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American Journal of Medical Genetics. Part A
|
October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
Fady M Mikhail, Maria Descartes, Arkadiusz Piotrowski, et al.
Acta Neuropathologica
|
November 16, 2013
Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis
Stephanie N Brosius, Amy N Turk, Stephanie J Byer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Yunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
The Journal of Allergy and Clinical Immunology
|
October 11, 2019
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome
Joshua D Bernstock, Arthur H Totten, Abdel G Elkahloun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 30, 2019
Technical 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)
Fady M Mikhail, Jaclyn A Biegel, Linda D Cooley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Dana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.
Frontiers in Oncology
|
March 16, 2026
Case Report: <i>KMT2A</i> amplification in two adult patients with B-cell acute lymphoblastic leukemia
Min Gao, Yunjia Chen, Kimo Bachiashvili, et al.
Blood
|
January 27, 2026
Distinct trajectory of measurable residual disease in t(11;14) myeloma treated with quadruplet therapy
Susan Bal, Gayathri Ravi, Binod Dhakal, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 74) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
Fady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system
Fady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2007
A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
Fady M Mikhail, Maria Descartes, Arkadiusz Piotrowski, et al.
Acta Neuropathologica
|
November 16, 2013
Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis
Stephanie N Brosius, Amy N Turk, Stephanie J Byer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism
Yunjia Chen, Ender Karaca, Nathaniel H Robin, et al.
The Journal of Allergy and Clinical Immunology
|
October 11, 2019
Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome
Joshua D Bernstock, Arthur H Totten, Abdel G Elkahloun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 30, 2019
Technical 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)
Fady M Mikhail, Jaclyn A Biegel, Linda D Cooley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Dana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.
Frontiers in Oncology
|
March 16, 2026
Case Report: <i>KMT2A</i> amplification in two adult patients with B-cell acute lymphoblastic leukemia
Min Gao, Yunjia Chen, Kimo Bachiashvili, et al.
Blood
|
January 27, 2026
Distinct trajectory of measurable residual disease in t(11;14) myeloma treated with quadruplet therapy
Susan Bal, Gayathri Ravi, Binod Dhakal, et al.
Page
of 8