List of works - Donna M McDonald-McGinn

Genetic counseling for the 22q11.2 deletion

scientific article published in January 2008

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

scientific article published on 01 January 2003

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

scientific article published on July 24, 1998

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

scientific article

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

scientific article published on October 2003

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

scientific article published in May 2009

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

scientific article published on 28 February 2013

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

scientific article published on March 2008

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

scientific article published in June 2004

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome

scientific article

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

scientific article published on September 2002

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

Metopic craniosynostosis due to mutations in GLI3: A novel association

scientific article published in July 2010

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

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

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

scientific article published on 6 May 2016

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

scientific article published on 9 March 2009

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

scientific article published on 07 January 2016

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

scientific article published in December 2003

Autoimmune disorders in Kabuki syndrome

scientific article published in January 2005

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

scientific article published on May 28, 2013

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

scientific article

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

scientific article published on May 1, 1998

22q11.2 deletion syndrome in diverse populations

scientific article published in April 2017

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

scientific article published in September 2007

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

scientific article

Patient genotypes impact survival after surgery for isolated congenital heart disease

scientific article

Autosomal dominant inheritance of infantile myofibromatosis

scientific article published on 01 April 2004

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

Toriello-Carey syndrome: Delineation and review

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

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

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

scientific article

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

scientific article published on December 2013

Tracheal anomalies in Pfeiffer syndrome

article

22q11.2 Deletion syndrome and obstructive sleep apnea

scientific article

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

scientific article

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

scientific article published on June 18, 2012

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

scientific article published on 11 August 2016

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

scientific article published in December 2009

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

scientific article published on 01 December 2001

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

scientific article published in April 2008

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

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

scientific article

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

scientific article published in August 2005

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

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

scientific article published on September 19, 1997

Ocular findings in the chromosome 22q11.2 deletion syndrome

scientific article published on 30 November 2006

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

scientific article published on October 2015

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

scientific article

List of works by Donna M McDonald-McGinn

Genetic counseling for the 22q11.2 deletion

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

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

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

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

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

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

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

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

Subthreshold psychotic symptoms in 22q11.2 deletion syndrome

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

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

Metopic craniosynostosis due to mutations in GLI3: A novel association

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

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

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

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

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

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

Autoimmune disorders in Kabuki syndrome

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

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

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

22q11.2 deletion syndrome in diverse populations

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

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

Patient genotypes impact survival after surgery for isolated congenital heart disease

Autosomal dominant inheritance of infantile myofibromatosis

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.

Toriello-Carey syndrome: Delineation and review

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

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

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

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

Tracheal anomalies in Pfeiffer syndrome

22q11.2 Deletion syndrome and obstructive sleep apnea

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

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

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

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

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

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

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).

Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome

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

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

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

Ocular findings in the chromosome 22q11.2 deletion syndrome

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

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