Publications by authors named "Jeanne Meck"

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A cross-disorder dosage sensitivity map of the human genome.
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Jeanne Meck

Cell· August 2022

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Uniparental disomy in a population of 32,067 clinical exome trios.
Julie Scuffins, Jennifer Keller-Ramey, Lindsay Dyer, Ganka Douglas, Rebecca Torene, Jeanne Meck

Genet Med· June 2021

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Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Jeanne M Meck

Genet Med· March 2020

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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Jeanne M Meck

Genet Med· February 2020

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Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
John C Herriges, Sara Brown, Maria Longhurst, Jillian Ozmore, John B Moeschler, Jeanne Meck

Eur J Med Genet· January 2019

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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Erin R Riggs, Tristan Nelson, Andrew Merz, Todd Ackley, Brian Bunke, Jeanne Meck

Hum Mutat· November 2018

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Athena M Cherry, Yassmine M Akkari, Kimberly M Barr, Hutton M Kearney, Nancy C Rose, Jeanne M Meck

Genet Med· August 2017

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Reply: To PMID 25843063.
Jeanne M Meck, Athena M Cherry

Am J Obstet Gynecol· October 2015

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Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Jeanne Meck

Genet Med· August 2015

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Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.
Jeanne M Meck, Elizabeth Kramer Dugan, Ludmila Matyakhina, Ayala Aviram, Carolyn Trunca

Am J Obstet Gynecol· August 2015

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Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
Mohamed Khalifa, Jennifer Stein, Lance Grau, Valery Nelson, Jeanne Meck

Am J Med Genet A· April 2013

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A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
Kavita S Reddy, Swaroop Aradhya, Jeanne Meck, George Tiller, Sridevi Abboy

Genet Med· January 2013

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Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor.
Weifen Zeng, Jeanne Meck, Bruce D Cheson, Metin Ozdemirli

J Cutan Pathol· December 2011

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Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line.
Weidong Jiang, Xin Wei Wang, Tamar Unger, Marshonna Forgues, Jin Woo Kim, Jeanne M Meck

Int J Cancer· September 2010

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Holoprosencephaly due to numeric chromosome abnormalities.
Benjamin D Solomon, Kenneth N Rosenbaum, Jeanne M Meck, Maximilian Muenke

Am J Med Genet C Semin Med Genet· February 2010

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Deletion 6p as the sole chromosome abnormality in a patient with therapy-related myelodysplastic syndrome: case report and review of the literature.
Aurelia M Meloni-Ehrig, Elizabeth Alexander, Sathia V Nathan, Mohamed S Ahmed, Eric D Smith, Jeanne M Meck

Cancer Genet Cytogenet· February 2010

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A rare finding of deletion 5q in a child with juvenile myelomonocytic leukemia.
Jeanne M Meck, Jennifer A Otani-Rosa, Ronnie W Neuberg, Jeffrey A Welsh, Philip N Mowrey

Cancer Genet Cytogenet· December 2009

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Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation.
Gulsun Erdag, Jeanne M Meck, Aurelia Meloni-Ehrig, Ludmila Matyakhina, Theresa Donohue

Cancer Genet Cytogenet· April 2009

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Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
Thomas R Dennis, Gina N Raptoulis, Heather J Stalker, Debra Boles, Jeanne M Meck

Am J Med Genet A· February 2009

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Statement on guidance for genetic counseling in advanced paternal age.
Helga V Toriello, Jeanne M Meck,

Genet Med· June 2008

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Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].
Emre Zafer, Jeanne Meck, Liora Gerrad, Elon Pras, Moshe Frydman

Mol Vis· March 2008

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MDA-MB-435 cells are derived from M14 melanoma cells--a loss for breast cancer, but a boon for melanoma research.
James M Rae, Chad J Creighton, Jeanne M Meck, Bassem R Haddad, Michael D Johnson

Breast Cancer Res Treat· July 2007

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Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.
Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain

BMC Med Genet· January 2006

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Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities.
Said Baidas, T-J Chen, Valentin Kolev, Lee-Jun Wong, Joel Imholte, Jeanne Meck

Am J Med Genet A· February 2004

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Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants.
Chahira Kozma, Anne M Slavotinek, Jeanne M Meck

Am J Med Genet A· January 2004

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