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1.

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/ß-catenin signalling pathway.

de Nys, Rebekah; Gardner, Alison; van Eyk, Clare; Mincheva-Tasheva, Stefka; Thomas, Paul; Bhattacharjee, Rudrarup; Jolly, Lachlan; Martinez-Garay, Isabel; Fox, Ian W J; Kamath, Karthik Shantharam; Kumar, Raman; Gecz, Jozef.

Mol Psychiatry ; 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38454084

2.

Using Virtual Emergency Medicine Clinicians as a Health System Entry Point (Virtual First): Cross-Sectional Survey Study.

Potter, Jennifer; Watson Gans, Dana; Gardner, Alison; O'Neill, James; Watkins, Christopher; Husain, Iltifat.

J Med Internet Res ; 25: e42840, 2023 08 03.

Artículo en Inglés | MEDLINE | ID: mdl-37276547

3.

Assessment and comparison of microcirculation and macrocirculation in horses undergoing emergency exploratory celiotomy versus elective surgical procedures.

Foth, Patrick W; Gardner, Alison; Pereira, Carolina Ricco; Cooper, Edward; Schroeder, Eric; Mudge, Margaret C.

Vet Surg ; 52(7): 1015-1023, 2023 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-37280741

4.

Computed Tomography Scans in Children With Hemophilia After Minor Head Trauma.

Gardner, Alison; McLean, Thomas W; Winslow, James E.

Pediatr Emerg Care ; 38(1): e27-e28, 2022 Jan 01.

Artículo en Inglés | MEDLINE | ID: mdl-34986584

5.

A Goat Cadaver as a Cost-effective Resource for Teaching Emergency Medicine Procedures in Kijabe, Kenya.

Theroux, Lindly; Steere, Mardi; Katz, Eric; Jewell, Rebekah; Gardner, Alison.

Pediatr Emerg Care ; 38(3): e1097-e1103, 2022 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-34225331

6.

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Field, Michael J; Kumar, Raman; Hackett, Anna; Kayumi, Sayaka; Shoubridge, Cheryl A; Ewans, Lisa J; Ivancevic, Atma M; Dudding-Byth, Tracy; Carroll, Renée; Kroes, Thessa; Gardner, Alison E; Sullivan, Patricia; Ha, Thuong T; Schwartz, Charles E; Cowley, Mark J; Dinger, Marcel E; Palmer, Elizabeth E; Christie, Louise; Shaw, Marie; Roscioli, Tony; Gecz, Jozef; Corbett, Mark A.

Hum Mutat ; 42(7): 835-847, 2021 07.

Artículo en Inglés | MEDLINE | ID: mdl-33847015

7.

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham, Duyen H; Pitman, Melissa R; Kumar, Raman; Jolly, Lachlan A; Schulz, Renee; Gardner, Alison E; de Nys, Rebekah; Heron, Sarah E; Corbett, Mark A; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L; Halliday, Benjamin J; Robertson, Stephen P; Regan, Brigid M; Kirsch, Heidi E; Berkovic, Samuel F; Scheffer, Ingrid E; Pitson, Stuart M; Petrovski, Slave; Gecz, Jozef.

Hum Mutat ; 42(8): 1030-1041, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34082468

8.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng, Hanyin; Dharmadhikari, Avinash V; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E; Crews, Sarah R; Eldomery, Mohammad K; Akdemir, Zeynep Coban; Lewis, Andrea M; Sutton, Vernon R; Rosenfeld, Jill A; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A; van Slegtenhorst, Marjon A; Mancini, Grazia M S; Finnila, Candice R; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S; Bernier, Raphael A; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S; Van Dijck, Anke; Vandeweyer, Geert.

Am J Hum Genet ; 102(5): 985-994, 2018 05 03.

Artículo en Inglés | MEDLINE | ID: mdl-29656860

9.

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Thai, Monica H N; Gardner, Alison; Redpath, Laura; Mattiske, Tessa; Dearsley, Oliver; Shaw, Marie; Vulto-van Silfhout, Anneke T; Pfundt, Rolph; Dixon, Joanne; McGaughran, Julie; Pérez-Jurado, Luis A; Gécz, Jozef; Shoubridge, Cheryl.

Hum Mutat ; 41(8): 1407-1424, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32383243

10.

Not All Stridor Is Croup.

Gardner, Alison; Ruch, Alison.

Pediatr Emerg Care ; 36(1): e14-e17, 2020 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-30256321

11.

Burnout Rates in Pediatric Emergency Medicine Physicians.

Patterson, Jasmine; Gardner, Alison.

Pediatr Emerg Care ; 36(4): 192-195, 2020 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-29200142

12.

Intrasinus bolstering of traumatic maxillary sinus fractures by using Foley catheter balloons in two foals.

Gardner, Alison K; Santschi, Elizabeth M; Mudge, Margaret C; Belknap, James K; Metzler, Anne G.

Vet Surg ; 49(6): 1255-1261, 2020 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-32347989

13.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Kumar, Raman; Gardner, Alison; Homan, Claire C; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E; Mihalic Mosher, Theresa; Gillespie, Meredith K; Brady, Lauren; Tarnopolsky, Mark; Madrigal, Irene; Eiris, Jesús; Domènech Salgado, Laura; Rabionet, Raquel; Strom, Tim M; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E; Field, Michael; Gecz, Jozef.

Hum Mutat ; 39(8): 1126-1138, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29851191

14.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Kumar, Raman; Corbett, Mark A; van Bon, Bregje W M; Woenig, Joshua A; Weir, Lloyd; Douglas, Evelyn; Friend, Kathryn L; Gardner, Alison; Shaw, Marie; Jolly, Lachlan A; Tan, Chuan; Hunter, Matthew F; Hackett, Anna; Field, Michael; Palmer, Elizabeth E; Leffler, Melanie; Rogers, Carolyn; Boyle, Jackie; Bienek, Melanie; Jensen, Corinna; Van Buggenhout, Griet; Van Esch, Hilde; Hoffmann, Katrin; Raynaud, Martine; Zhao, Huiying; Reed, Robin; Hu, Hao; Haas, Stefan A; Haan, Eric; Kalscheuer, Vera M; Gecz, Jozef.

Am J Hum Genet ; 97(2): 302-10, 2015 Aug 06.

Artículo en Inglés | MEDLINE | ID: mdl-26166480

15.

Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.

Gardner, Alison; Wu, Wei; Thomson, Steven; Zangerl-Plessl, Eva-Maria; Stary-Weinzinger, Anna; Sanguinetti, Michael C.

Mol Pharmacol ; 92(4): 437-450, 2017 10.

Artículo en Inglés | MEDLINE | ID: mdl-28705808

16.

Molecular mechanisms of Slo2 K⁺ channel closure.

Giese, M Hunter; Gardner, Alison; Hansen, Angela; Sanguinetti, Michael C.

J Physiol ; 595(7): 2321-2336, 2017 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-27682982

17.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar, Raman; Corbett, Mark A; Van Bon, Bregje W M; Gardner, Alison; Woenig, Joshua A; Jolly, Lachlan A; Douglas, Evelyn; Friend, Kathryn; Tan, Chuan; Van Esch, Hilde; Holvoet, Maureen; Raynaud, Martine; Field, Michael; Leffler, Melanie; Budny, Bartlomiej; Wisniewska, Marzena; Badura-Stronka, Magdalena; Latos-Bielenska, Anna; Batanian, Jacqueline; Rosenfeld, Jill A; Basel-Vanagaite, Lina; Jensen, Corinna; Bienek, Melanie; Froyen, Guy; Ullmann, Reinhard; Hu, Hao; Love, Michael I; Haas, Stefan A; Stankiewicz, Pawel; Cheung, Sau Wai; Baxendale, Anne; Nicholl, Jillian; Thompson, Elizabeth M; Haan, Eric; Kalscheuer, Vera M; Gecz, Jozef.

Hum Mol Genet ; 24(25): 7171-81, 2015 Dec 20.

Artículo en Inglés | MEDLINE | ID: mdl-26443594

18.

Ginsenoside Rg3, a Gating Modifier of EAG Family K+ Channels.

Wu, Wei; Gardner, Alison; Sachse, Frank B; Sanguinetti, Michael C.

Mol Pharmacol ; 90(4): 469-82, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27502018

19.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Hirata, Hiromi; Nanda, Indrajit; van Riesen, Anne; McMichael, Gai; Hu, Hao; Hambrock, Melanie; Papon, Marie-Amélie; Fischer, Ute; Marouillat, Sylviane; Ding, Can; Alirol, Servane; Bienek, Melanie; Preisler-Adams, Sabine; Grimme, Astrid; Seelow, Dominik; Webster, Richard; Haan, Eric; MacLennan, Alastair; Stenzel, Werner; Yap, Tzu Ying; Gardner, Alison; Nguyen, Lam Son; Shaw, Marie; Lebrun, Nicolas; Haas, Stefan A; Kress, Wolfram; Haaf, Thomas; Schellenberger, Elke; Chelly, Jamel; Viot, Géraldine; Shaffer, Lisa G; Rosenfeld, Jill A; Kramer, Nancy; Falk, Rena; El-Khechen, Dima; Escobar, Luis F; Hennekam, Raoul; Wieacker, Peter; Hübner, Christoph; Ropers, Hans-Hilger; Gecz, Jozef; Schuelke, Markus; Laumonnier, Frédéric; Kalscheuer, Vera M.

Am J Hum Genet ; 92(5): 681-95, 2013 May 02.

Artículo en Inglés | MEDLINE | ID: mdl-23623388

20.

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.

Hughes, James N; Aubert, Matthew; Heatlie, Jessica; Gardner, Alison; Gecz, Jozef; Morgan, Thomas; Belsky, Joseph; Thomas, Paul Q.

Clin Endocrinol (Oxf) ; 85(4): 609-15, 2016 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-27146357

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