Phillis Lakeman

20062019
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Research Output 2006 2019

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2019

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

Overwater, E., Efrat, R., Barge-Schaapveld, D. Q. C. M., Lakeman, P., Weiss, M. M., Maugeri, A., van Tintelen, J. P. & Houweling, A. C., Feb 2019, In : Molecular Genetics and Genomic Medicine. 7, 2, e00518.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Holtkamp, K. C. A., Henneman, L., Gille, J. J. P., Meijers-Heijboer, H., Cornel, M. C. & Lakeman, P., 4 Apr 2019, In : Journal of Community Genetics. 10, 2, p. 249-257

Research output: Contribution to journalArticleAcademicpeer-review

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E. & 31 othersHakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Arboleda, V. A. & The DDD Study, 1 Apr 2019, In : Genetics in Medicine. 21, 4, p. 850-860

Research output: Contribution to journalArticleAcademicpeer-review

2018

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

Holtkamp, K. C. A., Lakeman, P., Hader, H., Jans, S. M. J. P., Hoenderdos, M., Playfair, H. A. M., Cornel, M. C., Peters, M. & Henneman, L., Jun 2018, In : Journal of Genetic Counseling. 27, 3, p. 635-646

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Mathijssen, I. B., Holtkamp, K. C. A., Ottenheim, C. P. E., van Eeten-Nijman, J. M. C., Lakeman, P., Meijers-Heijboer, H., van Maarle, M. C. & Henneman, L., Feb 2018, In : European Journal of Human Genetics. 26, 2, p. 166-175

Research output: Contribution to journalArticleAcademicpeer-review

2017

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

Holtkamp, K. C. A., Mathijssen, I. B., Lakeman, P., van Maarle, M. C., Dondorp, W. J., Henneman, L. & Cornel, M. C., 1 Apr 2017, In : European Journal of Public Health. 27, 2, p. 372-377 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Phenotypes and genotypes in individuals with SMC1A variants

Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A. M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., FitzPatrick, D., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 othersHorn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Oliver, C., Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 1 Aug 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2108-2125 18 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Holtkamp, K. C. A., Vos, E. M., Rigter, T., Lakeman, P., Henneman, L. & Cornel, M. C., 16 Feb 2017, In : BMC Health Services Research. 17, 1, 146.

Research output: Contribution to journalArticleAcademicpeer-review

2016

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

Holtkamp, K. C. A., van Maarle, M. C., Schouten, M. J. E., Dondorp, W. J., Lakeman, P. & Henneman, L., Feb 2016, In : European Journal of Human Genetics. 24, 2, p. 171-177

Research output: Contribution to journalArticleAcademicpeer-review

Responsible implementation of expanded carrier screening

Henneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., van El, C. G., Forzano, F., Hall, A., Howard, H. C., Janssens, S., Kayserili, H., Lakeman, P., Lucassen, A., Metcalfe, S. A., Vidmar, L., de Wert, G., Dondorp, W. J. & Peterlin, B., Jun 2016, In : European Journal of Human Genetics. 24, 6, p. E1-E12

Research output: Contribution to journalArticleAcademicpeer-review

2014

Detectie van submicroscopische chromosomale afwijkingen door middel van array-diagnostiek

Zwijnenburg, P. J. G., Lakeman, P., Pfundt, R., Klein Wassink-Ruiter, J. S., Kerstjens-Frederikse, W. S. & Ravenswaaij-Arts, C. M. A., 2014, In : Tijdschrift voor Kindergeneeskunde. 82, 1, p. 3-18

Research output: Contribution to journalArticleProfessional

2013

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Rutten, J. W., Boon, E. M. J., Liem, M. K., Dauwerse, J. G., Pont, M. J., Vollebregt, E., Maat-Kievit, A. J., Ginjaar, H. B., Lakeman, P., van Duinen, S. G., Terwindt, G. M. & Oberstein, S. A. J. L., 2013, In : Human Mutation. 34, 11, p. 1486-1489

Research output: Contribution to journalArticleAcademicpeer-review

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Poulter, J. A., Al-Araimi, M., Conte, I., van Genderen, M. M., Sheridan, E., Carr, I. M., Parry, D. A., Shires, M., Carrella, S., Bradbury, J., Khan, K., Lakeman, P., Sergouniotis, P. I., Webster, A. R., Moore, A. T., Pal, B., Mohamed, M. D., Venkataramana, A., Ramprasad, V., Shetty, R. & 9 othersSaktivel, M., Kumaramanickavel, G., Tan, A., Mackey, D. A., Hewitt, A. W., Banfi, S., Ali, M., Inglehearn, C. F. & Toomes, C., 2013, In : American journal of human genetics. 93, 6, p. 1143-1150

Research output: Contribution to journalArticleAcademicpeer-review

2012

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

de Groot-van der Mooren, M. D., Haak, M. C., Lakeman, P., Cohen-Overbeek, T. E., van der Voorn, J. P., Bretschneider, J. H. & van Elburg, R. M., 2012, In : European Journal of Pediatrics. 171, 3, p. 425-431

Research output: Contribution to journalArticleAcademicpeer-review

2011

Legius syndrome in fourteen families

Denayer, E., Chmara, M., Brems, H., Kievit, A. M., van Bever, Y., van den Ouweland, A. M. W., van Minkelen, R., de Goede-Bolder, A., Oostenbrink, R., Lakeman, P., Beert, E., Ishizaki, T., Mori, T., Keymolen, K., van der Ende, J., Mangold, E., Peltonen, S., Brice, G., Rankin, J., van Spaendonck-Zwarts, K. Y. & 2 othersYoshimura, A. & Legius, E., 2011, In : Human Mutation. 32, 1, p. E1985-E1998

Research output: Contribution to journalArticleAcademicpeer-review

Preconceptional carrier screening should not be delayed

Cornel, M. C., Lakeman, P. & Dondorp, W., 2011, In : Nederlands Tijdschrift voor Geneeskunde. 155, A3205.

Research output: Contribution to journalArticleProfessional

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

Borry, P., Henneman, L., Lakeman, P., ten Kate, L. P., Cornel, M. C. & Howard, H. C., 2011, In : Human Reproduction. 26, 5, p. 972-977

Research output: Contribution to journalArticleAcademicpeer-review

Stel preconceptionele dragerschapsscreening niet uit.

Cornel, M. C., Lakeman, P. & Dondorp, W., 14 Sep 2011, In : Nederlands Tijdschrift voor Geneeskunde. 155

Research output: Contribution to journalArticleAcademicpeer-review

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

Perdu, B., Lakeman, P., Mortier, G., Koenig, R., Lachmeijer, A. M. A. & Van Hul, W., 2011, In : Clinical Genetics. 80, 4, p. 383-388

Research output: Contribution to journalArticleAcademicpeer-review

2010

Screenen op dragerschap van erfelijke aandoeningen tijdens het kinderwens spreekuur. Pilot project in Amsterdam

Jans, S. M. P. J., Annegarn, A., Legdeur, M., Henneman, L. & Lakeman, P., 2010, In : Tijdschrift voor verloskundigen. 35, dec, p. 46-48

Research output: Contribution to journalArticleProfessional

2008

CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening

Lakeman, P., Gille, J. J. P., Dankert-Roese, J. E., Heijerman, H. G., Munck, A., Iron, A., Grasemann, H., Schuster, A., Cornel, M. C. & ten Kate, L. P., 2008, In : Genetic Testing. 12, 1, p. 25-35

Research output: Contribution to journalArticleAcademicpeer-review

2007

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

Achterbergh, R., Lakeman, P., Stemerding, D., Moors, E. H. M. & Cornel, M. C., 1 Oct 2007, In : Health Policy. 83, 2-3, p. 277-286 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

2006

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

Lakeman, P., Henneman, L., Bezemer, P. D., Cornel, M. C. & ten Kate, L. P., Aug 2006, In : Genetics in Medicine. 8, 8, p. 502-509

Research output: Contribution to journalArticleAcademicpeer-review