Pesquisa | Biblioteca Virtual em Saúde

1.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino, Vincenzo A; Palmer, Elizabeth E; McDonell, Laura M; Wang, Li; Adamski, Carolyn J; Koire, Amanda; See, Lauren; Chen, Chun-An; Schaaf, Christian P; Rosenfeld, Jill A; Panzer, Jessica A; Moog, Ute; Hao, Shuang; Bye, Ann; Kirk, Edwin P; Stankiewicz, Pawel; Breman, Amy M; McBride, Arran; Kandula, Tejaswi; Dubbs, Holly A; Macintosh, Rebecca; Cardamone, Michael; Zhu, Ying; Ying, Kevin; Dias, Kerith-Rae; Cho, Megan T; Henderson, Lindsay B; Baskin, Berivan; Morris, Paula; Tao, Jiang; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony; Caluseriu, Oana; Suchowersky, Oksana; Sachdev, Rani K; Lichtarge, Olivier; Tang, Jianrong; Boycott, Kym M; Holder, J Lloyd; Zoghbi, Huda Y.

Cell; 172(5): 924-936.e11, 2018 Feb 22.

Artigo em Inglês | MEDLINE | ID: mdl-29474920

2.

Disruptive CHD8 mutations define a subtype of autism early in development.

Bernier, Raphael; Golzio, Christelle; Xiong, Bo; Stessman, Holly A; Coe, Bradley P; Penn, Osnat; Witherspoon, Kali; Gerdts, Jennifer; Baker, Carl; Vulto-van Silfhout, Anneke T; Schuurs-Hoeijmakers, Janneke H; Fichera, Marco; Bosco, Paolo; Buono, Serafino; Alberti, Antonino; Failla, Pinella; Peeters, Hilde; Steyaert, Jean; Vissers, Lisenka E L M; Francescatto, Ludmila; Mefford, Heather C; Rosenfeld, Jill A; Bakken, Trygve; O'Roak, Brian J; Pawlus, Matthew; Moon, Randall; Shendure, Jay; Amaral, David G; Lein, Ed; Rankin, Julia; Romano, Corrado; de Vries, Bert B A; Katsanis, Nicholas; Eichler, Evan E.

Cell; 158(2): 263-276, 2014 Jul 17.

Artigo em Inglês | MEDLINE | ID: mdl-24998929

3.

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.

Dennis, Megan Y; Nuttle, Xander; Sudmant, Peter H; Antonacci, Francesca; Graves, Tina A; Nefedov, Mikhail; Rosenfeld, Jill A; Sajjadian, Saba; Malig, Maika; Kotkiewicz, Holland; Curry, Cynthia J; Shafer, Susan; Shaffer, Lisa G; de Jong, Pieter J; Wilson, Richard K; Eichler, Evan E.

Cell; 149(4): 912-22, 2012 May 11.

Artigo em Inglês | MEDLINE | ID: mdl-22559943

4.

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Talkowski, Michael E; Rosenfeld, Jill A; Blumenthal, Ian; Pillalamarri, Vamsee; Chiang, Colby; Heilbut, Adrian; Ernst, Carl; Hanscom, Carrie; Rossin, Elizabeth; Lindgren, Amelia M; Pereira, Shahrin; Ruderfer, Douglas; Kirby, Andrew; Ripke, Stephan; Harris, David J; Lee, Ji-Hyun; Ha, Kyungsoo; Kim, Hyung-Goo; Solomon, Benjamin D; Gropman, Andrea L; Lucente, Diane; Sims, Katherine; Ohsumi, Toshiro K; Borowsky, Mark L; Loranger, Stephanie; Quade, Bradley; Lage, Kasper; Miles, Judith; Wu, Bai-Lin; Shen, Yiping; Neale, Benjamin; Shaffer, Lisa G; Daly, Mark J; Morton, Cynthia C; Gusella, James F.

Cell; 149(3): 525-37, 2012 Apr 27.

Artigo em Inglês | MEDLINE | ID: mdl-22521361

5.

Estimates of penetrance for recurrent pathogenic copy-number variations.

Rosenfeld, Jill A; Coe, Bradley P; Eichler, Evan E; Cuckle, Howard; Shaffer, Lisa G.

Genet Med; 15(6): 478-81, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-23258348

6.

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

Hao, Yi-Heng; Fountain, Michael D; Fon Tacer, Klementina; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Rosenfeld, Jill A; Le Caignec, Cédric; Isidor, Bertrand; Krantz, Ian D; Noon, Sarah E; Pfotenhauer, Jean P; Morgan, Thomas M; Moran, Rocio; Pedersen, Robert C; Saenz, Margarita S; Schaaf, Christian P; Potts, Patrick Ryan.

Mol Cell; 59(6): 956-69, 2015 Sep 17.

Artigo em Inglês | MEDLINE | ID: mdl-26365382

7.

A Genocentric Approach to Discovery of Mendelian Disorders.

Hansen, Adam W; Murugan, Mullai; Li, He; Khayat, Michael M; Wang, Liwen; Rosenfeld, Jill; Andrews, B Kim; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Sedlazeck, Fritz J; Ashley-Koch, Allison E; Liu, Pengfei; Muzny, Donna M; Davis, Erica E; Katsanis, Nicholas; Sabo, Aniko; Posey, Jennifer E; Yang, Yaping; Wangler, Michael F; Eng, Christine M; Sutton, V Reid; Lupski, James R; Boerwinkle, Eric; Gibbs, Richard A.

Am J Hum Genet; 105(5): 974-986, 2019 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-31668702

8.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Palmer, Elizabeth E; Hong, Seungbeom; Al Zahrani, Fatema; Hashem, Mais O; Aleisa, Fajr A; Ahmed, Heba M Jalal; Kandula, Tejaswi; Macintosh, Rebecca; Minoche, Andre E; Puttick, Clare; Gayevskiy, Velimir; Drew, Alexander P; Cowley, Mark J; Dinger, Marcel; Rosenfeld, Jill A; Xiao, Rui; Cho, Megan T; Yakubu, Suliat F; Henderson, Lindsay B; Guillen Sacoto, Maria J; Begtrup, Amber; Hamad, Muddathir; Shinawi, Marwan; Andrews, Marisa V; Jones, Marilyn C; Lindstrom, Kristin; Bristol, Ruth E; Kayani, Saima; Snyder, Molly; Villanueva, María Mercedes; Schteinschnaider, Angeles; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Roscioli, Tony; Kirk, Edwin P; Bye, Ann; Merzaban, Jasmeen; Jaremko, Lukasz; Jaremko, Mariusz; Sachdev, Rani K; Alkuraya, Fowzan S; Arold, Stefan T.

Am J Hum Genet; 104(3): 542-552, 2019 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-30827498

9.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Murakami, Yoshiko; Nguyen, Thi Tuyet Mai; Baratang, Nissan; Raju, Praveen K; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C; Maier, Esther M; Haack, Tobias B; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A; Liu, Pengfei; Joosten, Marieke; Rocha, María Eugenia; Hashem, Mais O; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M.

Am J Hum Genet; 105(2): 384-394, 2019 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-31256876

10.

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.

Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Coban Akdemir, Zeynep; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V; Hijazi, Hadia; Grochowski, Christopher M; Jhangiani, Shalini N; Karaca, Ender; Fatih, Jawid M; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E; Ropers, Hans-Hilger; Gibbs, Richard A; Wiszniewski, Wojciech; Lupski, James R; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel.

Am J Hum Genet; 105(5): 1005-1015, 2019 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-31630790

11.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; Bertola, Débora; Yamamoto, Guilherme L; Baratela, Wagner A R; Butler, Merlin G; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H; Krakow, Deborah; Jackson, Andrew P.

Am J Hum Genet; 104(3): 422-438, 2019 Mar 07.

Artigo em Inglês | MEDLINE | ID: mdl-30773277

12.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C; Sullivan, Jennifer A; Shashi, Vandana; Jiang, Yong-Hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F; Turner, Anne; Jones, Wendy D; van Hasselt, Peter M; Hofstede, Floris C; van Gassen, Koen L I; Brooks, Alice S; van Slegtenhorst, Marjon A; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D; Tarpinian, Jennifer M; Rosenfeld, Jill A; Lee, Brendan H; Campeau, Philippe M.

Am J Hum Genet; 104(1): 164-178, 2019 01 03.

Artigo em Inglês | MEDLINE | ID: mdl-30580808

13.

Model System Identification of Novel Congenital Heart Disease Gene Candidates: focus on RPL13.

Schroeder, Analyne M; Allahyari, Massoud; Vogler, Georg; Missinato, Maria A; Nielsen, Tanja; Yu, Michael S; Theis, Jeanne L; Larsen, Lars A; Goyal, Preeya; Rosenfeld, Jill; Nelson, Timothy J; Olson, Timothy M; Colas, Alexandre R; Grossfeld, Paul; Bodmer, Rolf.

Hum Mol Genet; 2019 Oct 18.

Artigo em Inglês | MEDLINE | ID: mdl-31625562

14.

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng, Bobby G; Rosenfeld, Jill A; Emrick, Lisa; Jain, Mahim; Burrage, Lindsay C; Lee, Brendan; Craigen, William J; Bearden, David R; Graham, Brett H; Freeze, Hudson H.

Am J Hum Genet; 2018 Nov 21.

Artigo em Inglês | MEDLINE | ID: mdl-30503518

15.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen, Thi Tuyet Mai; Murakami, Yoshiko; Wigby, Kristen M; Baratang, Nissan V; Rousseau, Justine; St-Denis, Anik; Rosenfeld, Jill A; Laniewski, Stephanie C; Jones, Julie; Iglesias, Alejandro D; Jones, Marilyn C; Masser-Frye, Diane; Scheuerle, Angela E; Perry, Denise L; Taft, Ryan J; Le Deist, Françoise; Thompson, Miles; Kinoshita, Taroh; Campeau, Philippe M.

Am J Hum Genet; 103(4): 602-611, 2018 Oct 04.

Artigo em Inglês | MEDLINE | ID: mdl-30269814

16.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Poli, M Cecilia; Ebstein, Frédéric; Nicholas, Sarah K; de Guzman, Marietta M; Forbes, Lisa R; Chinn, Ivan K; Mace, Emily M; Vogel, Tiphanie P; Carisey, Alexandre F; Benavides, Felipe; Coban-Akdemir, Zeynep H; Gibbs, Richard A; Jhangiani, Shalini N; Muzny, Donna M; Carvalho, Claudia M B; Schady, Deborah A; Jain, Mahim; Rosenfeld, Jill A; Emrick, Lisa; Lewis, Richard A; Lee, Brendan; Zieba, Barbara A; Küry, Sébastien; Krüger, Elke; Lupski, James R; Bostwick, Bret L; Orange, Jordan S.

Am J Hum Genet; 102(6): 1126-1142, 2018 06 07.

Artigo em Inglês | MEDLINE | ID: mdl-29805043

17.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M.

Am J Hum Genet; 103(2): 245-260, 2018 Aug 02.

Artigo em Inglês | MEDLINE | ID: mdl-30057031

18.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan, Clare V; Murray, Jennie E; Parry, David A; Robertson, Andrea; Bellelli, Roberto; Tarnauskaite, Zygimante; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; Santoyo-Lopez, Javier; Aitman, Tim; Barroso, Inês; Basel, Donald; Bicknell, Louise S; Goel, Himanshu; Hu, Hao; Huff, Chad; Hutchison, Michele; Joyce, Caroline; Knox, Rachel; Lacroix, Amy E; Langlois, Sylvie; McCandless, Shawn; McCarrier, Julie; Metcalfe, Kay A; Morrissey, Rose; Murphy, Nuala; Netchine, Irène; O'Connell, Susan M; Olney, Ann Haskins; Paria, Nandina; Rosenfeld, Jill A; Sherlock, Mark; Syverson, Erin; White, Perrin C; Wise, Carol; Yu, Yao; Zacharin, Margaret; Banerjee, Indraneel; Reijns, Martin; Bober, Michael B; Semple, Robert K; Boulton, Simon J; Rios, Jonathan J; Jackson, Andrew P.

Am J Hum Genet; 2018 Nov 23.

Artigo em Inglês | MEDLINE | ID: mdl-30503519

19.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia.

Am J Hum Genet; 103(1): 154-162, 2018 Jul 05.

Artigo em Inglês | MEDLINE | ID: mdl-29961569

20.

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.

Artigo em Inglês | MEDLINE | ID: mdl-29656860

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