Shahrin Pereira
Overview
Explore the profile of Shahrin Pereira including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
10
Citations
771
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 May;
49(6):969.
PMID: 28546579
No abstract available.
2.
Shaw N, Brand H, Kupchinsky Z, Bengani H, Plummer L, Jones T, et al.
Nat Genet
. 2017 Jan;
49(2):238-248.
PMID: 28067909
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that...
3.
Redin C, Brand H, Collins R, Kammin T, Mitchell E, Hodge J, et al.
Nat Genet
. 2016 Nov;
49(1):36-45.
PMID: 27841880
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects...
4.
Ordulu Z, Kammin T, Brand H, Pillalamarri V, Redin C, Collins R, et al.
Am J Hum Genet
. 2016 Oct;
99(5):1015-1033.
PMID: 27745839
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal...
5.
Ordulu Z, Wong K, Currall B, Ivanov A, Pereira S, Althari S, et al.
Am J Hum Genet
. 2014 Apr;
94(5):695-709.
PMID: 24746958
With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration...
6.
Lindgren A, Hoyos T, Talkowski M, Hanscom C, Blumenthal I, Chiang C, et al.
Hum Genet
. 2013 Jan;
132(5):537-52.
PMID: 23354975
We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence...
7.
Talkowski M, Maussion G, Crapper L, Rosenfeld J, Blumenthal I, Hanscom C, et al.
Am J Hum Genet
. 2012 Dec;
91(6):1128-34.
PMID: 23217328
Large intergenic noncoding (linc) RNAs represent a newly described class of ribonucleic acid whose importance in human disease remains undefined. We identified a severely developmentally delayed 16-year-old female with karyotype...
8.
Talkowski M, Ordulu Z, Pillalamarri V, Benson C, Blumenthal I, Connolly S, et al.
N Engl J Med
. 2012 Dec;
367(23):2226-32.
PMID: 23215558
Conventional cytogenetic testing offers low-resolution detection of balanced karyotypic abnormalities but cannot provide the precise, gene-level knowledge required to predict outcomes. The use of high-resolution whole-genome deep sequencing is currently...
9.
Ernst C, Marshall C, Shen Y, Metcalfe K, Rosenfeld J, Hodge J, et al.
Arch Gen Psychiatry
. 2012 Oct;
69(12):1238-46.
PMID: 23044507
CONTEXT Brain-derived neurotrophic factor (BDNF) is suspected of being a causative factor in psychiatric disorders based on case reports or studies involving large structural anomalies. OBJECTIVE To determine the involvement...
10.
Talkowski M, Rosenfeld J, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, et al.
Cell
. 2012 Apr;
149(3):525-37.
PMID: 22521361
Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33...