Genetic counselors and legal recognition: A made‐for‐Canada approach

Authors: Lambert, Deborah M., Patrinos, Dimitri, Knoppers, Bartha Maria, Zawati, Ma'n H.

Source: Journal of genetic counseling. 31(1):49-58

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100140078661.0x000001&indx=1&recIds=ETOCvdc_100140078661.0x000001

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.

Authors: Murphy, Jane, Kirk, Claire W., Lambert, Deborah M., McGorrian, Catherine, Walsh, Roddy, McVeigh, Terri P., Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann

Source: Irish Journal of Medical Science; Aug2024, Vol. 193 Issue 4, p1775-1785, 11p

A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland

Authors: Gunne, Emer, McGarvey, Cliona, Hamilton, Karina, Treacy, Eileen, Lambert, Deborah M., Lynch, Sally Ann

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183558983.0x000001&indx=1&recIds=ETOCvdc_100183558983.0x000001

Fatal fetal abnormality Irish live-born survival—an observational study.

Authors: Gunne, Emer, Lynch, Sally Ann, McGarvey, Cliona, Hamilton, Karina, Lambert, Deborah M.

Source: Journal of Community Genetics; Oct2021, Vol. 12 Issue 4, p643-651, 9p

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature

Authors: Gunne, Emer, Lambert, Deborah M., Ward, Alana J., Murphy, Daniel N., Treacy, Eileen P., Lynch, Sally Ann

Source: European Journal of Human Genetics: EJHG; 20220101, Issue: Preprints p1-5, 5p

In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene

Authors: Lambert, Deborah M., Mamer, Orval A., Akerman, Beverley R., Choinière, Luc, Gaudet, Daniel, Hamet, Pavel, Treacy, Eileen P.

Source: In Molecular Genetics and Metabolism July 2001 73(3):224-229

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians

Authors: O'Brien John K, Lambert Deborah M, O'Brien Eoin, Stanton Alice, Shields Denis C, Dolan Ciara, Treacy Eileen P

Source: BMC Medical Genetics, Vol 6, Iss 1, p 41 (2005)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/6/41; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/5e89190845eb436793193584b627e4fc

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Short-chain hydroxyacyl–coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study

Authors: Treacy, Eileen P., Lambert, Deborah M., Barnes, Robert, Boriack, Richard L., Vockley, Jerry, O'Brien, Laurie K., Jones, Patricia M., Bennett, Michael J.

Source: In The Journal of Pediatrics August 2000 137(2):257-259

The role of primary care in management of rare diseases in Ireland.

Authors: Byrne, Niall, Turner, Jacqueline, Marron, Rita, Lambert, Deborah M., Murphy, Daniel N., O'Sullivan, Grace, Mason, Maureen, Broderick, Frank, Burke, Mary C., Casey, Sheila, Doyle, Marguerite, Gibney, David, Mason, Fergus, Molony, David, Ormond, Deirdre, O' Sé, Colm, O'Shea, Conor, Treacy, Eileen P.

Source: Irish Journal of Medical Science; Aug2020, Vol. 189 Issue 3, p771-776, 6p

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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Authors: Nguengang Wakap, Stéphanie, Lambert, Deborah M., Olry, Annie, Rodwell, Charlotte, Gueydan, Charlotte, Lanneau, Valérie, Murphy, Daniel, Le Cam, Yann, Rath, Ana

Source: European Journal of Human Genetics: EJHG; February 2020, Vol. 28 Issue: 2 p165-173, 9p

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Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians.

Authors: Dolan, Ciara, Shields, Denis C, Stanton, Alice, O'Brien, Eoin, Lambert, Deborah M, O'Brien, John K, Treacy, Eileen P

Source: BMC Medical Genetics; 2005, Vol. 6, p1-7, 7p, 6 Charts

Subject Terms: GENETIC polymorphism research, FLAVINS, HYPERTENSION, CARDIOVASCULAR disease diagnosis, MONOOXYGENASES, CARDIOVASCULAR diseases

Reply to E. Vicente et al.

Authors: Rath, Ana, Lambert, Deborah M., Olry, Annie, Rodwell, Charlotte, Le Cam, Yann

Source: European Journal of Human Genetics: EJHG; June 2021, Vol. 29 Issue: 6 p1034-1035, 2p

In VivoVariability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3Gene

Authors: Lambert, Deborah M., Mamer, Orval A., Akerman, Beverley R., Choinière, Luc, Gaudet, Daniel, Hamet, Pavel, Treacy, Eileen P.

Source: Molecular Genetics and Metabolism; July 2001, Vol. 73 Issue: 3 p224-229, 6p

The Camera–Marugo–Cohen syndrome: Report of two new patients

Authors: Lambert, Deborah M., Watters, Gordon, Andermann, Frederick, Kaloustian, Vazken M. Der

Source: American Journal of Medical Genetics. Part A; 17 September 1999, Vol. 86 Issue: 3 p208-214, 7p

Keutel syndrome: Further characterization and review

Authors: Teebi, Ahmad S., Lambert, Deborah M., Kaye, Glenn M., Al-Fifi, Sulaiman, Tewfik, Ted L., Azouz, E. Michel

Source: American Journal of Medical Genetics. Part A; 30 June 1998, Vol. 78 Issue: 2 p182-187, 6p

Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy

Authors: Lambert, Deborah M., Watters, Gordon, Andermann, Frederick, Kaloustian, Vazken M. Der

Source: American Journal of Medical Genetics. Part A; 15 December 2001, Vol. 104 Issue: 4 p343-344, 2p