List of works - Bernice E. Morrow

22q11.2 deletion syndrome

scientific article published on 19 November 2015

A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice

scientific article

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

scientific article

A Pedigree-Based Map of Recombination in the Domestic Dog Genome

scientific article published on 02 September 2016

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

scientific journal article

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

scientific article

A common molecular basis for rearrangement disorders on chromosome 22q11

scientific article (publication date: July 1999)

A model for transcription termination by RNA polymerase I

article

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions

scientific article published in January 2007

AT-rich palindromes mediate the constitutional t(11;22) translocation.

scientific article

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

scientific article published on 6 February 2007

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry

scientific article published on 11 June 2010

Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

article

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

scientific article

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome

scientific article published on 10 August 2006

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling

scientific article

Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle

scientific article published on June 2010

Changes in the guanine nucleotide-binding proteins, Gi and Go, during differentiation of 3T3-L1 cells

scientific article published on April 1986

Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11

scientific article

Characterization of the past and current duplication activities in the human 22q11.2 region

scientific article (publication date: 26 January 2011)

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study

scientific article

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

scientific article

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice

scientific article

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

scientific article published on 20 June 2019

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

scientific article

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

scientific article published on 16 October 2015

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

scientific article

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

scientific article published on 27 July 2015

Dual embryonic origin of the mammalian otic vesicle forming the inner ear.

scientific article

Endoderm-specific deletion of Tbx1 reveals an FGF-independent role for Tbx1 in pharyngeal apparatus morphogenesis.

scientific article published on 12 June 2014

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

scientific article

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

scientific article published on 28 February 2013

Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome

article

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

scientific article published in August 2003

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

scientific article published on 9 April 2010

Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis

scientific article published in August 2002

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

scientific article published on 09 June 2020

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

scientific article published on 17 July 2019

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

scientific article

Genetic evaluation of American minority pediatric cochlear implant recipients

scientific article published on 09 December 2008

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

scientific article published on January 2008

Genomic disorders on 22q11

scientific article published in May 2002

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

scientific article

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases

scientific article

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

scientific article

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

scientific article

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

scientific article

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

scientific article published on 15 January 2014

Identification of downstream genetic pathways of Tbx1 in the second heart field

scientific article published on 13 February 2008

Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development

scientific article

Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome

scientific article

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations

scientific article published in February 2006

Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

scientific article

Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11

scientific article

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

scientific article

LPA receptor activity is basal specific and coincident with early pregnancy and involution during mammary gland postnatal development

scientific article

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

scientific article

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat

scientific article (publication date: 2014)

Meiotic pachytene arrest in MLH1-deficient mice

scientific journal article

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

scientific journal article

Microduplication and triplication of 22q11.2: a highly variable syndrome

scientific article

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

article

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

scientific article published in February 2015

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

scientific article published on 9 June 2010

Mutations inGJB2,GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

article

New Insights into the Role of Tbx1 in the Digeorge Mouse Model

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

scientific article published on 15 October 2010

Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice

scientific article

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

scientific article published on 3 October 2012

REGULATION OF GROWTH AND DIFFERENTIATION OF EPITHELIAL CELLS BY HORMONES, GROWTH FACTORS, AND SUBSTRATES OF EXTRACELLULAR MATRIX

scientific article published on 01 January 1981

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

scientific article published on 07 January 2016

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.

scientific article

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

scientific article published in August 2010

Risk of meningomyelocele mediated by the common 22q11.2 deletion

scientific article published on 02 May 2024

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

scientific article

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

scientific article

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

article

Suppression of neural fate and control of inner ear morphogenesis by Tbx1

scientific journal article

T-genes and limb bud development

scientific article

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

scientific journal article

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

scientific article

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome

scientific article published on 14 August 2019

Tbx1 and Jag1 act in concert to modulate the fate of neurosensory cells of the mouse otic vesicle

scientific article published on 24 August 2017

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication

scientific article

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning

scientific journal article

The Role of Neural Crest during Cardiac Development in a Mouse Model of DiGeorge Syndrome

article

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

scientific article

Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients

scientific article

Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome

scientific article published in November 2005

Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus

scientific article

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

scientific article published on 21 January 2003

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

scientific article published on 05 October 2018

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

scientific article published on 19 July 2016

Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

scientific article published on 2 July 2015

List of works by Bernice E. Morrow

22q11.2 deletion syndrome

A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

A Pedigree-Based Map of Recombination in the Domestic Dog Genome

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

A common molecular basis for rearrangement disorders on chromosome 22q11

A model for transcription termination by RNA polymerase I

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions

AT-rich palindromes mediate the constitutional t(11;22) translocation.

AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry

Agnathia–otocephaly complex: A case report and examination of the OTX2 and PRRX1 genes

Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome

Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling

Canonical Wnt signaling modulates Tbx1, Eya1, and Six1 expression, restricting neurogenesis in the otic vesicle

Changes in the guanine nucleotide-binding proteins, Gi and Go, during differentiation of 3T3-L1 cells

Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11

Characterization of the past and current duplication activities in the human 22q11.2 region

Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Dual embryonic origin of the mammalian otic vesicle forming the inner ear.

Endoderm-specific deletion of Tbx1 reveals an FGF-independent role for Tbx1 in pharyngeal apparatus morphogenesis.

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome

Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Genetic evaluation of American minority pediatric cochlear implant recipients

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

Genomic disorders on 22q11

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome

Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

Identification of downstream genetic pathways of Tbx1 in the second heart field

Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development

Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations

Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism

Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11

Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

LPA receptor activity is basal specific and coincident with early pregnancy and involution during mammary gland postnatal development

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat

Meiotic pachytene arrest in MLH1-deficient mice

Mesodermal Tbx1 is required for patterning the proximal mandible in mice

Microduplication and triplication of 22q11.2: a highly variable syndrome

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

Mutations inGJB2,GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

New Insights into the Role of Tbx1 in the Digeorge Mouse Model

New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome

Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

REGULATION OF GROWTH AND DIFFERENTIATION OF EPITHELIAL CELLS BY HORMONES, GROWTH FACTORS, AND SUBSTRATES OF EXTRACELLULAR MATRIX

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome

Suppression of neural fate and control of inner ear morphogenesis by Tbx1