| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2016 | Next Generation Sequencing (NGS) approach to discovery of rare neuro-metabolic disorders | Tarailo Graovac, Maja  | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2016 | Exome Sequencing and the Management of Neurometabolic Disorders | Tarailo Graovac, Maja ; Shyr, Casper; Ross, Colin J.; Horvath, Gabriella A.; Salvarinova, Ramona; Ye, Xin C.; Zhang, Lin-Hua; Bhavsar, Amit P.; Lee, Jessica J.Y.; Drögemöller, Britt I.;
Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R.; Burda, Patricie; Connolly, Mary B.; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A. Mark; Friedman, Jan M.; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; Ogunbayo, Oluseye A.; Rakic, Bojana; Rozmus, Jacob; Ruben, Peter; Sayson, Bryan; Santra, Saikat; Schultz, Kirk R.; Selby, Kathryn; Shekel, Paul; Sirrs, Sandra; Skrypnyk, Cristina; Superti-Furga, Andrea; Turvey, Stuart E.; Van, Allen Margot I.; Wishart, David; Wu, Jiang; Wu, John; Zafeiriou, Dimitrios; Kluijtmans, Leo; Wevers, Ron A.; Eydoux, Patrice; Lehman, Anna M.; Vallance, Hilary; Stockler-Ipsiroglu, Sylvia; Sinclair, Graham; Wasserman, Wyeth W.; van, Karnebeek Clara D.;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2016 | Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy | Lee Jjy; Van Karnebeek Cdm; Drögemoller B; Shyr C; Tarailo Graovac, Maja ; Eydoux P; Ross Cj; Wasserman Ww; Björnson B; Wu Jk | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 2016 | Episodic ataxia associated with a de novo SCN2A mutation | Leach, Emma L.; van, Karnebeek Clara D.M.; Townsend, Katelin N.; Tarailo Graovac, Maja ; Hukin, Juliette; Gibson, William T. | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2016 | Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes | Anastasio, Natascia; Tarailo Graovac, Maja ; Al-Khalifah, Reem; Legault, Laurent; Drogemoller, Britt; Ross, Colin J.D.; Wasserman, Wyeth W.; van, Karnebeek Clara; Buhas, Daniela | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 2016 | Clinical delineation of the PACS1-related syndrome--Report on 19 patients | Schuurs-Hoeijmakers, Janneke H. M.; Landsverk, Megan L.; Foulds, Nicola; Kukolich, Mary K.; Gavrilova, Ralitza H.; Greville-Heygate, Stephanie; Hanson-Kahn, Andrea; Bernstein, Jonathan A.; Glass, Jennifer; Chitayat, David;
Burrow, Thomas A.; Husami, Ammar; Collins, Kathleen; Wusik, Katie; van, der Aa Nathalie; Kooy, Frank; Brown, Kate Tatton; Gadzicki, Dorothea; Kini, Usha; Alvarez, Sara; Fernández-Jaén, Alberto; McGehee, Frank; Selby, Katherine; Tarailo Graovac, Maja
; Van, Allen Margot; van, Karnebeek Clara D. M.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Merico, Daniele; Gregor, Anne; Zweier, Christiane; Hopkin, Robert J.; Chu, Yoyo Wing-Yiu; Chung, Brian Hon-Yin; de, Vries Bert B. A.; Devriendt, Koenraad; Hurles, Matthew E.; Brunner, Han G.; | Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
| 2016 | Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) | Balasubramaniam, Shanti; Lewis, B.; Mock, D. M.; Said, H. M.; Tarailo Graovac, Maja ; Mattman, A.; van, Karnebeek C. D.; Thorburn, D. R.; Rodenburg, R. J.; Christodoulou, J. | Научни чланак | Мп категорија ће бити приказана накнадно. |
| 2016 | Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability | Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka;
Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo Graovac, Maja
; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2016 | Semi-automated bioinformatics approach to exome/genome data analysis for diagnosis and discovery of neurometabolic disease | Tarailo Graovac, Maja ; A Matthews; J Y A Zhu; C Shyr; G A Horvath; R Salvarinova; C J Ross; J J Y Lee; S Stockler-Ipsiroglu; R Wevers;
H Vallance; G Sinclair; C D Van Karnebeek; W W Wasserman;
| Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2016 | NANS-mediated synthesis of sialic acid is required for brain and skeletal development | van, Karnebeek Clara D M; Bonafé, Luisa; Wen, Xiao-Yan; Tarailo Graovac, Maja ; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia;
Breen, Catherine; Donnai, Dian; Cormier-Daire, Valérie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J; Van, Allen Margot I; Rossi, Andrea; Engelke, Udo F; Kluijtmans, Leo A J; van, der Heeft Ed; Renkema, Herma; de, Brouwer Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J; Wevers, Ron A; Superti-Furga, Andrea;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2016 | Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families | Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2015 | Successful development and application of semi-automated gene-discovery NGS bioinformatics pipeline: Knowledge gained through Omics2TreatID | Tarailo Graovac, Maja | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2015 | FLAGS: candidate gene prioritization scheme based on frequently mutated genes in public exomes | Shyr C; Tarailo Graovac, Maja ; Gottlieb M; Lee J J Y; Van Karnebeek C; Wasserman W W | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2015 | The N-acetylneuraminate pyruvate lyase (NPL) gene: a novel cause of free sialic aciduria - but is there a clinical phenotype? | Rakić B; Tarailo Graovac, Maja ; Hansen D; Sinclair G; Lehman A; Vallance H; Van Karnebeek C | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2015 | Spectrum of variations in dog-1/FANCJ and mdf-1/MAD1 defective Caenorhabditis elegans strains after long-term propagation | Tarailo Graovac, Maja ; Wong, Tammy; Qin, Zhaozhao; Flibotte, Stephane; Taylor, Jon; Moerman, Donald G; Rose, Ann M; Chen, Nansheng | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2015 | OMICS2TREATID: A collaborative approach to accelerate the discovery of rare neuro-metabolic diseases | Tarailo Graovac, Maja ; Horvath G; Shyr C; Salvarinova R; Ye C; Wevers R A; Stockler S G; Wasserman W W; Van Karnebeek C | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2015 | The genotypic and phenotypic spectrum of PIGA deficiency | Tarailo Graovac, Maja ; Sinclair, Graham; Stockler-Ipsiroglu, Sylvia; Van, Allen Margot; Rozmus, Jacob; Shyr, Casper; Biancheri, Roberta; Oh, Tracey; Sayson, Bryan; Lafek, Mirafe;
Ross, Colin J; Robinson, Wendy P; Wasserman, Wyeth W; Rossi, Andrea; van, Karnebeek Clara DM;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2015 | Clinical delineation of the PACS1-related Syndrome | Schuurs-Hoeijmakers J H M; Landsverk M L; Foulds N; Kukolich M K; Gavrilova R H; Greville-Heygate S; Hanson-Kwan A; Bernstein J A; Glass J; Chitaya D;
Burrow T A; Hopkin R; Husami A; Collins K; Wusik K; van der Aa N; Kooy F; Tatton Brown K; Gadzicki D; Kini U; Alvarez S; Fernández-Jaén A; McGehee F; van Karnebeek C D M; Van Allen M; Selby K; Tarailo Graovac, Maja
; Stavropoulos D J; Marshall C R; Merico D; Gregor A; Zweier C; Hopkin R; Wing-Yiu Chu Y Chung B; Devriendt K; Hurles M E; Brunner H G; | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
| 2015 | De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome | Langlois, Sylvie; Tarailo Graovac, Maja ; Sayson, Bryan; Drögemöller, Britt; Swenerton, Anne; Ross, Colin JD; Wasserman, Wyeth W; van, Karnebeek Clara DM | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2015 | Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms and vertical gaze palsy | Sirrs S; van Karnebeek C D; Peng X; Shyr C; Tarailo Graovac, Maja ; Mandal R; Testa D; Dubin D; Carbonetti G; Glynn S E;
Sayson B; Robinson W P; Han B; Wishart D; Ross C J; Wasserman W W; Hurwitz T A; Sinclair G; Kaczocha M;
| Конференцијски рад | Мп категорија ће бити приказана накнадно. |