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Complex genomic rearrangements of the Y chromosome in a premature infant

Molecular cytogenetics, 2024-08, Vol.17 (1), p.19-8

2024

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Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2088-n/a

2023

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Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Genetics in medicine, 2013-01, Vol.15 (1), p.70-78

2013

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Differential interaction of 3-hydroxy-3-methylglutaryl-coa reductase inhibitors with ABCB1, ABCC2, and OATP1B1

Drug metabolism and disposition, 2005-04, Vol.33 (4), p.537

2005

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Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Molecular cytogenetics, 2022-03, Vol.15 (1), p.10-10, Article 10

2022

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Human genetics, 2009-10, Vol.126 (4), p.589-602

2009

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Aneuploid embryo transfer: clinical policies and provider opinions at United States fertility clinics

Fertility and sterility, 2020-07, Vol.114 (1), p.110-117

2020

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Pharmacokinetics, metabolism, and excretion of torcetrapib, a cholesteryl ester transfer protein inhibitor, in humans

Drug metabolism and disposition, 2008-11, Vol.36 (11), p.2185

2008

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14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63604-n/a

2024

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Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome

The Journal of pediatrics, 2020-01, Vol.216, p.227-231

2020

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Neonatal Lung Disease Associated with TBX4 Mutations

The Journal of pediatrics, 2019-03, Vol.206, p.286-292.e1

2019

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Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.294-301

2020

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Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

The Journal of molecular diagnostics : JMD, 2024-07

2024

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Assessment of Minimal Residual Disease in Ewing Sarcoma

Sarcoma, 2012, Vol.2012, p.780129-8

2012

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Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Journal of autism and developmental disorders, 2022-11, Vol.52 (11), p.4828-4842

2022

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Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

American journal of medical genetics. Part A, 2024-07, p.e63818

2024

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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2016-12, Vol.371 (1710)

2016

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Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.526-539

2023

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Summary of 262 Samples from 46 Patients Received for Preimplantation Genetic Screening by Array CGH: Hints at Early Stage Embryo Development

Cancer genetics, 2016-06, Vol.209 (6), p.300-300

Smolarek, Teresa A

2016

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Undifferentiated myxoid lipoblastoma with PLAG1–HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)—diagnostic importance of cytogenetic and molecular testing and literature review

Cancer genetics, 2016-01, Vol.209 (1), p.21-29

2016

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The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)

Journal of clinical immunology, 2019-11, Vol.39 (8), p.857-859

2019

Volltextzugriff (PDF)

Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia

Cancer genetics, 2020-05, Vol.243, p.52-72

2020

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Nonclinical Evaluation of PF-06438179: A Potential Biosimilar to Remicade® (Infliximab)

Advances in therapy, 2016-11, Vol.33 (11), p.1964-1982

2016

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Comparative Nonclinical Assessments of the Proposed Biosimilar PF-05280014 and Trastuzumab (Herceptin®)

BioDrugs : clinical immunotherapeutics, biopharmaceuticals, and gene therapy, 2014-10, Vol.28 (5), p.451-459

2014

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Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.647-653

2017

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Complex genomic rearrangements of the Y chromosome in a premature infant

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Differential interaction of 3-hydroxy-3-methylglutaryl-coa reductase inhibitors with ABCB1, ABCC2, and OATP1B1

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Aneuploid embryo transfer: clinical policies and provider opinions at United States fertility clinics

Pharmacokinetics, metabolism, and excretion of torcetrapib, a cholesteryl ester transfer protein inhibitor, in humans

14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review

Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome

Neonatal Lung Disease Associated with TBX4 Mutations

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing

Assessment of Minimal Residual Disease in Ewing Sarcoma

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Long‐read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

Summary of 262 Samples from 46 Patients Received for Preimplantation Genetic Screening by Array CGH: Hints at Early Stage Embryo Development

Undifferentiated myxoid lipoblastoma with PLAG1–HAS2 fusion in an infant; morphologically mimicking primitive myxoid mesenchymal tumor of infancy (PMMTI)—diagnostic importance of cytogenetic and molecular testing and literature review

The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)

Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia

Nonclinical Evaluation of PF-06438179: A Potential Biosimilar to Remicade® (Infliximab)

Comparative Nonclinical Assessments of the Proposed Biosimilar PF-05280014 and Trastuzumab (Herceptin®)

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

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