J. Meck

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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Statement on guidance for genetic counseling in advanced paternal age

H. Toriello, J. Meck, 2008, Genetics in Medicine.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor

B. Cheson, M. Ozdemirli, J. Meck, 2011, Journal of cutaneous pathology.

Benefits and pitfalls of prenatal screening in a twin pregnancy

H. Landy, J. Meck, A. Wray, 2005, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

L. Shaffer, J. Lupski, P. Gunaratne, 1996, Human Genetics.

A rare finding of deletion 5q in a child with juvenile myelomonocytic leukemia.

R. Neuberg, A. Meloni-Ehrig, J. Meck, 2009, Cancer genetics and cytogenetics.

PRENATAL DIAGNOSIS OF AN INFANT WITH MOSAIC TRISOMY 16 OF PATERNAL ORIGIN

D. Ledbetter, S. Christian, D. Sherer, 1996, Prenatal diagnosis.

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

A. Cherry, D. Pineda-Alvarez, S. Aradhya, 2015, American journal of obstetrics and gynecology.

Constitutional trisomy 8 mosaicism due to meiosis II non‐disjunction in a phenotypically normal woman with hematologic abnormalities

L. Wong, J. Meck, S. Baidas, 2004, American journal of medical genetics. Part A.

Uniparental disomy in a population of 32,067 clinical exome trios

K. Retterer, J. Juusola, G. Douglas, 2021, Genetics in Medicine.

Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications.

B. Haddad, C. Kozma, J. Meck, 2000, American journal of medical genetics.

Keratinocytes immortalized by human papillomavirus-18 exhibit alterations dependent upon host genetic background and complexity of viral genes transfected.

R. Schlegel, J. Meck, X. Pei, 1994, Pathobiology : journal of immunopathology, molecular and cellular biology.

Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19

R. Schiffmann, D. Krasnewich, R. Zori, 2009, American journal of medical genetics. Part A.

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

MDA-MB-435 cells are derived from M14 Melanoma cells––a loss for breast cancer, but a boon for melanoma research

Chad J. Creighton, C. Creighton, Michael D. Johnson, 2007, Breast Cancer Research and Treatment.

Establishment and cell cycle kinetics of a human squamous cell carcinoma in nude mice and in vitro.

J. McCullough, A. Yunis, R. Meck, 1981, Cancer research.

Intrauterine Growth Retardation Associated with Precocious Puberty and Sertoli Cell Hyperplasia

M. Merino, C. Stratakis, M. Lodish, 2010, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

S. Bale, D. Pineda-Alvarez, S. Aradhya, 2014, Genetics in Medicine.

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Jack M. Fu, Joseph T. Glessner, 2021, Cell.

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

J. Toretsky, B. Haddad, B. Brooks, 2006, BMC Medical Genetics.

Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).

C. Stratakis, R. Gafni, A. Lafferty, 2000, The Journal of clinical endocrinology and metabolism.

Identification of de novo chromosomal markers and derivatives by spectral karyotyping

E. Schröck, M. Ferguson-Smith, T. Ried, 1998, Human Genetics.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin R Riggs, Christa L Martin, E. Thorland, 2018, Human mutation.

Detection of chromosomal aberrations by a whole-genome microsatellite screen.

L. Biesecker, Y. Ning, R. Pauli, 2000, American journal of human genetics.

Holoprosencephaly due to numeric chromosome abnormalities

M. Muenke, B. Solomon, K. Rosenbaum, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

S. Aradhya, J. Duby, J. Meck, 2013, American journal of medical genetics. Part A.

CD5‐Negative, CD10‐Negative small B‐cell leukemia: Variant of chronic lymphocytic leukemia or a distinct entity?

A. Bagg, B. Kallakury, J. Meck, 2002, American journal of hematology.

Non-invasive Prenatal Screening for Fetal Aneuploidy: Comparison with Cytogenetic Results

A. Cherry, G. Putcha, J. Meck, 2015, Current Genetic Medicine Reports.

Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.

S. South, Erica F Andersen, J. Moeschler, 2019, European journal of medical genetics.

De novo duplication of 17p [dup(17)(p12----p11.2)]: report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects.

C. Kozma, K. J. Loomis, J. Meck, 1991, American journal of medical genetics.

Familial 10p trisomy resulting from a maternal pericentric inversion.

C. Kozma, J. Meck, 1994, American journal of medical genetics.

Duplication of thePMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

L. Shaffer, J. Lupski, P. Gunaratne, 2005, Human Genetics.

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA.

C. Kozma, J. Meck, J. Blancato, 1998, American journal of medical genetics.

Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.

S. Chong, C. Kozma, J. Meck, 1999, American journal of medical genetics.

Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye.

E. Traboulsi, C. Kozma, J. Meck, 1990, Ophthalmic paediatrics and genetics.

A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion

M. Turner, C. Stratakis, J. Toro, 2001, Journal of medical genetics.

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

S. Aradhya, K. Reddy, J. Meck, 2012, Genetics in Medicine.

Cooperation of tumor‐derived HBx mutants and p53‐249ser mutant in regulating cell proliferation, anchorage‐independent growth and aneuploidy in a telomerase‐immortalized normal human hepatocyte‐derived cell line

X. Wang, E. Bowman, T. Unger, 2009, International journal of cancer.

Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders

J. Rapoport, S. Kumra, L. Jacobsen, 1998 .

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.

Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation.

R. Srinivasan, R. Childs, A. Meloni-Ehrig, 2009, Cancer genetics and cytogenetics.

PRENATAL DETECTION OF DE NOVO INVERSION OF CHROMOSOME (2) (p13q11.2) AND POSTNATAL FOLLOW‐UP

C. Kozma, J. Meck, CHAHIRA KOZMA, 1996, Prenatal diagnosis.

Prenatal diagnosis of tetrasomy 12p by in situ hybridization: Varying levels of mosaicism in different fetal tissues

J. George, J. Meck, M. Hunt, 1992, Prenatal diagnosis.

Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

A. Slavotinek, C. Kozma, J. Meck, 2004, American journal of medical genetics. Part A.

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

S. Bale, J. Hahn, D. Pineda-Alvarez, 2011, Molecular Syndromology.

Short communication Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation

R. Srinivasan, R. Childs, A. Meloni-Ehrig, 2009 .

Adenomyosis: evidence for genetic cause.

J. Simon, J. Meck, L. Arnold, 1995, American journal of medical genetics.

Risk of abnormal triple screen for Down syndrome is significantly higher in patients with female fetuses

J. Pezzullo, C. Spong, A. Ghidini, 1999, Prenatal diagnosis.

Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow‐up

J. King, C. Kozma, J. Meck, 1994, Prenatal diagnosis.

Cytogenetic abnormalities in attention-deficit/hyperactivity disorder.

J. Rapoport, F. Castellanos, W. Sharp, 2002, Journal of the American Academy of Child and Adolescent Psychiatry.

148: Increased nuchal translucency and normal karyotype: value of additional testing

V. Jobanputra, S. Bale, V. Aggarwal, 2014 .

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

The Genetics of the H-Y Antigen System and its Role in Sex Determination

J. Meck, 2015, Perspectives in biology and medicine.

Cotransfection of HPV-18 and v-fos DNA induces tumorigenicity of primary human keratinocytes.

R. Schlegel, D. Greenhalgh, J. Meck, 1993, Virology.

Serological detection of H-Y antigen in humans with a cellular radioimmunobinding assay and monoclonal antibody.

E. Goldberg, J. Meck, 1984, Journal of immunological methods.

Patient decisions regarding prenatal aneuploid fluorescence in situ hybridization results

H. Landy, J. Meck, A. Wray, 2007, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

Deletion 6p as the sole chromosome abnormality in a patient with therapy-related myelodysplastic syndrome: case report and review of the literature.

A. Meloni-Ehrig, J. Meck, P. Mowrey, 2010, Cancer genetics and cytogenetics.