Daniel E McGinn: Influence Statistics

Daniel E McGinn

Daniel E McGinn

Division of Human Genetics and 22q and You Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania | Division of Human Genetics, Department of Pediatrics, ...

Daniel E McGinn: Expert Impact

Concepts for which Daniel E McGinn has direct influence: 22q112 deletion syndrome , Deletion syndrome , 22q112 deletion , 22q112 deletion schizophrenia , Congenital heart disease , Digeorge syndrome , Platelet findings .

Daniel E McGinn: KOL impact

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

KOL Resume for Daniel E McGinn

Year
2022

Division of Human Genetics and 22q and You Center, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

2021

Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa.

Children’s Hospital of Philadelphia, Philadelphia, PA, USA

2020

Division of Human Genetics and 22q and You Center, the Children’s Hospital of Philadelphia, Philadelphia, PA, USA

2019

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA

2018

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Davidson College, Davidson, North Carolina

Prominent publications by Daniel E McGinn

KOL-Index: 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 ...
Known for 22q112 Deletion | Schizophrenia Risk | Rare Variants | Genetic Factors
KOL-Index: 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 ...
Known for Human Pair | Digeorge Syndrome | Congenital Heart Disease | Childrens Hospital
KOL-Index: 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 ...
Known for Heart Defects | Deletion Syndrome | 22q112 Region | Genome Wide
KOL-Index: 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 ...
Known for Optical Mapping | Human Genome | 22q112 Deletion Syndrome | Segmental Duplication
KOL-Index: 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 ...
Known for Deletion Syndrome | Dual Diagnosis | Newborn Screening | Patients 22q112ds
KOL-Index: 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 ...
Known for Language Measures | 22q112 Deletion Syndrome | Schizophrenia Spectrum Disorders | Emergence Psychosis
KOL-Index: 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 ...
Known for 22q112 Deletion Syndrome | Cohort Patients | Immune Thrombocytopenia
KOL-Index: 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 ...
Known for Deletion Syndrome | Patients 22q112 | Heart Defects | Aortic Arch
KOL-Index: 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 ...
Known for Computerized Neurocognitive | Exploratory Factor | Resource Limited
KOL-Index: 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 ...

Key People For 22q112 Deletion Syndrome

Top KOLs in the world
#1
Donna M McDonald‐McGinn
deletion syndrome human pair situ hybridization
#2
Elaine H Zackai
human pair deletion syndrome situ hybridization
#3
Beverly S Emanuel
human pair situ hybridization deletion syndrome
#4
Anne Susan Bassett
deletion syndrome human pair intellectual disability
#5
Ann Swillen
deletion syndrome human pair children vcfs
#6
Kathleen E Sullivan
digeorge syndrome usidnet registry systemic lupus erythematosus

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