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ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients

Modern pathology, 2012-11, Vol.25 (11), p.1516-1525

2012

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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

American journal of human genetics, 2012-01, Vol.90 (1), p.133-141

2012

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The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray

Journal of the American Academy of Dermatology, 2015-04, Vol.72 (4), p.617-627

2015

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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

American journal of human genetics, 2015-07, Vol.97 (1), p.170-176

2015

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Uterine cellular leiomyomata with chromosome 1p deletions represent a distinct entity

American journal of obstetrics and gynecology, 2014-06, Vol.210 (6), p.572.e1-572.e7

2014

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Computational pharmacogenotype extraction from clinical next-generation sequencing

Frontiers in oncology, 2023-07, Vol.13, p.1199741-1199741

2023

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A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

Journal of the American Heart Association, 2023-09, Vol.12 (18), p.e029340-e029340

2023

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The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms

Leukemia, 2022-07, Vol.36 (7), p.1703-1719

2022

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.57-63

2014

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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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Non-fusion mutations in endometrial stromal sarcomas: what is the potential impact on tumourigenesis through cell cycle dysregulation?

Journal of clinical pathology, 2020-12, Vol.73 (12), p.830

2020

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Genotype-Phenotype Correlation of Distal 2q37 Deletions

Cytogenetic and genome research, 2023-02, Vol.162 (5), p.237-243

2023

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TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients

The American journal of surgical pathology, 2012-05, Vol.36 (5), p.663-670

2012

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Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases

Modern pathology, 2014-01, Vol.27 (1), p.113-127

2014

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Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis

Cytogenetic and genome research, 2021-04, Vol.160 (11-12), p.671-679

2021

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ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients

Modern pathology, 2012-11, Vol.25 (11), p.1516

2012

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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

American journal of human genetics, 2023-09, Vol.110 (9), p.1454-1469

2023

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A cytogenetic analysis of 2 cases of phosphaturic mesenchymal tumor of mixed connective tissue type

Human pathology, 2012-08, Vol.43 (8), p.1334-1338

2012

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High-grade Endometrial Stromal Sarcomas: A Clinicopathologic Study of a Group of Tumors With Heterogenous Morphologic and Genetic Features

The American journal of surgical pathology, 2014-09, Vol.38 (9), p.1161-1172

2014

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Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis

Genes chromosomes & cancer, 2009-10, Vol.48 (10), p.865-885

2009

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Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project

The Journal of molecular diagnostics : JMD, 2023-09, Vol.25 (9), p.655-664

2023

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Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors: Discovery of Genetic Complexity by Fluorescence in Situ Hybridization

The Journal of molecular diagnostics : JMD, 2016-07, Vol.18 (4), p.516-526

2016

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Genetic heterogeneity among uterine leiomyomata: insights into malignant progression

Human molecular genetics, 2007-04, Vol.16 (R1), p.R7-R13

2007

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Molecular and pathologic characterization of AML with double Inv(3)(q21q26.2)

Cancer genetics, 2019-01, Vol.230, p.28-36

2019

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ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

Uterine cellular leiomyomata with chromosome 1p deletions represent a distinct entity

Computational pharmacogenotype extraction from clinical next-generation sequencing

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

A cross-disorder dosage sensitivity map of the human genome

Non-fusion mutations in endometrial stromal sarcomas: what is the potential impact on tumourigenesis through cell cycle dysregulation?

Genotype-Phenotype Correlation of Distal 2q37 Deletions

TFE3 rearrangements in adult renal cell carcinoma: clinical and pathologic features with outcome in a large series of consecutively treated patients

Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases

Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis

ALK alterations in adult renal cell carcinoma: frequency, clinicopathologic features and outcome in a large series of consecutively treated patients

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

A cytogenetic analysis of 2 cases of phosphaturic mesenchymal tumor of mixed connective tissue type

High-grade Endometrial Stromal Sarcomas: A Clinicopathologic Study of a Group of Tumors With Heterogenous Morphologic and Genetic Features

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Identifying the molecular signature of the interstitial deletion 7q subgroup of uterine leiomyomata using a paired analysis

Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project

Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors: Discovery of Genetic Complexity by Fluorescence in Situ Hybridization

Genetic heterogeneity among uterine leiomyomata: insights into malignant progression

Molecular and pathologic characterization of AML with double Inv(3)(q21q26.2)

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