Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E.

Am J Hum Genet ; 110(9): 1454-1469, 2023 09 07.

Artículo en Inglés | MEDLINE | ID: mdl-37595579

2.

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Zhao, Emily; Bomback, Miles; Khan, Atlas; Krishna Murthy, Sarath; Solowiejczyk, David; Vora, Neeta L; Gilmore, Kelly L; Giordano, Jessica L; Wapner, Ronald J; Sanna-Cherchi, Simone; Lyford, Alex; Jelin, Angie C; Gharavi, Ali G; Hays, Thomas.

Prenat Diagn ; 44(3): 343-351, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38285371

3.

Processing the process: Reflections on genetic counselor-led student supervision groups and practical tips for future facilitators.

Florido, Michelle E; Giordano, Jessica L.

J Genet Couns ; 33(1): 111-117, 2024 02.

Artículo en Inglés | MEDLINE | ID: mdl-38375942

4.

Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.

Martino, Jeremiah; Liu, Qingxue; Vukojevic, Katarina; Ke, Juntao; Lim, Tze Y; Khan, Atlas; Gupta, Yask; Perez, Alejandra; Yan, Zonghai; Milo Rasouly, Hila; Vena, Natalie; Lippa, Natalie; Giordano, Jessica L; Saraga, Marijan; Saraga-Babic, Mirna; Westland, Rik; Bodria, Monica; Piaggio, Giorgio; Bendapudi, Pavan K; Iglesias, Alejandro D; Wapner, Ronald J; Tasic, Velibor; Wang, Fan; Ionita-Laza, Iuliana; Ghiggeri, Gian Marco; Kiryluk, Krzysztof; Sampogna, Rosemary V; Mendelsohn, Cathy L; D'Agati, Vivette D; Gharavi, Ali G; Sanna-Cherchi, Simone.

Genet Med ; 25(12): 100983, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37746849

5.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P; Filges, Isabel; Sparks, Teresa N; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C; Collardeau-Frachon, Sophie; Dempsey, Esther A; Dufke, Andreas; Duyzend, Michael Henri; El Ghosh, Mirna; Giordano, Jessica L; Glad, Ragnhild; Grinfelde, Ieva; Iliescu, Dominic G; Ladewig, Markus S; Munoz-Torres, Monica C; Pollazzon, Marzia; Radio, Francesca Clementina; Rodo, Carlota; Silva, Raquel Gouveia; Smedley, Damian; Sundaramurthi, Jagadish Chandrabose; Toro, Sabrina; Valenzuela, Irene; Vasilevsky, Nicole A; Wapner, Ronald J; Zemet, Roni; Haendel, Melissa A; Robinson, Peter N.

Am J Med Genet C Semin Med Genet ; 190(2): 231-242, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35872606

6.

Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.

Lippa, Natalie; Bier, Louise; Revah-Politi, Anya; May, Halie; Kushary, Sulagna; Vena, Natalie; Giordano, Jessica L; Rasouly, Hila Milo; Cocchi, Enrico; Sands, Tristan T; Wapner, Ronald J; Anyane-Yeboa, Kwame; Gharavi, Ali G; Goldstein, David B.

Genet Med ; 24(4): 862-869, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-35078725

7.

Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID-19 pandemic.

Ma, Daria; Ahimaz, Priyanka R; Mirocha, James M; Cook, Lola; Giordano, Jessica L; Mohan, Pooja; Cohen, Stephanie A.

J Genet Couns ; 30(5): 1214-1223, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34757671

8.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Petrovski, Slavé; Aggarwal, Vimla; Giordano, Jessica L; Stosic, Melissa; Wou, Karen; Bier, Louise; Spiegel, Erica; Brennan, Kelly; Stong, Nicholas; Jobanputra, Vaidehi; Ren, Zhong; Zhu, Xiaolin; Mebane, Caroline; Nahum, Odelia; Wang, Quanli; Kamalakaran, Sitharthan; Malone, Colin; Anyane-Yeboa, Kwame; Miller, Russell; Levy, Brynn; Goldstein, David B; Wapner, Ronald J.

Lancet ; 393(10173): 758-767, 2019 02 23.

Artículo en Inglés | MEDLINE | ID: mdl-30712878

9.

The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration.

Giordano, Jessica L; Wapner, Ronald J.

Prenat Diagn ; 42(7): 807-810, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35661204

10.

Genomics of stillbirth.

Giordano, Jessica L; Wapner, Ronald J.

Semin Perinatol ; 48(1): 151866, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-38238216

11.

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

Van De Weghe, Julie C; Giordano, Jessica L; Mathijssen, Inge B; Mojarrad, Majid; Lugtenberg, Dorien; Miller, Caitlin V; Dempsey, Jennifer C; Mohajeri, Mahsa Sadat Asl; van Leeuwen, Elizabeth; Pajkrt, Eva; Klaver, Caroline C W; Houlden, Henry; Eslahi, Atieh; Waters, Aoife M; Bamshad, Michael J; Nickerson, Deborah A; Aggarwal, Vimla S; de Vries, Bert B A; Maroofian, Reza; Doherty, Dan.

HGG Adv ; 2(1)2021 Jan 14.

Artículo en Inglés | MEDLINE | ID: mdl-33791682

12.

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Abhyankar, Avinash; Lamendola-Essel, Michelle; Brennan, Kelly; Giordano, Jessica L; Esteves, Cecilia; Felice, Vanessa; Wapner, Ronald; Jobanputra, Vaidehi.

Clin Case Rep ; 6(1): 200-205, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-29375865

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