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1.

Genomic newborn screening for rare diseases.

Stark, Zornitza; Scott, Richard H.

Nat Rev Genet; 24(11): 755-766, 2023 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-37386126

2.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Stark, Zornitza; Foulger, Rebecca E; Williams, Eleanor; Thompson, Bryony A; Patel, Chirag; Lunke, Sebastian; Snow, Catherine; Leong, Ivone U S; Puzriakova, Arina; Daugherty, Louise C; Leigh, Sarah; Boustred, Christopher; Niblock, Olivia; Rueda-Martin, Antonio; Gerasimenko, Oleg; Savage, Kevin; Bellamy, William; Lin, Victor San Kho; Valls, Roman; Gordon, Lavinia; Brittain, Helen K; Thomas, Ellen R A; Taylor Tavares, Ana Lisa; McEntagart, Meriel; White, Susan M; Tan, Tiong Y; Yeung, Alison; Downie, Lilian; Macciocca, Ivan; Savva, Elena; Lee, Crystle; Roesley, Ain; De Fazio, Paul; Deller, Jane; Deans, Zandra C; Hill, Sue L; Caulfield, Mark J; North, Kathryn N; Scott, Richard H; Rendon, Augusto; Hofmann, Oliver; McDonagh, Ellen M.

Am J Hum Genet; 108(9): 1551-1557, 2021 09 02.

Artículo en Inglés | MEDLINE | ID: mdl-34329581

3.

Addition of rapamycin or co-culture with cumulus cells from younger reproductive age women does not improve rescue in vitro oocyte maturation or euploidy rates in older reproductive age women.

Esbert, Marga; Tao, Xin; Ballesteros, Agustín; Yildirim, Raziye Melike; Scott, Richard T; Seli, Emre.

Mol Hum Reprod; 30(2)2024 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-38180884

4.

Effect of intraovarian platelet-rich plasma injection on IVF outcomes in women with poor ovarian response: the PROVA randomized controlled trial.

Herlihy, Nola S; Cakiroglu, Yigit; Whitehead, Christine; Reig, Andres; Tiras, Bulent; Scott, Richard T; Seli, Emre.

Hum Reprod; 2024 May 09.

Artículo en Inglés | MEDLINE | ID: mdl-38725194

5.

Oocyte rescue in-vitro maturation does not adversely affect chromosome segregation during the first meiotic division.

Esbert, Marga; García, Cristina; Cutts, Georgina; Lara-Molina, Evelin; Garrido, Nicolás; Ballestros, Agustín; Scott, Richard T; Seli, Emre; Wells, Dagan.

Reprod Biomed Online; 48(1): 103379, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37919136

6.

Epichloë fungal endophyte interactions in perennial ryegrass (Lolium perenne L.) modified to accumulate foliar lipids for increased energy density.

Richardson, Kim A; de Bonth, Anouck C M; Beechey-Gradwell, Zac; Kadam, Suhas; Cooney, Luke J; Nelson, Kelly A; Cookson, Ruth; Winichayakul, Somrutai; Reid, Michele; Anderson, Philip; Crowther, Tracey; Zou, Xiuying; Maher, Dorothy; Xue, Hong; Scott, Richard W; Allan, Anne; Johnson, Richard D; Card, Stuart D; Mace, Wade J; Roberts, Nicholas J; Bryan, Gregory.

BMC Plant Biol; 23(1): 636, 2023 Dec 11.

Artículo en Inglés | MEDLINE | ID: mdl-38072924

7.

Genomic newborn screening: Are we entering a new era of screening?

Spiekerkoetter, Ute; Bick, David; Scott, Richard; Hopkins, Henrietta; Krones, Tanja; Gross, Edith Sky; Bonham, James R.

J Inherit Metab Dis; 46(5): 778-795, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37403863

8.

Phytoestrogens Present in Follicular Fluid and Urine Are Positively Associated with IVF Outcomes following Single Euploid Embryo Transfer.

Gonzalez-Martin, Roberto; Palomar, Andrea; Quiñonero, Alicia; Pellicer, Nuria; Zuckerman, Caroline; Whitehead, Christine; Scott, Richard T; Dominguez, Francisco.

Int J Mol Sci; 24(13)2023 Jun 29.

Artículo en Inglés | MEDLINE | ID: mdl-37446033

9.

The Impact of Essential Trace Elements on Ovarian Response and Reproductive Outcomes following Single Euploid Embryo Transfer.

Gonzalez-Martin, Roberto; Palomar, Andrea; Quiñonero, Alicia; Pellicer, Nuria; Fernandez-Saavedra, Rocio; Conde-Vilda, Estefania; Quejido, Alberto J; Whitehead, Christine; Scott, Richard T; Dominguez, Francisco.

Int J Mol Sci; 24(13)2023 Jun 30.

Artículo en Inglés | MEDLINE | ID: mdl-37446146

10.

Bioaccumulation of Non-Essential Trace Elements Detected in Women's Follicular Fluid, Urine, and Plasma Is Associated with Poor Reproductive Outcomes following Single Euploid Embryo Transfer: A Pilot Study.

Palomar, Andrea; Gonzalez-Martin, Roberto; Quiñonero, Alicia; Pellicer, Nuria; Fernandez-Saavedra, Rocio; Rucandio, Isabel; Fernandez-Martinez, Rodolfo; Conde-Vilda, Estefania; Quejido, Alberto J; Zuckerman, Caroline; Whitehead, Christine; Scott, Richard T; Dominguez, Francisco.

Int J Mol Sci; 24(17)2023 Aug 24.

Artículo en Inglés | MEDLINE | ID: mdl-37685954

11.

Amide- and bis-amide-linked highly potent and broadly active antifungal agents for the treatment of invasive fungal infections- towards the discovery of pre-clinical development candidate FC12406.

Baugh, Simon D P; Chaly, Anna; Weaver, Damian G; Whitman, David B; Pelletier, Jeffrey C; Bian, Haiyan; Freeman, Katie B; Reitz, Allen B; Scott, Richard W.

Med Chem Res; : 1-17, 2023 May 30.

Artículo en Inglés | MEDLINE | ID: mdl-37362318

12.

Development and validation of an AI-enabled digital breast cancer assay to predict early-stage breast cancer recurrence within 6 years.

Fernandez, Gerardo; Prastawa, Marcel; Madduri, Abishek Sainath; Scott, Richard; Marami, Bahram; Shpalensky, Nina; Cascetta, Krystal; Sawyer, Mary; Chan, Monica; Koll, Giovanni; Shtabsky, Alexander; Feliz, Aaron; Hansen, Thomas; Veremis, Brandon; Cordon-Cardo, Carlos; Zeineh, Jack; Donovan, Michael J.

Breast Cancer Res; 24(1): 93, 2022 12 20.

Artículo en Inglés | MEDLINE | ID: mdl-36539895

13.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine H; Cleaver, Ruth; Baralle, Diana; McEntagart, Meriel; Newbury-Ecob, Ruth; Scott, Richard; Hurst, Jane A; Au, Ping Yee Billie; Hosey, Marie Therese; Khokha, Mustafa; Marciano, Denise K; Lakhani, Saquib A; Liu, Karen J.

Hum Mol Genet; 29(11): 1900-1921, 2020 07 21.

Artículo en Inglés | MEDLINE | ID: mdl-32196547

14.

Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing.

Sun, Siqi; Miller, Maximilian; Wang, Yanran; Tyc, Katarzyna M; Cao, Xiaolong; Scott, Richard T; Tao, Xin; Bromberg, Yana; Schindler, Karen; Xing, Jinchuan.

Hum Genet; 141(10): 1615-1627, 2022 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-35347416

15.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken, Stuart; Firth, Helen V; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J; Lees, Melissa M; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Németh, Andrea H; Scott, Richard H; Wright, Caroline F; Marsh, Joseph A; Hurles, Matthew E; FitzPatrick, David R.

Am J Hum Genet; 105(5): 933-946, 2019 11 07.

Artículo en Inglés | MEDLINE | ID: mdl-31607427

16.

Limits imposed by the experimental design of a large prospective non-inferiority study on PGT-A invalidate many of the conclusions.

Scott, Richard T; de Ziegler, Dominique; Pirtea, Paul; Jalas, Chaim.

Hum Reprod; 37(12): 2735-2742, 2022 11 24.

Artículo en Inglés | MEDLINE | ID: mdl-36287636

17.

Transcriptomic landscape of granulosa cells and peripheral blood mononuclear cells in women with PCOS compared to young poor responders and women with normal response.

Cozzolino, Mauro; Herraiz, Sonia; Titus, Shiny; Roberts, Leah; Romeu, Monica; Peinado, Irene; Scott, Richard T; Pellicer, Antonio; Seli, Emre.

Hum Reprod; 37(6): 1274-1286, 2022 05 30.

Artículo en Inglés | MEDLINE | ID: mdl-35451009

18.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Reid, Kimberley M; Spaull, Robert; Salian, Smrithi; Barwick, Katy; Meyer, Esther; Zhen, Juan; Hirata, Hiromi; Sheipouri, Diba; Benkerroum, Hind; Gorman, Kathleen M; Papandreou, Apostolos; Simpson, Michael A; Hirano, Yoshinobu; Farabella, Irene; Topf, Maya; Grozeva, Detelina; Carss, Keren; Smith, Martin; Pall, Hardev; Lunt, Peter; De Gressi, Susanna; Kamsteeg, Erik-Jan; Haack, Tobias B; Carr, Lucinda; Guerreiro, Rita; Bras, Jose; Maher, Eamonn R; Scott, Richard H; Vandenberg, Robert J; Raymond, F Lucy; Chong, Wui K; Sudhakar, Sniya; Mankad, Kshitij; Reith, Maarten E; Campeau, Philippe M; Harvey, Robert J; Kurian, Manju A.

Mov Disord; 37(10): 2139-2146, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35876425

19.

Calcium Ionophore A23187 treatment to rescue unfertilized oocytes: a prospective randomized analysis of sibling oocytes.

Esbert, Marga; Carmody, Andrew; Ballesteros, Agustín; Seli, Emre; Scott, Richard T.

Reprod Biomed Online; 45(5): 878-883, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-36038485

20.

Wildfire Impact on Indoor and Outdoor PAH Air Quality.

Ghetu, Christine C; Rohlman, Diana; Smith, Brian W; Scott, Richard P; Adams, Kaley A; Hoffman, Peter D; Anderson, Kim A.

Environ Sci Technol; 56(14): 10042-10052, 2022 07 19.

Artículo en Inglés | MEDLINE | ID: mdl-35803593

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