‐year multi‐center retrospective study and review of the literature

P. N. Rao, M. Schoonmaker, H. Wyandt, 2001, Prenatal diagnosis.

Colchicine effects on meiosis in the male mouse. I. Meiotic prophase: synaptic arrest, univalents, loss of damaged spermatocytes and a possible checkpoint at pachytene.

M. Moses, J. Nath, J. Tepperberg, 1999, Chromosoma.

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

S. South, A. Cherry, H. Kearney, 2017, Genetics in Medicine.

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

P. Warburton, Dan Hasson, P. Papenhausen, 2011, Chromosoma.

E 9 of the American College of Medical Genetics technical standards and guidelines : Fluorescence in situ hybridization

H. Kearney, K. Tsuchiya, S. Olson, 2011 .

Automated Microscopy of Amniotic Fluid Cells: Detection of FISH Signals Using the FastFISH® Imaging System

Mark I. Evans, M. Evans, P. Tsipouras, 2006, Fetal Diagnosis and Therapy.

Group A streptococcal meningitis complicating varicella.

L. Lutwick, J. Tepperberg, M. Kahn, 1991, The Pediatric infectious disease journal.

Ambulatory cassette EEG in absence epilepsy.

W. Hauser, J. Tepperberg, M. Keilson, 1987, Pediatric neurology.

Clinical Comparison of Overlapping Deletions of 19p13.3

S. Schwartz, P. Papenhausen, S. Sacharow, 2013, American journal of medical genetics. Part A.

Cortical blindness following meningitis due to hemophilus influenzae type B.

J. Tepperberg, D. Nussbaum, F. Feldman, 1977, The Journal of pediatrics.

Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features.

J. Tepperberg, R. Hutcheon, Nibal Zaghloul, 2002, Pediatrics in review.

UPD detection using homozygosity profiling with a SNP genotyping microarray

S. Schwartz, P. Papenhausen, J. Tepperberg, 2011, American journal of medical genetics. Part A.