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Showing 1–8 of 8 results

Advanced filters: Author: Amy Breman Clear advanced filters

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Jinglan Zhang
Jianli Li
Christine M. Eng
Amendments and Corrections20 Feb 2019
Nature Medicine

Volume: 25, P: 701-702
MECP2 duplications in six patients with complex sex chromosome rearrangements

Amy M Breman
Melissa B Ramocki
Sau Wai Cheung
Research01 Dec 2010
European Journal of Human Genetics

Volume: 19, P: 409-415
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

Mouse and human studies reveal that incorrect gene dosage of SHANK3 (a gene linked to some human neuropsychiatric disorders, including autism spectrum disorder) is associated with behavioural abnormalities including mania, possibly because of actin regulation problems in excitatory/inhibitory synapses.

Kihoon Han
J. Lloyd Holder Jr
Huda Y. Zoghbi
Research23 Oct 2013
Nature

Volume: 503, P: 72-77
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

A non-invasive prenatal test utilizing cell-free DNA simultaneously detects mutations in 30 genes frequently associated with dominant monogenic diseases and demonstrates high accuracy in human clinical samples.

Jinglan Zhang
Jianli Li
Christine M. Eng
Research28 Jan 2019
Nature Medicine

Volume: 25, P: 439-447
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Junko Oshima
Jennifer A Lee
Daniela del Gaudio
Research19 May 2011
Journal of Human Genetics

Volume: 56, P: 516-523
Erratum: MECP2 duplications in six patients with complex sex chromosome rearrangements

Amy M Breman
Melissa B Ramocki
Sau Wai Cheung
Amendments and Corrections22 Sept 2011
European Journal of Human Genetics

Volume: 19, P: 1110
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Bo Yuan
Lei Wang
Weimin Bi
Research24 Jun 2020
Genetics in Medicine

Volume: 22, P: 1633-1641
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan
Juanita Neira
Pengfei Liu
Research30 Aug 2018
Genetics in Medicine

Volume: 21, P: 663-675