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

Genetics in medicine, 2020-02, Vol.22 (2), p.336-344

2020

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

Genetics in medicine, 2021-06, Vol.23 (6), p.1101-1107

2021

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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

Breast cancer research and treatment, 2007-07, Vol.104 (1), p.13-19

2007

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

American journal of obstetrics and gynecology, 2015-08, Vol.213 (2), p.214.e1-214.e5

2015

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Statement on guidance for genetic counseling in advanced paternal age

Genetics in medicine, 2008-06, Vol.10 (6), p.457-460

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

Breast cancer research and treatment, 2007-07, Vol.104 (1), p.13-19

2007

Volltextzugriff (PDF)

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

Genetics in medicine, 2017-08, Vol.19 (8), p.845-850

2017

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Holoprosencephaly due to numeric chromosome abnormalities

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.146-148

2010

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

Genetics in medicine, 2020-03, Vol.22 (3), p.670-671

2020

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Genetics in Medicine Open, 2023, Vol.1 (1), p.100500, Article 100500

2023

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P216: Missing heritability for supravalvar aortic stenosis identified in long range enhancer for elastin

Genetics in Medicine Open, 2023, Vol.1 (1), p.100244, Article 100244

2023

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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

International journal of cancer, 2010-09, Vol.127 (5), p.1011

2010

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Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor

Journal of cutaneous pathology, 2011-12, Vol.38 (12), p.999-1003

2011

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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

International journal of cancer, 2010-09, Vol.127 (5), p.1011-1020

2010

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A cross-disorder dosage sensitivity map of the human genome

Cell, 2022-08, Vol.185 (16), p.3041-3055.e25

2022

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Reply

American journal of obstetrics and gynecology, 2015-10, Vol.213 (4), p.596

2015

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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

BMC medical genetics, 2006-01, Vol.7 (1), p.2-2, Article 2

2006

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

Genetics in medicine, 2015-08, Vol.17 (8), p.623-629

2015

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36. Classifying benign multigenic CNVs: Exploring available population databases

Cancer genetics, 2021-04, Vol.252-253, p.S12-S13

2021

Volltextzugriff (PDF)

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

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.262-265

2009

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78: Multi-gene NGS panel yields high diagnostic rate of skeletal dysplasias detected by fetal ultrasound

American journal of obstetrics and gynecology, 2018-01, Vol.218 (1), p.S57-S58

2018

Volltextzugriff (PDF)

Reply

American journal of obstetrics and gynecology, 2015, Vol.213 (4), p.596-596

2015

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

American journal of medical genetics. Part A, 2013-04, Vol.161 (4), p.835-840

2013

Volltextzugriff (PDF)

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

Genetics in medicine, 2020-02, Vol.22 (2), p.336-344

2020

Volltextzugriff (PDF)

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

European journal of medical genetics, 2019-01, Vol.62 (1), p.9-14

2019

Volltextzugriff (PDF)

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

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

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

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

Statement on guidance for genetic counseling in advanced paternal age

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

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

Holoprosencephaly due to numeric chromosome abnormalities

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

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

P216: Missing heritability for supravalvar aortic stenosis identified in long range enhancer for elastin

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

Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor

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

A cross-disorder dosage sensitivity map of the human genome

Reply

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

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

36. Classifying benign multigenic CNVs: Exploring available population databases

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

78: Multi-gene NGS panel yields high diagnostic rate of skeletal dysplasias detected by fetal ultrasound

Reply

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

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

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

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