Búsqueda | Biblioteca Virtual en Salud Fronteriza

1.

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.

Biesecker, Leslie G; Byrne, Alicia B; Harrison, Steven M; Pesaran, Tina; Schäffer, Alejandro A; Shirts, Brian H; Tavtigian, Sean V; Rehm, Heidi L.

Am J Hum Genet ; 111(1): 24-38, 2024 Jan 04.

Artículo en Inglés | MEDLINE | ID: mdl-38103548

2.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Walker, Logan C; Hoya, Miguel de la; Wiggins, George A R; Lindy, Amanda; Vincent, Lisa M; Parsons, Michael T; Canson, Daffodil M; Bis-Brewer, Dana; Cass, Ashley; Tchourbanov, Alexander; Zimmermann, Heather; Byrne, Alicia B; Pesaran, Tina; Karam, Rachid; Harrison, Steven M; Spurdle, Amanda B.

Am J Hum Genet ; 110(7): 1046-1067, 2023 07 06.

Artículo en Inglés | MEDLINE | ID: mdl-37352859

3.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver, Vikas; Byrne, Alicia B; Feng, Bing-Jian; Pagel, Kymberleigh A; Mooney, Sean D; Karchin, Rachel; O'Donnell-Luria, Anne; Harrison, Steven M; Tavtigian, Sean V; Greenblatt, Marc S; Biesecker, Leslie G; Radivojac, Predrag; Brenner, Steven E.

Am J Hum Genet ; 109(12): 2163-2177, 2022 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-36413997

4.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian Hy; Chan, Marcus Cy; Fung, Jasmine Lf; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P; Byrne, Alicia B; Scott, Hamish S; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S; Yeung, Alison; Tan, Tiong Y; Taylor, Jenny C; Christodoulou, John; White, Susan M.

J Med Genet ; 59(5): 511-516, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-34183358

5.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael.

Genet Med ; 24(8): 1753-1760, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35579625

6.

Gender Distribution Associated With the Journal Wilderness & Environmental Medicine.

Keyes, Linda E; Schlein, Sarah M; Brown, Alainna B; Polukoff, Natalya E; Byrne, Alicia; Pollock, Neal W.

Wilderness Environ Med ; 33(3): 267-274, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35753901

7.

Gender Equity in Membership, Leadership, and Award Recognition in the Wilderness Medical Society.

Schlein, Sarah M; Pollock, Neal W; Polukoff, Natalya E; Brown, Alainna B; Byrne, Alicia; Keyes, Linda E.

Wilderness Environ Med ; 33(3): 275-283, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35753902

8.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Byrne, Alicia B; Mizumoto, Shuji; Arts, Peer; Yap, Patrick; Feng, Jinghua; Schreiber, Andreas W; Babic, Milena; King-Smith, Sarah L; Barnett, Christopher P; Moore, Lynette; Sugahara, Kazuyuki; Mutlu-Albayrak, Hatice; Nishimura, Gen; Liebelt, Jan E; Yamada, Shuhei; Savarirayan, Ravi; Scott, Hamish S.

J Med Genet ; 57(7): 454-460, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-31988067

9.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Arts, Peer; Garland, Jessica; Byrne, Alicia B; Hardy, Tristan S E; Babic, Milena; Feng, Jinghua; Wang, Paul; Ha, Thuong; King-Smith, Sarah L; Schreiber, Andreas W; Crawford, April; Manton, Nick; Moore, Lynette; Barnett, Christopher P; Scott, Hamish S.

Am J Med Genet A ; 182(5): 1273-1277, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32141698

10.

Causes of cetacean stranding and death on the Catalonian coast (western Mediterranean Sea), 2012-2019.

Cuvertoret-Sanz, María; López-Figueroa, Carlos; O'Byrne, Alicia; Canturri, Albert; Martí-Garcia, Bernat; Pintado, Ester; Pérez, Lola; Ganges, Llilianne; Cobos, Alex; Abarca, María Lourdes; Raga, Juan Antonio; Van Bressem, Marie-François; Domingo, Mariano.

Dis Aquat Organ ; 142: 239-253, 2020 Dec 17.

Artículo en Inglés | MEDLINE | ID: mdl-33331291

11.

matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Arachchi, Harindra; Wojcik, Monica H; Weisburd, Benjamin; Jacobsen, Julius O B; Valkanas, Elise; Baxter, Samantha; Byrne, Alicia B; O'Donnell-Luria, Anne H; Haendel, Melissa; Smedley, Damian; MacArthur, Daniel G; Philippakis, Anthony A; Rehm, Heidi L.

Hum Mutat ; 39(12): 1827-1834, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-30240502

12.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael.

Genet Med ; 25(2): 100004, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36745127

13.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Stenton, Sarah L; Pejaver, Vikas; Bergquist, Timothy; Biesecker, Leslie G; Byrne, Alicia B; Nadeau, Emily; Greenblatt, Marc S; Harrison, Steven; Tavtigian, Sean; Radivojac, Predrag; Brenner, Steven E; O'Donnell-Luria, Anne.

medRxiv ; 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38496501

14.

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Walker, Logan C; de la Hoya, Miguel; Wiggins, George A R; Lindy, Amanda; Vincent, Lisa M; Parsons, Michael T; Canson, Daffodil M; Bis-Brewer, Dana; Cass, Ashley; Tchourbanov, Alexander; Zimmermann, Heather; Byrne, Alicia B; Pesaran, Tina; Karam, Rachid; Harrison, Steven; Spurdle, Amanda B.

medRxiv ; 2023 Feb 26.

Artículo en Inglés | MEDLINE | ID: mdl-36865205

15.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne, Alicia B; Arts, Peer; Ha, Thuong T; Kassahn, Karin S; Pais, Lynn S; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S B; Feng, Jinghua; Wang, Paul; Lawrence, David M; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T Yee; Moore, Lynette; Liebelt, Jan E; Schreiber, Andreas W; King-Smith, Sarah L; Hardy, Tristan S E; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S.

Nat Med ; 29(1): 180-189, 2023 01.

Artículo en Inglés | MEDLINE | ID: mdl-36658419

16.

Faculty Biographies.

Byrne, Alicia.

Wilderness Environ Med ; 28(2S): S1-S2, 2017 06.

Artículo en Inglés | MEDLINE | ID: mdl-28601202

17.

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Byrne, Alicia B; Brouillard, Pascal; Sutton, Drew L; Kazenwadel, Jan; Montazaribarforoushi, Saba; Secker, Genevieve A; Oszmiana, Anna; Babic, Milena; Betterman, Kelly L; Brautigan, Peter J; White, Melissa; Piltz, Sandra G; Thomas, Paul Q; Hahn, Christopher N; Rath, Matthias; Felbor, Ute; Korenke, G Christoph; Smith, Christopher L; Wood, Kathleen H; Sheppard, Sarah E; Adams, Denise M; Kariminejad, Ariana; Helaers, Raphael; Boon, Laurence M; Revencu, Nicole; Moore, Lynette; Barnett, Christopher; Haan, Eric; Arts, Peer; Vikkula, Miikka; Scott, Hamish S; Harvey, Natasha L.

Sci Transl Med ; 14(634): eabm4869, 2022 03 02.

Artículo en Inglés | MEDLINE | ID: mdl-35235341

18.

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

De Angelis, Carla; Byrne, Alicia B; Morrow, Rebecca; Feng, Jinghua; Ha, Thuong; Wang, Paul; Schreiber, Andreas W; Babic, Milena; Taranath, Ajay; Manton, Nick; King-Smith, Sarah L; Schwarz, Quenten; Arts, Peer; Scott, Hamish S; Barnett, Christopher.

BMC Med Genomics ; 14(1): 64, 2021 02 27.

Artículo en Inglés | MEDLINE | ID: mdl-33639934

19.

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.

Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M; Stronge, Edward; Sejourne, Gabrielle M; Isacco, Laura; Partlow, Jennifer N; O'Donnell, Anne; McWalter, Kirsty; Byrne, Alicia B; Barkovich, A James; Yang, Edward; Hill, R Sean; Gawlinski, Pawel; Wiszniewski, Wojciech; Cohen, Julie S; Fatemi, S Ali; Baranano, Kristin W; Sahin, Mustafa; Vossler, David G; Yuskaitis, Christopher J; Walsh, Christopher A.

Neuron ; 106(2): 246-255.e6, 2020 04 22.

Artículo en Inglés | MEDLINE | ID: mdl-32097629

20.

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

Byrne, Alicia B; Arts, Peer; Polyak, Steven W; Feng, Jinghua; Schreiber, Andreas W; Kassahn, Karin S; Hahn, Christopher N; Mordaunt, Dylan A; Fletcher, Janice M; Lipsett, Jillian; Bratkovic, Drago; Booker, Grant W; Smith, Nicholas J; Scott, Hamish S.

NPJ Genom Med ; 4: 28, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31754459

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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Gender Distribution Associated With the Journal Wilderness & Environmental Medicine.

Gender Equity in Membership, Leadership, and Award Recognition in the Wilderness Medical Society.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Causes of cetacean stranding and death on the Catalonian coast (western Mediterranean Sea), 2012-2019.

matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Faculty Biographies.

Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.