Publications by authors named "Louise Bier"

12Publications

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Lancet 2019 02 31;393(10173):758-767. Epub 2019 Jan 31.

Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA; Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)32042-7DOI Listing
February 2019

Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers.

J Genet Couns 2018 06 30;27(3):675-680. Epub 2017 Sep 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1007/s10897-017-0161-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878114PMC
June 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.

Genet Med 2017 06 13;19(6):652-658. Epub 2016 Oct 13.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2016.159DOI Listing
June 2017

Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling.

Genet Med 2013 Feb 30;15(2):146-9. Epub 2012 Aug 30.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/gim.2012.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519952PMC
February 2013