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Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Frontiers in genetics, 2023-02, Vol.14, p.1082100

2023

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Mutations in embryonic myosin heavy chain ( MYH3 ) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Nature genetics, 2006-05, Vol.38 (5), p.561-565

2006

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A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2155-2162

2006

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A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

American journal of human genetics, 2006-11, Vol.79 (5), p.935-941

2006

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Sheldon-Hall syndrome

Orphanet journal of rare diseases, 2009-03, Vol.4 (1), p.11-11, Article 11

2009

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A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia

Haematologica (Roma), 2018-02, Vol.103 (2), p.e87

2018

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Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis

Annals of Laboratory Medicine, 2018, 38(6), , pp.619-622

2018

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Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease

American journal of clinical pathology, 2021-10, Vol.156 (4), p.715-716

2021

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Conventional Cytogenetic Analysis of Constitutional Abnormalities: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Archives of pathology & laboratory medicine (1976), 2024-06

2024

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Clinical features of trisomy 12 mosaicism—Report and review

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1681-1686

2017

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Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

British journal of haematology, 2022-09, Vol.198 (6), p.e78-e81

2022

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Developmental Delay and Colon Polyposis

Gastroenterology (New York, N.Y. 1943), 2017-10, Vol.153 (4), p.908-909

2017

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Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

Genes chromosomes & cancer, 2019-08, Vol.58 (8), p.551-557

2019

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Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma

Cancer genetics, 2021-11, Vol.258-259, p.23-26

2021

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Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2901-2906

2018

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Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

American journal of medical genetics. Part A, 2006-11, Vol.140A (22), p.2387-2393

2006

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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Journal of child neurology, 2019-02, Vol.34 (2), p.86-93

2019

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Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey

Cytogenetic and genome research, 2018-01, Vol.156 (4), p.191-196

2018

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Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Archives of pathology & laboratory medicine (1976), 2021-02, Vol.145 (2), p.176-190

2021

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Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation

Cancer genetics, 2019-10, Vol.238, p.31-36

2019

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Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Molecular syndromology, 2020-07, Vol.11 (3), p.125-129

2020

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Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities

Leukemia & lymphoma, 2015-02, Vol.56 (2), p.426-433

2015

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Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

American journal of human genetics, 2003-07, Vol.73 (1), p.74-85

2003

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Conventional Cytogenetic Analysis of Hematologic Neoplasms

Archives of pathology & laboratory medicine (1976), 2021-02, Vol.145 (2), p.176-190

2021

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Immunophenotypic and cytogenetic evolution patterns of the neoplastic plasma cells in multiple myeloma relapsed after stem cell transplant

Journal of hematopathology, 2018-09, Vol.11 (3), p.75-80

2018

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Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

Mutations in embryonic myosin heavy chain ( MYH3 ) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Sheldon-Hall syndrome

A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia

Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis

Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease

Conventional Cytogenetic Analysis of Constitutional Abnormalities: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Clinical features of trisomy 12 mosaicism—Report and review

Genome‐wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia

Developmental Delay and Colon Polyposis

Pediatric acute myeloid leukemia with t(7;21)(p22;q22)

Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey

Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities

Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype

Conventional Cytogenetic Analysis of Hematologic Neoplasms

Immunophenotypic and cytogenetic evolution patterns of the neoplastic plasma cells in multiple myeloma relapsed after stem cell transplant

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