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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2211-2233

2021

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A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1549-1558

2018

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40

2020

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Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3158-3164

2017

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Forward Genetics Approach Reveals Host Genotype-Dependent Importance of Accessory Chromosomes in the Fungal Wheat Pathogen Zymoseptoria tritici

mBio, 2017-11, Vol.8 (6)

2017

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Nine year old boy with chromosome 1q23.3-q25.1 deletion

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.3013-3017

2016

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The genotype and phenotype of chromosome 18p deletion syndrome: Case series

Medicine (Baltimore), 2021-05, Vol.100 (18), p.e25777

2021

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Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference

Clinical pediatrics, 2023-05, Vol.62 (4), p.345-348

2023

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Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies

Cellular reprogramming, 2020-08, Vol.22 (4), p.179-188

2020

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Jacobsen syndrome: Chromosome deletion at llq23

Journal of Osteopathic Medicine (Online), 2023-04, Vol.98 (10), p.551-554

2023

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Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification

Movement disorders, 2020-08, Vol.35 (8), p.1457-1462

2020

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ZDHHC15 as a candidate gene for autism spectrum disorder

American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.941-947

2023

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Establishment and characterization of a novel childhood acute lymphoblastic leukemia cell line, HXEX-ALL1, with chromosome 9p and 17p deletions

Cancer cell international, 2019-04, Vol.19 (1), p.113-113, Article 113

2019

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Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome

Journal of clinical immunology, 2022-11, Vol.42 (8), p.1721-1729

2022

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Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management

Current allergy and asthma reports, 2023-04, Vol.23 (4), p.213-222

2023

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IDH-Mutant Astrocytoma With Chromosome 19q13 Deletion Manifesting as an Oligodendroglioma-Like Morphology

Journal of neuropathology and experimental neurology, 2021-03, Vol.80 (3), p.247-253

2021

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Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers

Genome medicine, 2024-06, Vol.16 (1), p.1-21

2024

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Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis

Ultrasound in obstetrics & gynecology, 2013-04, Vol.41 (4), p.375-382

2013

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Chromatin Modifications in 22q11.2 Deletion Syndrome

Journal of clinical immunology, 2021-11, Vol.41 (8), p.1853-1864

2021

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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1336-1351

2011

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Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

EMBO molecular medicine, 2009-04, Vol.1 (1), p.50-65

2009

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Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports

Medicine (Baltimore), 2021-12, Vol.100 (50), p.e28143

2021

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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.195-9, Article 195

2019

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Recurrent enlarged nuchal translucency: First trimester presentation of a familial 15q26→qter deletion

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.612-616

2015

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Prognostic and therapeutic stratification in CLL: focus on 17p deletion and p53 mutation

Annals of hematology, 2018-12, Vol.97 (12), p.2269-2278

2018

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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series

Forward Genetics Approach Reveals Host Genotype-Dependent Importance of Accessory Chromosomes in the Fungal Wheat Pathogen Zymoseptoria tritici

Nine year old boy with chromosome 1q23.3-q25.1 deletion

The genotype and phenotype of chromosome 18p deletion syndrome: Case series

Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference

Generation of Induced Pluripotent Stem Cells from a Female Patient with a Xq27.3-q28 Deletion to Establish Disease Models and Identify Therapies

Jacobsen syndrome: Chromosome deletion at llq23

Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification

ZDHHC15 as a candidate gene for autism spectrum disorder

Establishment and characterization of a novel childhood acute lymphoblastic leukemia cell line, HXEX-ALL1, with chromosome 9p and 17p deletions

Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management

IDH-Mutant Astrocytoma With Chromosome 19q13 Deletion Manifesting as an Oligodendroglioma-Like Morphology

Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers

Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis

Chromatin Modifications in 22q11.2 Deletion Syndrome

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25

Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

Recurrent enlarged nuchal translucency: First trimester presentation of a familial 15q26→qter deletion

Prognostic and therapeutic stratification in CLL: focus on 17p deletion and p53 mutation

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