Maja Tarailo: search on Z-Library

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1

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1.13 MB

english, 2018

2

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi,

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.77 MB

2020

3

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Sirrs, Sandra, van Karnebeek, Clara DM, Peng, Xiaoxue, Shyr, Casper, Tarailo-Graovac, Maja, Mandal, Rupasri, Testa, Daniel, Dubin, Devin, Carbonetti, Gregory, Glynn, Steven E, Sayson, Bryan, Robinson,

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

4

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1002 KB

english, 2017

5

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, Men

Journal:

New England Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 321 KB

english, 2016

6

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wever

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 898 KB

english, 2018

7

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, Robins

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.72 MB

english, 2015

8

Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome

Horvath, Gabriella A., Tarailo-Graovac, Maja, Bartel, Tanja, Race, Simone, Van Allen, Margot I., Blydt-Hansen, Ingrid, Ross, Colin J., Wasserman, Wyeth W., Connolly, Mary B., van Karnebeek, Clara D. M

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 670 KB

english, 2018

9

Spindle assembly checkpoint genes reveal distinct as well as overlapping expression that implicates MDF-2/Mad2 in postembryonic seam cell proliferation inCaenorhabditis elegans

Maja Tarailo-Graovac, Jun Wang, Jeffrey SC Chu, Domena Tu, David L Baillie, Nansheng Chen

Journal:

BMC Cell Biology

Year:

2010

Language:

english

File:

PDF, 3.57 MB

english, 2010

10

Spectrum of mutational events in the absence of DOG-1/FANCJ in Caenorhabditis elegans

Yang Zhao, Maja Tarailo-Graovac, Nigel J. O’Neil, Ann M. Rose

Journal:

Year:

2008

Language:

english

File:

PDF, 620 KB

english, 2008

11

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

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 2.28 MB

english, 2016

12

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives

Tarailo-Graovac, Maja, Wasserman, Wyeth W., Van Karnebeek, Clara D. M.

Journal:

Expert Review of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 586 KB

english, 2017

13

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 351 KB

2019

14

Genetic Modifiers and Rare Mendelian Disease

Rahit, K. M. Tahsin Hassan, Tarailo-Graovac, Maja

Journal:

Year:

2020

File:

PDF, 1.08 MB

2020

15

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 A

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 297 KB

english, 2016

16

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

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

17

The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias, Horvath, Rita, Baric, Ivo, Husa

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.09 MB

english, 2017

18

Mos1-Mediated Transgenesis to Probe Consequences of Single Gene Mutations in Variation-Rich Isolates of Caenorhabditis elegans

Tarailo-Graovac, Maja, Chen, Nansheng, Dupuy, Denis

Journal:

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

19

Duplication of cyb-3 (cyclin B3) suppresses sterility in the absence of mdf-1/MAD1 spindle assembly checkpoint component in Caenorhabditis elegans

Tarailo-Graovac, Maja, Wang, Jun, Tu, Domena, Baillie, David L., Rose, Ann M., Chen, Nansheng

Journal:

Year:

2010

Language:

english

File:

PDF, 2.23 MB

english, 2010

20

Uncovering Missing Heritability in Rare Diseases

Maroilley, Tatiana, Tarailo-Graovac, Maja

Journal:

Year:

2019

Language:

english

File:

PDF, 458 KB

english, 2019

21

Dissecting the Genetic and Etiological Causes of Primary Microcephaly

Jean, Francesca, Stuart, Amanda, Tarailo-Graovac, Maja

Journal:

Frontiers in Neurology

Year:

2020

File:

PDF, 1.98 MB

2020

22

A mutational analysis of Caenorhabditis elegans in space

Yang Zhao, Kenneth Lai, Iris Cheung, Jillian Youds, Maja Tarailo, Sanja Tarailo, Ann Rose

Journal:

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

Year:

2006

Language:

english

File:

PDF, 467 KB

english, 2006

23

GNAO1 Mutation–Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation

Honey, C. Michael, Malhotra, Armaan K., Tarailo-Graovac, Maja, van Karnebeek, Clara D. M., Horvath, Gabriella, Sulistyanto, Adi

Journal:

Journal of Child Neurology

Year:

2018

Language:

english

File:

PDF, 305 KB

english, 2018

24

SimPEL: Simulation-based power estimation for sequencing studies of low-prevalence conditions

Mak, Lauren, Li, Minghao, Cao, Chen, Gordon, Paul, Tarailo-Graovac, Maja, Bousman, Chad, Wang, Pei, Long, Quan

Journal:

Genetic Epidemiology

Year:

2018

Language:

english

File:

PDF, 686 KB

english, 2018

25

A case of splenomegaly in CBL syndrome

Coe, Rachel R., McKinnon, Margaret L., Tarailo-Graovac, Maja, Ross, Colin J., Wasserman, Wyeth W., Friedman, Jan M., Rogers, Paul C., van Karnebeek, Clara D.M.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 911 KB

english, 2017

26

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Tarailo-Graovac, Maja, Zhu, Jing Yun Alice, Matthews, Allison, van Karnebeek, Clara D M, Wasserman, Wyeth W

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 355 KB

english, 2017

27

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

Journal:

Year:

2015

Language:

english

File:

PDF, 2.36 MB

english, 2015

28

GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation

Gottlieb, Michael M., Arenillas, David J., Maithripala, Savanie, Maurer, Zachary D., TarailoGraovac, Maja, Armstrong, Linlea, Patel, Millan, van Karnebeek, Clara, Wasserman, Wyeth W.

Journal:

Year:

2015

Language:

english

File:

PDF, 384 KB

english, 2015

29

Correction to: FLAGS, frequently mutated genes in public exomes

Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica JY, van Karnebeek, Clara, Wasserman, Wyeth W

Journal:

BMC Medical Genomics

Year:

2017

Language:

english

File:

PDF, 234 KB

english, 2017

30

Genome-wide variations in a natural isolate of the nematodeCaenorhabditis elegans

Vergara, Ismael A, Tarailo-Graovac, Maja, Frech, Christian, Wang, Jun, Qin, Zhaozhao, Zhang, Ting, She, Rong, Chu, Jeffrey SC, Wang, Ke, Chen, Nansheng

Journal:

Year:

2014

Language:

english

File:

PDF, 1.09 MB

english, 2014

31

Expansion of theQARSdeficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Salvarinova, Ramona, Ye, Cynthia X., Rossi, Andrea, Biancheri, Roberta, Roland, Elke H., Pavlidis, Paul, Ross, Colin J., Tarailo-Graovac, Maja, Wasserman, Wyeth W., van Karnebeek, Clara D. M.

Journal:

Year:

2015

Language:

english

File:

PDF, 2.40 MB

english, 2015

32

Corrigendum: 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

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

33

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G > A and a large intragenic inversion in DPYD spanning intron 8 to intron 12

van Kuilenburg, André B.P., Tarailo-Graovac, Maja, Meijer, Judith, Drogemoller, Britt, Vockley, Jerry, Maurer, Dirk, Dobritzsch, Doreen, Ross, Colin J., Wasserman, Wyeth, Meinsma, Rutger, Zoetekouw, L

Journal:

Year:

2018

Language:

english

File:

PDF, 988 KB

english, 2018

34

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja, Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J.Y., Drögemöller, Britt, Imminger, Katrin, Beck, Bodo B., Altm

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

35

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.

Journal:

European Journal of Paediatric Neurology

Year:

2016

Language:

english

File:

PDF, 738 KB

english, 2016

36

Atypical cerebral palsy: genomics analysis enables precision medicine

Matthews, Allison M., Blydt-Hansen, Ingrid, Al-Jabri, Basmah, Andersen, John, Tarailo-Graovac, Maja, Price, Magda, Selby, Katherine, Demos, Michelle, Connolly, Mary, Drögemoller, Britt, Shyr, Casper,

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 303 KB

english, 2018

37

Cyclin B3 and dynein heavy chain cooperate to increase fitness in the absence of mdf-1/MAD1 in Caenorhabditis elegans

Tarailo-Graovac, Maja, Wong, Tammy, Qin, Zhaozhao, Flibotte, Stephane, Taylor, Jon, Moerman, Donald G, Rose, Ann M, Chen, Nansheng

Journal:

Year:

2014

Language:

english

File:

PDF, 1.24 MB

english, 2014

38

The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

Ragotte, Robert J., Dhanrajani, Anita, Pleydell-Pearce, Julian, Del Bel, Kate L., Tarailo-Graovac, Maja, van Karnebeek, Clara, Terry, Jefferson, Senger, Christof, McKinnon, Margaret L., Seear, Michael

Journal:

Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

39

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

Horvath, Gabriella A., Zhao, Yulin, Tarailo-Graovac, Maja, Boelman, Cyrus, Gill, Harinder, Shyr, Casper, Lee, James, Blydt-Hansen, Ingrid, Drögemöller, Britt I., Moreland, Jacqueline, Ross, Colin J.,

Journal:

Year:

2018

Language:

english

File:

PDF, 629 KB

english, 2018

40

FLAGS, frequently mutated genes in public exomes

Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica, van Karnebeek, Clara, Wasserman, Wyeth W

Journal:

BMC Medical Genomics

Year:

2014

Language:

english

File:

PDF, 1.48 MB

english, 2014

41

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, van Cruchten, Arno G., Kulik, Wim, Viel-Oliva, Albert, Bidon-Chanal, Axel, Ross, C

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2019

Language:

english

File:

PDF, 12.28 MB

english, 2019

42

Polymorphic segmental duplication in the nematodeCaenorhabditis elegans

Ismael A Vergara, Allan K Mah, Jim C Huang, Maja Tarailo-Graovac, Robert C Johnsen, David L Baillie, Nansheng Chen

Journal:

Year:

2009

Language:

english

File:

PDF, 481 KB

english, 2009

43

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome

Armstrong, Linlea, Tarailo-Graovac, Maja, Sinclair, Graham, Seath, Kimberly I., Wasserman, Wyeth W., Ross, Colin J., van Karnebeek, Clara D. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

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