Prominent publications by Daniel E McGinn

KOL Index score: 6505

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold increased risk conveyed by the 22q11.2 deletion. Using whole-genome sequencing data from 519 unrelated individuals with 22q11.2DS, we conducted genome-wide comparisons of common and rare variants between those with ...

Known for 22q112 Deletion |  Schizophrenia Risk |  Rare Variants |  Genetic Factors |  Psychotic Illness
KOL Index score: 5566

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly ...

Known for Human Pair |  Digeorge Syndrome |  Congenital Heart Disease |  Childrens Hospital |  Chromosome Deletion
KOL Index score: 4462

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region ...

Known for Heart Defects |  Deletion Syndrome |  22q112 Region |  Genome Wide |  Human Pair
KOL Index score: 3219

The most prevalent microdeletion in humans occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has defied elucidation due to its size, regional complexity, and haplotype diversity, and is not well represented in the human genome reference. Most individuals with 22q11.2 deletion syndrome (22q11.2DS) carry a de novo hemizygous deletion of ~ 3 Mbp occurring by non-allelic homologous recombination (NAHR) mediated by LCR22s. In this ...

Known for Optical Mapping |  Human Genome |  22q112 Deletion Syndrome |  Segmental Duplication |  Homologous Recombination
KOL Index score: 2765

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive conditions. Importantly, a dual diagnosis compounds symptoms and impacts ...

Known for Deletion Syndrome |  Dual Diagnosis |  Newborn Screening |  Patients 22q112ds |  Childrens Hospital
KOL Index score: 2208

The 22q11.2 deletion syndrome (22q11DS) is associated with impaired cognitive functions and increased risk for schizophrenia spectrum disorders. Speech and language deficits are prominent, with evidence of decline anteceding emergence of psychosis. There is paucity of data examining language function in children with 22q11DS with follow-up assessment of psychosis spectrum (PS) symptoms. We examined the association between early language measures, obtained clinically, and PS status, ...

Known for Language Measures |  22q112 Deletion Syndrome |  Schizophrenia Spectrum Disorders |  Emergence Psychosis
KOL Index score: 874

BACKGROUND: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field.

OBJECTIVES: We sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome to define biomarkers associated with immune-mediated disease in this syndrome.

METHODS: Chart review validated autoimmune disease and atopic condition diagnoses. Laboratory data were extracted for each ...

Known for 22q112 Deletion Syndrome |  Cohort Patients |  Immune Thrombocytopenia
KOL Index score: 607

Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS remain undefined. In this study, we measured aortic root size and estimated the probability of changing between normal aortic root size and ARD during follow up to understand the prevalence, longitudinal course, and clinical risk factors for ARD in patients with 22q11.2DS ...

Known for Deletion Syndrome |  Patients 22q112 |  Heart Defects |  Aortic Arch
KOL Index score: 298

Intelligence quotient (IQ) testing is standard for evaluating cognitive abilities in genomic studies but requires professional expertise in administration and interpretation, and IQ scores do not translate into insights on implicated brain systems that can link genes to behavior. Individuals with 22q11.2 deletion syndrome (22q11.2DS) often undergo IQ testing to address special needs, but access to testing in resource-limited settings is challenging. The brief Penn Computerized ...

Known for Computerized Neurocognitive |  Exploratory Factor |  Resource Limited
KOL Index score: 172

The 22q11.2 Deletion Syndrome (22q11.2DS) occurs in ~1:3,000-6,000 individuals. Features less typically associated with 22q11.2DS, such as orthopedic manifestations, may be overlooked or may not lead to appropriate diagnostic testing. Club foot has a general population prevalence of ~1:1,000 and has been occasionally described in association with 22q11.2DS. Our hypothesis is that the prevalence of club foot is higher in patients with 22q11.2DS. We performed a retrospective review in two ...


Daniel E McGinn: Influence Statistics

Sample of concepts for which Daniel E McGinn is among the top experts in the world.
Concept World rank
22q center #10
size 22q112ds #12
correlate gp1b #12
gp1b surface #12
gp1bb surface #12
deleted populations #12
gp1bb surface expression #12
deletions gp1bb #12
gp1bb patients #12
deletion status gp1bb #12
expression gp1b #12
gp1b surface expression #12
proximal deletions gp1bb #12
age deletion size #12
gpibb gene #12
deletion size factors #12
22q112ds populations #12
surface expression factors #12
patients gp1bb #12
status gp1bb #12
gp1bb deleted #12
gp1b expression #13
lcr22a lcr22d #16
platelet findings #19
traditional 22q112 fish #20
lcrmediated copynumber losses #20
philadelphia transition #20
arachnodactyly digeorge #20
typical lcr22alcr22d deletions #20
influence counts #23
22q112ds demonstrated #24
philadelphia 22q112 #36
typical deletions #45
gp1b #53
pair adult #58
orthogonal technology #62
proximal deletions #63
syndrome correlate #66
male segmental #71
sequence 22q112 #75
lcr22d #76
correlate platelet #96
22 comorbidity #99

Key People For 22q112 Deletion Syndrome

Top KOLs in the world
Donna M McDonald‐McGinn
deletion syndrome human pair situ hybridization
Elaine H Zackai
human pair deletion syndrome situ hybridization
Beverly S Emanuel
human pair situ hybridization deletion syndrome
Anne Susan Bassett
deletion syndrome human pair intellectual disability
Ann Swillen
deletion syndrome human pair children vcfs
Kathleen E Sullivan
digeorge syndrome usidnet registry systemic lupus erythematosus

Daniel E McGinn:Expert Impact

Concepts for whichDaniel E McGinnhas direct influence:22q112 deletion syndrome,  Deletion syndrome,  22q112 deletion,  22q112 deletion schizophrenia,  Congenital heart disease,  Digeorge syndrome,  Platelet findings,  Conotruncal heart defects.

Daniel E McGinn:KOL impact

Concepts related to the work of other authors for whichfor which Daniel E McGinn has influence:22q112 deletion syndrome,  Schizophrenia risk,  Neurodevelopmental disorders,  Atypical deletions,  Idiopathic scoliosis,  Optical genome mapping,  Congenital heart disease.



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Division of Human Genetics and 22q and You Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School

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