List of works - Donna M McDonald-McGinn

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

scientific article

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

scientific article

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

scientific article

Practical guidelines for managing patients with 22q11.2 deletion syndrome

scientific article (publication date: August 2011)

Frequency of 22q11 deletions in patients with conotruncal defects

scientific article published on 01 August 1998

22q11.2 deletion syndrome

scientific article published on 19 November 2015

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

scientific article

The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory

scientific article published on August 1, 2001

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

scientific article

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

scientific article

Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study

scientific article published on 8 January 2005

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

scientific article published in February 2008

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

scientific article published in September 2004

Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions

scientific article published on 14 May 2008

Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

scientific article

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

scientific article published in November 2006

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

scientific article

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

scientific article published on December 1, 2001

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

scientific article published on 11 December 2012

Developmental trajectories in 22q11.2 deletion

scientific article published on 18 May 2015

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

scientific article

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature

scientific article published in December 2007

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

scientific article published on 2 October 2003

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

scientific article

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

scientific article

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

scientific article published on 15 October 2010

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

scientific article published in January 2005

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

scientific article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features

scientific article

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

scientific article

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

scientific article

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

scientific article

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

scientific article published on July 2008

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

scientific article published in April 2005

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

scientific article published on 23 September 2015

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

scientific article published on 03 February 2009

The changing epidemiologic spectrum of single-suture synostoses

scientific article published on August 2008

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

scientific article published on 3 March 2006

Neurodevelopmental outcomes in preschool survivors of the Fontan procedure

scientific article published on 2 January 2014

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

scientific article published in February 2015

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

scientific article published on 21 November 2014

Skeletal anomalies and deformities in patients with deletions of 22q11

scientific article published on October 17, 1997

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

scientific article

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

scientific article

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

scientific article published on 28 July 2017

Immune abnormalities are a frequent manifestation of Kabuki syndrome

scientific article published in June 2005

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

scientific article published on 22 February 2018

List of works by Donna M McDonald-McGinn

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Frequency of 22q11 deletions in patients with conotruncal defects

22q11.2 deletion syndrome

Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

The Neurocognitive Phenotype of the 22Q11.2 Deletion Syndrome: Selective Deficit in Visual-Spatial Memory

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome

Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome

Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions

Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

Developmental trajectories in 22q11.2 deletion

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

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

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

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

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

The changing epidemiologic spectrum of single-suture synostoses

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Neurodevelopmental outcomes in preschool survivors of the Fontan procedure

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

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

Skeletal anomalies and deformities in patients with deletions of 22q11

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

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Immune abnormalities are a frequent manifestation of Kabuki syndrome

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants