Robert J Shprintzen
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Explore the profile of Robert J Shprintzen including associated specialties, affiliations and a list of published articles.
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36
Citations
825
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Recent Articles
1.
Rao S, Brundu F, Chen Y, Sun Y, Zhu H, Shprintzen R, et al.
bioRxiv
. 2023 Oct;
PMID: 37873382
Adults and children afflicted with the 22q11.2 deletion syndrome (22q11.2DS) exhibit cognitive, social, and emotional impairments, and are at significantly heightened risk for schizophrenia (SCZ). The impact of this deletion...
2.
Leader G, Curtin A, Shprintzen R, Whelan S, Coyne R, Mannion A
Res Dev Disabil
. 2023 Mar;
136:104491.
PMID: 36965410
Background: 22q11.21 deletion syndrome (22q11DS) is a neurodevelopmental syndrome caused by a microdeletion of genes at the 22q11.21 locus. It has a prevalence of 1:2000. This study investigated the prevalence...
3.
Curtin A, Mannion A, Shprintzen R, Whelan S, Coyne R, Leader G
Am J Med Genet A
. 2021 Dec;
188(4):1040-1047.
PMID: 34908218
22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850-992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms,...
4.
Graf W, Shprintzen R
Neurol Clin Pract
. 2020 Dec;
10(5):375-376.
PMID: 33304644
No abstract available.
5.
Zhao Y, Diacou A, Johnston H, Musfee F, McDonald-McGinn D, McGinn D, et al.
Am J Hum Genet
. 2019 Dec;
106(1):26-40.
PMID: 31870554
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...
6.
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn D, Crowley T, et al.
Am J Med Genet A
. 2018 Oct;
176(10):2172-2181.
PMID: 30289625
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D...
7.
Faedda G, Wachtel L, Higgins A, Shprintzen R
Am J Med Genet A
. 2015 Apr;
167A(9):2150-3.
PMID: 25832449
Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans and is probably the most frequent genetic cause of psychosis currently known. Many psychiatric disorders have been reported to...
8.
Radoeva P, Coman I, Salazar C, Gentile K, Higgins A, Middleton F, et al.
Psychiatr Genet
. 2014 Oct;
24(6):269-72.
PMID: 25325218
Velocardiofacial (VCFS; 22q11.2 deletion) syndrome is a genetic disorder that results from a hemizygous deletion of the q11.2 region on chromosome 22, and is associated with greatly increased risk for...
9.
Delio M, Guo T, McDonald-McGinn D, Zackai E, Herman S, Kaminetzky M, et al.
Am J Hum Genet
. 2013 Mar;
92(3):439-47.
PMID: 23453669
Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between...
10.
Yu S, Graf W, Shprintzen R
Curr Opin Pediatr
. 2012 Nov;
24(6):665-71.
PMID: 23111679
Purpose Of Review: Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat...