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31 results

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Page 1
Estimates of penetrance for recurrent pathogenic copy-number variations.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20. Genet Med. 2013. PMID: 23258348 Free PMC article.
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, 16p13.11 deletions, 16p12.1 deletions, 16p11.2 proximal and distal deletions and duplications, 17q12 …
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C, Jõeloo M, Sadler MC, Tesio N, Ojavee S, Clark CJ, Mägi R; Estonian Biobank Research Team; Reymond A, Kutalik Z. Auwerx C, et al. Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5. Genome Med. 2024. PMID: 38185688 Free PMC article.
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA1 and LDLR increased risk for ovarian cancer and ischemic heart disease, respectively), clarified dosage mechanisms of action (e.g., both in …
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA …
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A. Redaelli S, et al. Int J Mol Sci. 2019 Mar 4;20(5):1095. doi: 10.3390/ijms20051095. Int J Mol Sci. 2019. PMID: 30836598 Free PMC article.
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. ...We ide …
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplicatio …
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion.
Jensen M, Tyryshkina A, Pizzo L, Smolen C, Das M, Huber E, Krishnan A, Girirajan S. Jensen M, et al. Genome Med. 2021 Oct 18;13(1):163. doi: 10.1186/s13073-021-00982-z. Genome Med. 2021. PMID: 34657631 Free PMC article.
METHODS: We performed detailed clinical assessments, whole-genome sequencing, and RNA sequencing of lymphoblastoid cell lines for 32 individuals in five large families with multiple members carrying the 16p12.1 deletion. We identified contributions of the …
METHODS: We performed detailed clinical assessments, whole-genome sequencing, and RNA sequencing of lymphoblastoid cell lines for 32 individ …
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
Okamoto N, Fujii T, Tanaka J, Saito K, Matsui T, Harada N. Okamoto N, et al. Am J Med Genet A. 2014 Jan;164A(1):213-9. doi: 10.1002/ajmg.a.36217. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259393
Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significan …
Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2
Clinical utility gene card for: 16p12.2 microdeletion.
Pizzo L, Andrieux J, Amor DJ, Girirajan S. Pizzo L, et al. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848943 Free PMC article. No abstract available.
The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.
D'Alessandro LC, Werner P, Xie HM, Hakonarson H, White PS, Goldmuntz E. D'Alessandro LC, et al. Congenit Heart Dis. 2014 Jan-Feb;9(1):83-6. doi: 10.1111/chd.12097. Epub 2013 May 20. Congenit Heart Dis. 2014. PMID: 23682798 Free PMC article.
RESULTS: We detected one patient in the left-sided lesion cohort with a large duplication partially overlapping the reported 16p12.1 microdeletion, along with one patient each in the conotruncal and control cohorts with a deletion in the same region. ...CONCL …
RESULTS: We detected one patient in the left-sided lesion cohort with a large duplication partially overlapping the reported 16p12. …
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Bassett AS, et al. Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28. Am J Psychiatry. 2017. PMID: 28750581 Free PMC article.
For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 dele
For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal ner …
A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder.
Martin J, Hosking G, Wadon M, Agha SS, Langley K, Rees E, Owen MJ, O'Donovan M, Kirov G, Thapar A. Martin J, et al. Transl Psychiatry. 2020 May 12;10(1):135. doi: 10.1038/s41398-020-0821-y. Transl Psychiatry. 2020. PMID: 32398668 Free PMC article.
We also identified de novo mutations at four genomic loci (15q13.1-13.2 duplication, 16p13.11 duplication, 16p12.2 deletion and 22q11.21 duplication) that have previously been implicated in other neurodevelopmental disorders, two of which (16p13.11 and 22q11. …
We also identified de novo mutations at four genomic loci (15q13.1-13.2 duplication, 16p13.11 duplication, 16p12.2 deletion
31 results