Phillis Lakeman

Phillis Lakeman

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Phillis Lakeman

Phillis Lakeman

Publications by authors named "Phillis Lakeman"

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Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393656PMC
February 2019

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.

Mol Genet Metab 2019 01 10;126(1):14-22. Epub 2018 Dec 10.

Amsterdam UMC, University of Amsterdam, Psychosocial Department, Emma Children's Hospital, Meibergdreef 9, Amsterdam, Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183055
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http://dx.doi.org/10.1016/j.ymgme.2018.12.004DOI Listing
January 2019

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

J Inherit Metab Dis 2018 09 20;41(5):897-898. Epub 2018 Feb 20.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0151-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186PMC
September 2018

Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study.

J Genet Couns 2018 06 5;27(3):635-646. Epub 2017 Oct 5.

Department of Clinical Genetics, Section Community Genetics, Amsterdam Public Health research institute, VU University Medical Center, PO Box 7057, 1007, MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10897-017-0159-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943376PMC
June 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Bloom syndrome does not always present with sun-sensitive facial erythema.

Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.10.010DOI Listing
February 2018

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.

Eur J Public Health 2017 04;27(2):372-377

Department of Clinical Genetics, Section of Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurpub/ckw110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421354PMC
April 2017

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape.

BMC Health Serv Res 2017 02 16;17(1):146. Epub 2017 Feb 16.

Department of Clinical Genetics, Section of Community Genetics, Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057 (BS7 A-509), 1007 MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s12913-017-2083-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314610PMC
February 2017

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Eur J Hum Genet 2016 Feb 13;24(2):171-7. Epub 2015 May 13.

Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717216PMC
February 2016

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

Hum Mutat 2013 Nov 7;34(11):1486-9. Epub 2013 Oct 7.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.22432DOI Listing
November 2013

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature.

Eur J Pediatr 2012 Mar 15;171(3):425-31. Epub 2011 Sep 15.

Department of Pediatrics, Subdivision of Neonatology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00431-011-1563-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284653PMC
March 2012

[Preconceptional carrier screening should not be delayed].

Ned Tijdschr Geneeskd 2011 ;155:A3205

VU medisch centrum, afd. Klinische Genetica, Amsterdam, the Netherlands.

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September 2011

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.

Hum Reprod 2011 May 28;26(5):972-7. Epub 2011 Feb 28.

Centre for Biomedical Ethics and Law, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1093/humrep/der042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079469PMC
May 2011

Implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies: a sociotechnical analysis.

Health Policy 2007 Oct 21;83(2-3):277-86. Epub 2007 Mar 21.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.healthpol.2007.02.007DOI Listing
October 2007

Developing and optimizing a decisional instrument using self-reported ancestry for carrier screening in a multi-ethnic society.

Genet Med 2006 Aug;8(8):502-9

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.109701.gim.0000232461.11153.9aDOI Listing
August 2006