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Pamela Renwick

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Recent Articles
1.
Deans Z, Biricik A, De Rycke M, Harton G, Hornak M, Khawaja F, et al.
Prenat Diagn . 2022 Nov; 43(4):506-515. PMID: 36371615
Objective: Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting...
2.
Quarrell O, Delatycki M, Clarke A, Lahiri N, Craufurd D, Miedzybrodzka Z, et al.
J Huntingtons Dis . 2019 Jul; 8(3):357-359. PMID: 31282428
No abstract available.
3.
Lopez S, Renwick P
EJIFCC . 2018 Mar; 18(4):126-129. PMID: 29593454
The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my...
4.
Girardet A, Viart V, Plaza S, Daina G, De Rycke M, des Georges M, et al.
Eur J Hum Genet . 2015 May; 24(4):469-78. PMID: 26014425
Cystic fibrosis (CF) is one of the most common indications for preimplantation genetic diagnosis (PGD) for single gene disorders, giving couples the opportunity to conceive unaffected children without having to...
5.
Dreesen J, Destouni A, Kourlaba G, Degn B, Mette W, Carvalho F, et al.
Eur J Hum Genet . 2013 Dec; 22(8):1012-8. PMID: 24301057
Preimplantation genetic diagnosis (PGD) for monogenic disorders currently involves polymerase chain reaction (PCR)-based methods, which must be robust, sensitive and highly accurate, precluding misdiagnosis. Twelve adverse misdiagnoses reported to the...
6.
Jacquet L, Stephenson E, Collins R, Patel H, Trussler J, Al-Bedaery R, et al.
EMBO Mol Med . 2012 Nov; 5(1):10-7. PMID: 23161805
Here, we describe a pre-derivation embryo haplotyping strategy that we developed in order to maximize the efficiency and minimize the costs of establishing banks of clinical grade hESC lines in...
7.
Deans Z, Fiorentino F, Biricik A, Traeger-Synodinos J, Moutou C, De Rycke M, et al.
Eur J Hum Genet . 2012 Nov; 21(8):800-6. PMID: 23150080
Preimplantation genetic diagnosis (PGD) was first performed over 20 years ago and has become an accepted part of genetic testing and assisted reproduction worldwide. The techniques and protocols necessary to...
8.
Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie C
Reprod Biomed Online . 2010 Feb; 20(4):470-6. PMID: 20144563
Preimplantation genetic diagnosis using whole genome amplification and a haplotyping approach (PGH) was first described in 2006 and suggested as an efficient alternative to single-cell PCR for monogenic disorders. DNA...
9.
Oyewo A, Salubi-Udu J, Khalaf Y, Braude P, Renwick P, Lashwood A, et al.
Hum Fertil (Camb) . 2009 Jun; 12(3):153-9. PMID: 19544123
Introduction: Sickle cell disease (SCD) is a clinically significant hemoglobinopathy with increasing global incidence. We describe our experience of using pre-implantation genetic diagnosis (PGD) for the prevention of SCD at...
10.
Renwick P, Ogilvie C
Expert Rev Mol Diagn . 2006 Dec; 7(1):33-43. PMID: 17187482
Preimplantation genetic diagnosis (PGD) is an established reproductive option for couples at risk of conceiving a pregnancy affected with a known genetic disease, who wish to avoid an (additional) affected...