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List of works by Donna M McDonald-McGinn

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014

article

22q11.2 Deletion syndrome and obstructive sleep apnea

scientific article

22q11.2 deletion syndrome

scientific article published on 19 November 2015

22q11.2 deletion syndrome in diverse populations

scientific article published in April 2017

22q11.2 deletion syndrome: A tiny piece leading to a big picture

scientific article published on 01 October 2018

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

scientific article published on 6 May 2016

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

scientific article

A 35-year experience with syndromic cleft palate repair: operative outcomes and long-term speech function

scientific article published on December 2014

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

scientific article

A catalog of hemizygous variation in 127 22q11 deletion patients

scientific article published on 14 January 2016

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

scientific article published in January 2010

A human case of SLC35A3-related skeletal dysplasia

scientific article published on 4 August 2017

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

scientific article

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

scientific article published on 24 August 2011

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

scientific article

A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD.

scientific article

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

scientific article published on 21 November 2014

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

scientific article

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

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

scientific article published on July 2008

Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome

scientific article published on 9 March 2009

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

scientific article published on 14 May 2008

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

scientific article published on 22 October 2021

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review

scientific article published on 15 March 2018

Aortic root dilation in patients with 22q11.2 deletion syndrome

scientific article published in May 2009

Arthritis associated with deletion of 22q11.2: More common than previously suspected ⬇️

scientific article published on 01 September 1997

Association of airway abnormalities with 22q11.2 deletion syndrome

scientific article published on 21 February 2017

Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening

scientific article published on 17 October 2013

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

scientific article published on 10 October 2017

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

scientific article

Autoimmune disorders in Kabuki syndrome

scientific article published in January 2005

Autosomal dominant inheritance of infantile myofibromatosis

scientific article published on 01 April 2004

Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants

scientific article published on 7 December 2017

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

scientific article published on 22 February 2018

B cell development in chromosome 22q11.2 deletion syndrome

scientific article published on 9 December 2015

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve

scientific article

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

scientific article published on 10 November 2015

CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia.

scientific article published on September 2002

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

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age ⬇️

scientific article published on 01 December 2001

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web

scientific article published on 01 October 2002

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

scientific article

Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome

scientific article published on May 2007

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

scientific article

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association

scientific article published in December 2003

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis

scientific article published on 13 December 2011

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

scientific article published on 28 September 2016

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

scientific article

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 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

Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found

Craniosynostosis: another feature of the 22q11.2 deletion syndrome

scientific article published in August 2005

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

scientific article published on 27 October 2017

Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis

scientific article published on 14 December 2017

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

scientific article published on 18 January 2018

Developmental trajectories in 22q11.2 deletion

scientific article published on 18 May 2015

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency

scientific article published on 3 August 2012

Disrupted anatomic networks in the 22q11.2 deletion syndrome

scientific article published on 25 August 2016

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

scientific article published on 2 March 2018

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births

scientific article published on 21 February 2017

Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births

scientific article published in December 2005

Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome

scientific article

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

scientific article published in September 2004

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

scientific article published in April 2018

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

scientific article published on 28 February 2013

Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11 ⬇️

scientific article published on September 19, 1997

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

scientific article published on 13 July 2016

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

scientific article

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome

scientific article

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence

scientific article

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

scientific article

Frequency of 22q11 deletions in patients with conotruncal defects ⬇️

scientific article published on 01 August 1998

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

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

scientific article published on 03 February 2020

Genetic counseling for the 22q11.2 deletion

scientific article published in January 2008

Genitourinary malformations in chromosome 22q11.2 deletion

scientific article published on 01 December 2002

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

scientific article published on October 2017

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

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

scientific article

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

scientific article

Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype ⬇️

scientific article published on May 1, 1998

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

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

scientific article

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency

scientific article

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

Immune abnormalities are a frequent manifestation of Kabuki syndrome

scientific article published in June 2005

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome

scientific article published on October 2015

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) ⬇️

scientific article published on May 1, 1998

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome

scientific article published on 01 January 2004

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

scientific article published on 15 October 2010

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

scientific article published on 13 June 2018

Late‐onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history ⬇️

scientific article published on July 29, 2013

Long-term follow-up of three individuals with Kabuki syndrome

scientific article published in March 2004

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

scientific article published in January 2005

Metopic craniosynostosis due to mutations in GLI3: A novel association

scientific article published in July 2010

Molecular genetics of 22q11.2 deletion syndrome

article

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated ⬇️

scientific article published on May 28, 2013

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

scientific article published in February 2015

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

scientific article published in December 2007

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

scientific article published on December 1, 2001

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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

scientific article

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

scientific article

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

scientific article

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

scientific article published on 11 August 2016

Neurodevelopmental outcomes in preschool survivors of the Fontan procedure

scientific article published on 2 January 2014

Neurologic challenges in 22q11.2 deletion syndrome

scientific article published on 26 October 2018

Neuropathological Findings in Eight Children with Cerebro-oculo-facio-skeletal (COFS) Syndrome ⬇️

scientific article published on October 1, 1997

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis

scientific article published on July 2015

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

scientific article published on December 2006

Ocular findings associated with chromosome 22q11.2 duplication

scientific article published on 21 April 2016

Ocular findings in the chromosome 22q11.2 deletion syndrome

scientific article published on 30 November 2006

Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations

scientific article

Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review

scientific article published on 21 November 2017

Otolaryngologic manifestations of the 22q11.2 deletion syndrome

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

Parathyroid hormone reserve in 22q11.2 deletion syndrome

scientific article published on March 2008

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

scientific article published on 02 September 2019

Patient genotypes impact survival after surgery for isolated congenital heart disease

scientific article

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome

scientific article

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

scientific article

Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction

scientific article published on 07 May 2014

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III ⬇️

scientific article published on July 24, 1998

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

scientific article published in November 2006

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

scientific article (publication date: August 2011)

Prenatal genetic testing with chromosomal microarray analysis identifies major risk variants for schizophrenia and other later-onset disorders

scientific article published on December 2013

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome

scientific article published in September 2007

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

RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

retracted scientific article published on 27 September 2017

Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome

scientific article published on August 2004

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

scientific article published on 28 July 2017

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

scientific article published on 07 January 2016

Rates of autism and potential risk factors in children with congenital heart defects

scientific article published on 16 March 2017

Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms

scientific article published in June 2004

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

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

scientific article published on 02 May 2024

Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published on October 2003

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

scientific article published in April 2008

Skeletal anomalies and deformities in patients with deletions of 22q11 ⬇️

scientific article published on October 17, 1997

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

scientific article published on 3 March 2006

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome

scientific article

Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?

scientific article published on 01 January 2003

Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children ⬇️

scientific article published on June 18, 2012

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

scientific article published on 2 October 2003

T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.

scientific article published on 27 September 2017

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

scientific article published in April 2005

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

scientific article published on August 1, 2001

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths

scientific article

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

scientific article

The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome

scientific article published on 22 June 2016

The changing epidemiologic spectrum of single-suture synostoses

scientific article published on August 2008

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

article by Katheryn Grand et al published October 2018 in American Journal of Medical Genetics

The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis

scientific article published on March 2008

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome

scientific article published on December 2009

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

scientific article

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

scientific article published in December 2009

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

scientific article

Toriello-Carey syndrome: Delineation and review

article

Tracheal anomalies in Pfeiffer syndrome

article

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

scientific article published on 09 November 2020

Variability in the Michelin tire syndrome

Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis

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

What's in a name? The 22q11.2 deletion ⬇️

scientific article published on October 17, 1997

White matter microstructural deficits in 22q11.2 deletion syndrome

scientific article published on 24 August 2017

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