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Author Details

Fady M Mikhail
University of Alabama at Birmingham
2002
71
21
Jake Y. Chen (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37548271Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.Genes Chromosomes Cancer2024
37548271Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.Genes Chromosomes Cancer2024
37860969DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.Genet Med2024
37860969DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.Genet Med2024
37493540Utility of end of induction bone marrow biopsy and survival outcomes in acute promyelocytic leukemia treated with fixed-dose induction regimen.Leuk Lymphoma2023
37493540Utility of end of induction bone marrow biopsy and survival outcomes in acute promyelocytic leukemia treated with fixed-dose induction regimen.Leuk Lymphoma2023
37491870Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.Clin Genet2023
37491870Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.Clin Genet2023
33625084Therapy-related Myeloid Neoplasms in Children: A Single-institute Study.J Pediatr Hematol Oncol2022
35852875An in vivo model of glioblastoma radiation resistance identifies long noncoding RNAs and targetable kinases.JCI Insight2022
33625084Therapy-related Myeloid Neoplasms in Children: A Single-institute Study.J Pediatr Hematol Oncol2022
35852875An in vivo model of glioblastoma radiation resistance identifies long noncoding RNAs and targetable kinases.JCI Insight2022
34131312Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34131312Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
31629725Outcomes of high-risk acute promyelocytic leukemia patients treated with arsenic trioxide (ATO)/all trans retinoic acid (ATRA) based induction and consolidation without maintenance phase: A case Series.Hematol Oncol Stem Cell Ther2020
31600545Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.J Allergy Clin Immunol2020
32302940Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.Cancer Genet2020
31629725Outcomes of high-risk acute promyelocytic leukemia patients treated with arsenic trioxide (ATO)/all trans retinoic acid (ATRA) based induction and consolidation without maintenance phase: A case Series.Hematol Oncol Stem Cell Ther2020
32040594Fragile Bones Secondary to SMURF1 Gene Duplication.Calcif Tissue Int2020
32040594Fragile Bones Secondary to SMURF1 Gene Duplication.Calcif Tissue Int2020
32302940Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.Cancer Genet2020
31600545Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.J Allergy Clin Immunol2020
31138931Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).Genet Med2019
31929922Central Nervous System Double Relapse of Acute Promyelocytic Leukemia and Acute Myelomonocytic Leukemia.Case Rep Hematol2019
31138931Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).Genet Med2019
30805228Relapse after Prolonged Remission in Philadelphia-Like Acute Lymphoblastic Leukemia.Case Rep Hematol2019
31250568Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).Mol Genet Genomic Med2019
31425927Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.Cancer Genet2019
31929922Central Nervous System Double Relapse of Acute Promyelocytic Leukemia and Acute Myelomonocytic Leukemia.Case Rep Hematol2019
31425927Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group.Cancer Genet2019
31250568Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).Mol Genet Genomic Med2019
30805228Relapse after Prolonged Remission in Philadelphia-Like Acute Lymphoblastic Leukemia.Case Rep Hematol2019
29435294Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying <i>SETBP1</i> mutation.Mol Clin Oncol2018
30598700Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.Mol Cytogenet2018
30216695A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.Am J Med Genet A2018
29390927Malignant Ewing-Like Neoplasm With an EWSR1-KLF15 Fusion: At the Crossroads of a Myoepithelial Carcinoma and a Ewing-Like Sarcoma. A Case Report With Treatment Options.Int J Surg Pathol2018
29435294Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying <i>SETBP1</i> mutation.Mol Clin Oncol2018
29636925A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.Clin Case Rep2018
30216695A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.Am J Med Genet A2018
30598700Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.Mol Cytogenet2018
29390927Malignant Ewing-Like Neoplasm With an EWSR1-KLF15 Fusion: At the Crossroads of a Myoepithelial Carcinoma and a Ewing-Like Sarcoma. A Case Report With Treatment Options.Int J Surg Pathol2018
29636925A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.Clin Case Rep2018
27632688Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Genet Med2017
28384400Overview of Genetic Diagnosis in Cancer.Curr Protoc Hum Genet2017
28588835Concomitant imatinib and ibrutinib in a patient with chronic myelogenous leukemia and chronic lymphocytic leukemia.Clin Case Rep2017
29064023Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia.Curr Hematol Malig Rep2017
28011678Enhanced targeting of CML stem and progenitor cells by inhibition of porcupine acyltransferase in combination with TKI.Blood2017
27632688Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.Genet Med2017
28276158An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report.Diagn Cytopathol2017
28384400Overview of Genetic Diagnosis in Cancer.Curr Protoc Hum Genet2017
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Collaborators

Edward J Lose
The University of Alabama at Birmingham School of Medicine
Co-authored papers 5
Anna C E Hurst
Co-authored papers 4
Stephen P Hunger
Children's Hospital of Philadelphia
Co-authored papers 3
Robin Andersson
University of Copenhagen
Co-authored papers 2
Natasha L Rudy
Co-authored papers 2
David N Cooper
Institute of Medical Genetics, Cardiff University
Co-authored papers 2
Steven A McCarroll
Co-authored papers 2
Gordana Raca
Children's Hospital Los Angeles
Co-authored papers 2
Mary Shago
The Hospital for Sick Children, University of Toronto
Co-authored papers 2
Yassmine Akkari
Association for Molecular Pathology
Co-authored papers 2
Meenakshi Devidas
St Jude Children's Research Hospital
Co-authored papers 2
Jan Komorowski
Co-authored papers 2
Charles G Mullighan
St Jude Children's Research Hospital
Co-authored papers 2
Beth A Pitel
Mayo Clinic
Co-authored papers 1
Emily G Spencer
Scripps Research Translational Institute
Co-authored papers 1
Christian T Stackhouse
Co-authored papers 1
Abdel G Elkahloun
National Human Genome Research Institute
Co-authored papers 1
Zongliang Yue
University of Alabama at Birmingham, USA Informatics Institute
Co-authored papers 1
Julie M Gastier-Foster
Baylor College of Medicine
Co-authored papers 1
William E Grizzle
University of Alabama at Birmingham
Co-authored papers 1
Howard M Saal
Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Jaclyn A Biegel
Co-authored papers 1
Jake Y Chen
Co-authored papers 1
Joshua C Anderson
University of Alabama at Birmingham
Co-authored papers 1
Malcolm A Smith
National Cancer Institute
Co-authored papers 1
Rashmi Kanagal-Shamanna
The University of Texas MD Anderson Cancer Center
Co-authored papers 1
Namasivayam Ambalavanan
University of Alabama at Birmingham
Co-authored papers 1
Matthew J Huentelman
The Translational Genomics Research Institute (TGen)
Co-authored papers 1
Christopher Ryan Miller
University of Illinois at Urbana-Champaign
Co-authored papers 1
Thanh Nguyen
University of Alabama at Birmingham
Co-authored papers 1
Release 1.2