Pesquisa | Biblioteca Virtual em Saúde

1.

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

2.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza.

Am J Hum Genet; 105(5): 1048-1056, 2019 Nov 07.

Artigo em Inglês | MEDLINE | ID: mdl-31668703

3.

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

4.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Coban Akdemir, Zeynep; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M; Boerwinkle, Eric; Gibbs, Richard A; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E; Elcioglu, Nursel H; Tuysuz, Beyhan; Lupski, James R.

Am J Hum Genet; 105(1): 132-150, 2019 Jul 03.

Artigo em Inglês | MEDLINE | ID: mdl-31230720

5.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine, Ingrid; Posey, Jennifer E; Grochowski, Christopher M; Jhangiani, Shalini N; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Coban Akdemir, Zeynep; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K Y; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, René; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J; Wilichowski, Ekkehard; Wortmann, Saskia B; Casella, Erasmo B; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M; Bamshad, Michael; Gibbs, Richard A; Sutton, V Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B; Glass, Ian; Lessel, Davor; Lyon, Gholson J.

Am J Hum Genet; 105(2): 302-316, 2019 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-31256877

6.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto, Marie; Waller-Evans, Helen; Ammous, Zineb; Song, Xiaofei; Strauss, Kevin A; Pehlivan, Davut; Gonzaga-Jauregui, Claudia; Puffenberger, Erik G; Holst, Charles R; Karaca, Ender; Brigatti, Karlla W; Maguire, Emily; Coban-Akdemir, Zeynep H; Amagata, Akiko; Lau, C Christopher; Chepa-Lotrea, Xenia; Macnamara, Ellen; Tos, Tulay; Isikay, Sedat; Nehrebecky, Michele; Overton, John D; Klein, Matthew; Markello, Thomas C; Posey, Jennifer E; Adams, David R; Lloyd-Evans, Emyr; Lupski, James R; Gahl, William A; Malicdan, May Christine V.

Am J Hum Genet; 103(5): 794-807, 2018 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-30401460

7.

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

8.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Jordan, Valerie K; Beck, Tyler F; Hernandez-Garcia, Andres; Kundert, Peter N; Kim, Bum-Jun; Jhangiani, Shalini N; Gambin, Tomasz; Starkovich, Molly; Punetha, Jaya; Paine, Ingrid S; Posey, Jennifer E; Li, Alexander H; Muzny, Donna; Hsu, Chih-Wei; Lashua, Amber J; Sun, Xin; Fernandes, Caraciolo J; Dickinson, Mary E; Lally, Kevin P; Gibbs, Richard A; Boerwinkle, Eric; Lupski, James R; Scott, Daryl A.

Hum Mol Genet; 27(12): 2064-2075, 2018 06 15.

Artigo em Inglês | MEDLINE | ID: mdl-29618029

9.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen.

Am J Hum Genet; 101(5): 716-724, 2017 Nov 02.

Artigo em Inglês | MEDLINE | ID: mdl-29100085

10.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana.

Am J Hum Genet; 100(2): 343-351, 2017 Feb 02.

Artigo em Inglês | MEDLINE | ID: mdl-28132692

11.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey, Jennifer E; Harel, Tamar; Liu, Pengfei; Rosenfeld, Jill A; James, Regis A; Coban Akdemir, Zeynep H; Walkiewicz, Magdalena; Bi, Weimin; Xiao, Rui; Ding, Yan; Xia, Fan; Beaudet, Arthur L; Muzny, Donna M; Gibbs, Richard A; Boerwinkle, Eric; Eng, Christine M; Sutton, V Reid; Shaw, Chad A; Plon, Sharon E; Yang, Yaping; Lupski, James R.

N Engl J Med; 376(1): 21-31, 2017 01 05.

Artigo em Inglês | MEDLINE | ID: mdl-27959697

12.

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Ngo, Kathie J; Rexach, Jessica E; Lee, Hane; Petty, Lauren E; Perlman, Susan; Valera, Juliana M; Deignan, Joshua L; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E; Jhangiani, Shalini N; Coban-Akdemir, Zeynep H; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B; Hassin-Baer, Sharon; Poke, Gemma; Neas, Katherine; Geschwind, Michael D; Grody, Wayne W; Gibbs, Richard; Geschwind, Daniel H; Lupski, James R; Below, Jennifer E; Nelson, Stanley F; Fogel, Brent L.

Hum Mutat; 2019 Nov 06.

Artigo em Inglês | MEDLINE | ID: mdl-31692161

13.

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

Chen, Weisheng; Lin, Jiachen; Wang, Lianlei; Li, Xiaoxin; Zhao, Sen; Liu, Jiaqi; Akdemir, Zeynep C; Zhao, Yanxue; Du, Renqian; Ye, Yongyu; Song, Xiaofei; Zhang, Yuanqiang; Yan, Zihui; Yang, Xinzhuang; Lin, Mao; Shen, Jianxiong; Wang, Shengru; Gao, Na; Yang, Ying; Liu, Ying; Li, Wenli; Liu, Jia; Zhang, Na; Yang, Xu; Xu, Yuan; Zhang, Jianguo; Delgado, Mauricio R; Posey, Jennifer E; Qiu, Guixing; Rios, Jonathan J; Liu, Pengfei; Wise, Carol A; Zhang, Feng; Wu, Zhihong; Lupski, James R; Wu, Nan.

Hum Mutat; 2019 Aug 31.

Artigo em Inglês | MEDLINE | ID: mdl-31471994

14.

Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy.

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Linda Rocha, Maria; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F.

Hum Mutat; 2019 Nov 26.

Artigo em Inglês | MEDLINE | ID: mdl-31769566

15.

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E; Palmer, Elizabeth E; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amalia; Vogt, Julie; de Munnik, Sonja A; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Gonçalves, Ana R; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Guillen Sacoto, Maria J; Douglas, Ganka; Alexander, Nora; Buckley, Michael F; Mark, Paul R; Adès, Lesley C; Sandaradura, Sarah A; Lupski, James R.

Hum Mutat; 2019 Oct 23.

Artigo em Inglês | MEDLINE | ID: mdl-31646703

16.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R.

Am J Hum Genet; 99(4): 831-845, 2016 Oct 06.

Artigo em Inglês | MEDLINE | ID: mdl-27640307

17.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey, Jennifer E; O'Donnell-Luria, Anne H; Chong, Jessica X; Harel, Tamar; Jhangiani, Shalini N; Coban Akdemir, Zeynep H; Buyske, Steven; Pehlivan, Davut; Carvalho, Claudia M B; Baxter, Samantha; Sobreira, Nara; Liu, Pengfei; Wu, Nan; Rosenfeld, Jill A; Kumar, Sushant; Avramopoulos, Dimitri; White, Janson J; Doheny, Kimberly F; Witmer, P Dane; Boehm, Corinne; Sutton, V Reid; Muzny, Donna M; Boerwinkle, Eric; Günel, Murat; Nickerson, Deborah A; Mane, Shrikant; MacArthur, Daniel G; Gibbs, Richard A; Hamosh, Ada; Lifton, Richard P; Matise, Tara C; Rehm, Heidi L; Gerstein, Mark; Bamshad, Michael J; Valle, David; Lupski, James R.

Genet Med; 21(4): 798-812, 2019 04.

Artigo em Inglês | MEDLINE | ID: mdl-30655598

18.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

Karaca, Ender; Posey, Jennifer E; Bostwick, Bret; Liu, Pengfei; Gezdirici, Alper; Yesil, Gozde; Coban Akdemir, Zeynep; Bayram, Yavuz; Harms, Frederike L; Meinecke, Peter; Alawi, Malik; Bacino, Carlos A; Sutton, V Reid; Kortüm, Fanny; Lupski, James R.

Am J Med Genet A; 179(10): 2056-2066, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31407851

19.

Perturbations of BMP/TGF-ß and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Wang, Kun; Zhao, Sen; Liu, Bowen; Zhang, Qianqian; Li, Yaqi; Liu, Jiaqi; Shen, Yan; Ding, Xinghuan; Lin, Jiachen; Wu, Yong; Yan, Zihui; Chen, Jia; Li, Xiaoxin; Song, Xiaofei; Niu, Yuchen; Liu, Jian; Chen, Weisheng; Ming, Yue; Du, Renqian; Chen, Cong; Long, Bo; Zhang, Yisen; Tong, Xiangjun; Zhang, Shuyang; Posey, Jennifer E; Zhang, Bo; Wu, Zhihong; Wythe, Joshua D; Liu, Pengfei; Lupski, James R; Yang, Xinjian; Wu, Nan.

J Med Genet; 55(10): 675-684, 2018 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-30120215

20.

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du, Renqian; Dinckan, Nuriye; Song, Xiaofei; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Guven, Yeliz; Aktoren, Oya; Kayserili, Hulya; Petty, Lauren E; Muzny, Donna M; Below, Jennifer E; Boerwinkle, Eric; Wu, Nan; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R; Letra, Ariadne; Uyguner, Z Oya.

Hum Genet; 137(9): 689-703, 2018 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-30046887

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