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1.

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

Karaca, Ender; Weitzer, Stefan; Pehlivan, Davut; Shiraishi, Hiroshi; Gogakos, Tasos; Hanada, Toshikatsu; Jhangiani, Shalini N; Wiszniewski, Wojciech; Withers, Marjorie; Campbell, Ian M; Erdin, Serkan; Isikay, Sedat; Franco, Luis M; Gonzaga-Jauregui, Claudia; Gambin, Tomasz; Gelowani, Violet; Hunter, Jill V; Yesil, Gozde; Koparir, Erkan; Yilmaz, Sarenur; Brown, Miguel; Briskin, Daniel; Hafner, Markus; Morozov, Pavel; Farazi, Thalia A; Bernreuther, Christian; Glatzel, Markus; Trattnig, Siegfried; Friske, Joachim; Kronnerwetter, Claudia; Bainbridge, Matthew N; Gezdirici, Alper; Seven, Mehmet; Muzny, Donna M; Boerwinkle, Eric; Ozen, Mustafa; Clausen, Tim; Tuschl, Thomas; Yuksel, Adnan; Hess, Andreas; Gibbs, Richard A; Martinez, Javier; Penninger, Josef M; Lupski, James R.

Cell; 157(3): 636-50, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24766809

2.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto, Shinya; Jaiswal, Manish; Charng, Wu-Lin; Gambin, Tomasz; Karaca, Ender; Mirzaa, Ghayda; Wiszniewski, Wojciech; Sandoval, Hector; Haelterman, Nele A; Xiong, Bo; Zhang, Ke; Bayat, Vafa; David, Gabriela; Li, Tongchao; Chen, Kuchuan; Gala, Upasana; Harel, Tamar; Pehlivan, Davut; Penney, Samantha; Vissers, Lisenka E L M; de Ligt, Joep; Jhangiani, Shalini N; Xie, Yajing; Tsang, Stephen H; Parman, Yesim; Sivaci, Merve; Battaloglu, Esra; Muzny, Donna; Wan, Ying-Wooi; Liu, Zhandong; Lin-Moore, Alexander T; Clark, Robin D; Curry, Cynthia J; Link, Nichole; Schulze, Karen L; Boerwinkle, Eric; Dobyns, William B; Allikmets, Rando; Gibbs, Richard A; Chen, Rui; Lupski, James R; Wangler, Michael F; Bellen, Hugo J.

Cell; 159(1): 200-214, 2014 Sep 25.

Artigo em Inglês | MEDLINE | ID: mdl-25259927

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.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini, Pamela; Smits, Daphne J; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H; Dremmen, Marjolein; de Wit, Marie Claire Y; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J; Seri, Marco; Jansen, Anna C; Stottmann, Rolf W; Hufnagel, Robert B; Hopkin, Robert J; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Zaki, Maha S; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Bertoli-Avella, Aida; Mirzaa, Ghayda M; Dobyns, William B; Pippucci, Tommaso.

Am J Hum Genet; 105(4): 689-705, 2019 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-31495489

5.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Wiszniewski, Wojciech; Moura de Souza, Carolina Fischinger; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A; Boualla, Lamiae; Blom, Nico A; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Akdemir, Zeynep Hande Coban; Fish, Richard J; Eldomery, Mohammad K; Ratbi, Ilham; Wilde, Arthur A M; de Boer, Teun; Simonds, William F; Neerman-Arbez, Marguerite; Sutton, V Reid; Kok, Fernando; Lupski, James R; Reymond, Alexandre; Bezzina, Connie R; Bakkers, Jeroen; Merla, Giuseppe.

Am J Hum Genet; 99(3): 704-710, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27523599

6.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong, Jessica X; Buckingham, Kati J; Jhangiani, Shalini N; Boehm, Corinne; Sobreira, Nara; Smith, Joshua D; Harrell, Tanya M; McMillin, Margaret J; Wiszniewski, Wojciech; Gambin, Tomasz; Coban Akdemir, Zeynep H; Doheny, Kimberly; Scott, Alan F; Avramopoulos, Dimitri; Chakravarti, Aravinda; Hoover-Fong, Julie; Mathews, Debra; Witmer, P Dane; Ling, Hua; Hetrick, Kurt; Watkins, Lee; Patterson, Karynne E; Reinier, Frederic; Blue, Elizabeth; Muzny, Donna; Kircher, Martin; Bilguvar, Kaya; López-Giráldez, Francesc; Sutton, V Reid; Tabor, Holly K; Leal, Suzanne M; Gunel, Murat; Mane, Shrikant; Gibbs, Richard A; Boerwinkle, Eric; Hamosh, Ada; Shendure, Jay; Lupski, James R; Lifton, Richard P; Valle, David; Nickerson, Deborah A; Bamshad, Michael J.

Am J Hum Genet; 97(2): 199-215, 2015 Aug 06.

Artigo em Inglês | MEDLINE | ID: mdl-26166479

7.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana.

J Allergy Clin Immunol; 139(1): 232-245, 2017 01.

Artigo em Inglês | MEDLINE | ID: mdl-27577878

8.

NR2F1 mutations cause optic atrophy with intellectual disability.

Bosch, Daniëlle G M; Boonstra, F Nienke; Gonzaga-Jauregui, Claudia; Xu, Mafei; de Ligt, Joep; Jhangiani, Shalini; Wiszniewski, Wojciech; Muzny, Donna M; Yntema, Helger G; Pfundt, Rolph; Vissers, Lisenka E L M; Spruijt, Liesbeth; Blokland, Ellen A W; Chen, Chun-An; Lewis, Richard A; Tsai, Sophia Y; Gibbs, Richard A; Tsai, Ming-Jer; Lupski, James R; Zoghbi, Huda Y; Cremers, Frans P M; de Vries, Bert B A; Schaaf, Christian P.

Am J Hum Genet; 94(2): 303-9, 2014 Feb 06.

Artigo em Inglês | MEDLINE | ID: mdl-24462372

9.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu, Hui; Zhang, Victor Wei; Stray-Pedersen, Asbjørg; Hanson, Imelda Celine; Forbes, Lisa R; de la Morena, M Teresa; Chinn, Ivan K; Gorman, Elizabeth; Mendelsohn, Nancy J; Pozos, Tamara; Wiszniewski, Wojciech; Nicholas, Sarah K; Yates, Anne B; Moore, Lindsey E; Berge, Knut Erik; Sorte, Hanne; Bayer, Diana K; ALZahrani, Daifulah; Geha, Raif S; Feng, Yanming; Wang, Guoli; Orange, Jordan S; Lupski, James R; Wang, Jing; Wong, Lee-Jun.

J Allergy Clin Immunol; 138(4): 1142-1151.e2, 2016 10.

Artigo em Inglês | MEDLINE | ID: mdl-27484032

10.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Wiszniewski, Wojciech; Hunter, Jill V; Hanchard, Neil A; Willer, Jason R; Shaw, Chad; Tian, Qi; Illner, Anna; Wang, Xueqing; Cheung, Sau W; Patel, Ankita; Campbell, Ian M; Gelowani, Violet; Hixson, Patricia; Ester, Audrey R; Azamian, Mahshid S; Potocki, Lorraine; Zapata, Gladys; Hernandez, Patricia P; Ramocki, Melissa B; Santos-Cortez, Regie L P; Wang, Gao; York, Michele K; Justice, Monica J; Chu, Zili D; Bader, Patricia I; Omo-Griffith, Lisa; Madduri, Nirupama S; Scharer, Gunter; Crawford, Heather P; Yanatatsaneejit, Pattamawadee; Eifert, Anna; Kerr, Jeffery; Bacino, Carlos A; Franklin, Adiaha I A; Goin-Kochel, Robin P; Simpson, Gayle; Immken, Ladonna; Haque, Muhammad E; Stosic, Marija; Williams, Misti D; Morgan, Thomas M; Pruthi, Sumit; Omary, Reed; Boyadjiev, Simeon A; Win, Kay K; Thida, Aye; Hurles, Matthew; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Van Vinh Chau, Nguyen.

Am J Hum Genet; 93(2): 197-210, 2013 Aug 08.

Artigo em Inglês | MEDLINE | ID: mdl-23810381

11.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Pehlivan, Davut; Beck, Christine R; Okamoto, Yuji; Harel, Tamar; Akdemir, Zeynep H C; Jhangiani, Shalini N; Withers, Marjorie A; Goksungur, Meryem Tuba; Carvalho, Claudia M B; Czesnik, Dirk; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna M; Gibbs, Richard A; Rautenstrauss, Bernd; Sereda, Michael W; Lupski, James R.

Genet Med; 18(5): 443-51, 2016 05.

Artigo em Inglês | MEDLINE | ID: mdl-26378787

12.

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey, Jennifer E; Rosenfeld, Jill A; James, Regis A; Bainbridge, Matthew; Niu, Zhiyv; Wang, Xia; Dhar, Shweta; Wiszniewski, Wojciech; Akdemir, Zeynep H C; Gambin, Tomasz; Xia, Fan; Person, Richard E; Walkiewicz, Magdalena; Shaw, Chad A; Sutton, V Reid; Beaudet, Arthur L; Muzny, Donna; Eng, Christine M; Yang, Yaping; Gibbs, Richard A; Lupski, James R; Boerwinkle, Eric; Plon, Sharon E.

Genet Med; 18(7): 678-85, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-26633545

13.

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

Okamoto, Yuji; Pehlivan, Davut; Wiszniewski, Wojciech; Beck, Christine R; Snipes, G Jackson; Lupski, James R; Khajavi, Mehrdad.

Hum Mol Genet; 22(23): 4698-705, 2013 Dec 01.

Artigo em Inglês | MEDLINE | ID: mdl-23847051

14.

FBN1 contributing to familial congenital diaphragmatic hernia.

Beck, Tyler F; Campeau, Philippe M; Jhangiani, Shalini N; Gambin, Tomasz; Li, Alexander H; Abo-Zahrah, Reem; Jordan, Valerie K; Hernandez-Garcia, Andres; Wiszniewski, Wojciech K; Muzny, Donna; Gibbs, Richard A; Boerwinkle, Eric; Lupski, James R; Lee, Brendan; Reardon, Willie; Scott, Daryl A.

Am J Med Genet A; 167A(4): 831-6, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25736269

15.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Wiszniewski, Wojciech; Moura de Souza, Carolina Fischinger; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A; Boualla, Lamiae; Blom, Nico A; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Coban Akdemir, Zeynep Hande; Fish, Richard J; Eldomery, Mohammad K; Ratbi, Ilham; Wilde, Arthur A M; de Boer, Teun; Simonds, William F; Neerman-Arbez, Marguerite; Sutton, V Reid; Kok, Fernando; Lupski, James R; Reymond, Alexandre; Bezzina, Connie R; Bakkers, Jeroen; Merla, Giuseppe.

Am J Hum Genet; 99(3): 786, 2016 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-27588455

16.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram, Yavuz; Pehlivan, Davut; Karaca, Ender; Gambin, Tomasz; Jhangiani, Shalini N; Erdin, Serkan; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna; Elcioglu, Nursel H; Yildirim, M Selman; Bozkurt, Banu; Zamani, Ayse Gul; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R.

Am J Med Genet A; 164A(9): 2328-34, 2014 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-25045128

17.

Genomic medicine and neurological disease.

Boone, Philip M; Wiszniewski, Wojciech; Lupski, James R.

Hum Genet; 130(1): 103-21, 2011 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-21594611

18.

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Wiszniewski, Wojciech; Lewis, Richard Alan; Stockton, David W; Peng, Jianlan; Mardon, Graeme; Chen, Rui; Lupski, James R.

Hum Genet; 129(3): 319-27, 2011 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-21153841

19.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.

Wat, Margaret J; Enciso, Victoria B; Wiszniewski, Wojciech; Resnick, Trevor; Bader, Patricia; Roeder, Elizabeth R; Freedenberg, Debra; Brown, Chester; Stankiewicz, Pawel; Cheung, Sau-Wai; Scott, Daryl A.

J Med Genet; 47(11): 777-81, 2010 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-20921022

20.

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Oswiecimska, Joanna; Dawidziuk, Mateusz; Gambin, Tomasz; Ziora, Katarzyna; Marek, Marta; Rzonca, Sylwia; Guilbride, D. Lys; Jhangiani, Shalini N.; Obuchowicz, Anna; Sikora, Alicja; Lupski, James R.; Wiszniewski, Wojciech; Gawlinski, Pawel.

J Clin Res Pediatr Endocrinol; 11(3): 319-326, 2019 09 03.

Artigo em Inglês | MEDLINE | ID: mdl-30563316

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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

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

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

NR2F1 mutations cause optic atrophy with intellectual disability.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

FBN1 contributing to familial congenital diaphragmatic hernia.

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Genomic medicine and neurological disease.

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy