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Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Published in:
Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00957
By:
- Manshaei, Roozbeh;
- Merico, Daniele;
- Reuter, Miriam S.;
- Engchuan, Worrawat;
- Mojarad, Bahareh A.;
- Chaturvedi, Rajiv;
- Heung, Tracy;
- Pellecchia, Giovanna;
- Zarrei, Mehdi;
- Nalpathamkalam, Thomas;
- Khan, Reem;
- Okello, John B. A.;
- Liston, Eriskay;
- Curtis, Meredith;
- Yuen, Ryan K. C.;
- Marshall, Christian R.;
- Jobling, Rebekah K.;
- Oechslin, Erwin;
- Wald, Rachel M.;
- Silversides, Candice K.
Publication type:
Article
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 5, p. 1, doi. 10.15252/emmm.202013258
By:
- van der Welle, Reini E N;
- Jobling, Rebekah;
- Burns, Christian;
- Sanza, Paolo;
- van der Beek, Jan A;
- Fasano, Alfonso;
- Chen, Lan;
- Zwartkruis, Fried J;
- Zwakenberg, Susan;
- Griffin, Edward F;
- ten Brink, Corlinda;
- Veenendaal, Tineke;
- Liv, Nalan;
- van Ravenswaaij‐Arts, Conny M A;
- Lemmink, Henny H;
- Pfundt, Rolph;
- Blaser, Susan;
- Sepulveda, Carolina;
- Lozano, Andres M;
- Yoon, Grace
Publication type:
Article
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Published in:
2020
By:
- Diaz, Jorge;
- Gérard, Xavier;
- Emerit, Michel-Boris;
- Areias, Julie;
- Geny, David;
- Dégardin, Julie;
- Simonutti, Manuel;
- Guerquin, Marie-Justine;
- Collin, Thibault;
- Viollet, Cécile;
- Billard, Jean-Marie;
- Métin, Christine;
- Hubert, Laurence;
- Larti, Farzaneh;
- Kahrizi, Kimia;
- Jobling, Rebekah;
- Agolini, Emanuele;
- Shaheen, Ranad;
- Zigler, Alban;
- Rouiller-Fabre, Virginie
Publication type:
journal article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Published in:
2015
By:
- Jobling, Rebekah K;
- Assoum, Mirna;
- Gakh, Oleksandr;
- Blaser, Susan;
- Raiman, Julian A;
- Mignot, Cyril;
- Roze, Emmanuel;
- Dürr, Alexandra;
- Brice, Alexis;
- Lévy, Nicolas;
- Prasad, Chitra;
- Paton, Tara;
- Paterson, Andrew D;
- Roslin, Nicole M;
- Marshall, Christian R;
- Desvignes, Jean-Pierre;
- Roëckel-Trevisiol, Nathalie;
- Scherer, Stephen W;
- Rouleau, Guy A;
- Mégarbané, André
Publication type:
journal article
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 321, doi. 10.1007/s00439-022-02512-2
By:
- Luca, Stephanie;
- Clausen, Marc;
- Shaw, Angela;
- Lee, Whiwon;
- Krishnapillai, Suvetha;
- Adi-Wauran, Ella;
- Faghfoury, Hanna;
- Costain, Gregory;
- Jobling, Rebekah;
- Aronson, Melyssa;
- Liston, Eriskay;
- Silver, Josh;
- Shuman, Cheryl;
- Chad, Lauren;
- Hayeems, Robin Z.;
- Bombard, Yvonne;
- the Genetics Navigator Study Team;
- Bernier, Francois;
- Brudno, Michael;
- Carroll, June C.
Publication type:
Article
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Published in:
Human Genetics, 2023, v. 142, n. 2, p. 201, doi. 10.1007/s00439-022-02494-1
By:
- Ding, Qiliang;
- Somerville, Cherith;
- Manshaei, Roozbeh;
- Trost, Brett;
- Reuter, Miriam S.;
- Kalbfleisch, Kelsey;
- Stanley, Kaitlin;
- Okello, John B. A.;
- Hosseini, S. Mohsen;
- Liston, Eriskay;
- Curtis, Meredith;
- Zarrei, Mehdi;
- Higginbotham, Edward J.;
- Chan, Ada J. S.;
- Engchuan, Worrawat;
- Thiruvahindrapuram, Bhooma;
- Scherer, Stephen W.;
- Kim, Raymond H.;
- Jobling, Rebekah K.
Publication type:
Article
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3106, doi. 10.1002/ajmg.a.62932
By:
- Vogt, Lindsey M.;
- Lorenzo, Melissa;
- B. Prendergast, D'Arcy;
- Jobling, Rebekah;
- Gill, Peter J.
Publication type:
Article
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2145, doi. 10.1002/ajmg.a.61740
By:
- Curtis, Meredith;
- Baribeau, Danielle;
- Walker, Susan;
- Carter, Melissa;
- Costain, Gregory;
- Lamoureux, Sylvia;
- Liston, Eriskay;
- Marshall, Christian R.;
- Reuter, Miriam S.;
- Snell, Meaghan;
- Summers, Jane;
- Vorstman, Jacob;
- Jobling, Rebekah K.
Publication type:
Article
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1325, doi. 10.1002/ajmg.a.61162
By:
- Bourque, Danielle K.;
- Fonseca, Inara Chacon;
- Staines, Andrea;
- Teitelbaum, Ronni;
- Axford, Michelle M.;
- Jobling, Rebekah;
- Chiasson, David;
- Chitayat, David
Publication type:
Article
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
Published in:
BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01166-3
By:
- Manshaei, Roozbeh;
- DeLong, Sean;
- Andric, Veronica;
- Joshi, Esha;
- Okello, John B. A.;
- Dhir, Priya;
- Somerville, Cherith;
- Farncombe, Kirsten M.;
- Kalbfleisch, Kelsey;
- Jobling, Rebekah K.;
- Scherer, Stephen W.;
- Kim, Raymond H.;
- Hosseini, S. Mohsen
Publication type:
Article
A call for increased inclusivity and global representation in pharmacogenetic testing.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00403-1
By:
- Kennedy, April;
- Ma, Gabriel;
- Manshaei, Roozbeh;
- Jobling, Rebekah K.;
- Kim, Raymond H.;
- Lewis, Tamorah;
- Cohn, Iris
Publication type:
Article
Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 3, doi. 10.1002/jmd2.12079
By:
- Al Balushi, Aaisha;
- Matviychuk, Diana;
- Jobling, Rebekah;
- Salomons, Gajja S.;
- Blaser, Susan;
- Mercimek‐Andrews, Saadet
Publication type:
Article
Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Published in:
G3: Genes | Genomes | Genetics, 2015, v. 5, n. 8, p. 1775, doi. 10.1534/g3.115.019851
By:
- Marshall, Christian R.;
- Scherer, Stephen W.;
- Zariwala, Maimoona A.;
- Lau, Lynette;
- Paton, Tara A.;
- Stockley, Tracy;
- Jobling, Rebekah K.;
- Ray, Peter N.;
- Knowles, Michael R.;
- Hall, David A.;
- Dell, Sharon D.;
- Kim, Raymond H.
Publication type:
Article
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0618-0
By:
- Papaz, Tanya;
- Liston, Eriskay;
- Zahavich, Laura;
- Stavropoulos, Dimitri J.;
- Jobling, Rebekah K.;
- Kim, Raymond H.;
- Reuter, Miriam;
- Miron, Anastasia;
- Oechslin, Erwin;
- Mondal, Tapas;
- Bergin, Lynn;
- Smythe, John F.;
- Altamirano-Diaz, Luis;
- Lougheed, Jane;
- Yao, Roderick;
- Akinrinade, Oyediran;
- Breckpot, Jeroen;
- Mital, Seema
Publication type:
Article
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.
Published in:
JAMA Network Open, 2021, v. 4, n. 5, p. e2110446, doi. 10.1001/jamanetworkopen.2021.10446
By:
- Cohn, Iris;
- Manshaei, Roozbeh;
- Liston, Eriskay;
- Okello, John B. A.;
- Khan, Reem;
- Curtis, Meredith R.;
- Krupski, Abby J.;
- Jobling, Rebekah K.;
- Kalbfleisch, Kelsey;
- Paton, Tara A.;
- Reuter, Miriam S.;
- Hayeems, Robin Z.;
- Verstegen, Ruud H. J.;
- Goldman, Aaron;
- Kim, Raymond H.;
- Ito, Shinya
Publication type:
Article
Monozygotic twins with variable expression of Van der Woude Syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2008, doi. 10.1002/ajmg.a.34022
By:
- Jobling, Rebekah;
- Ferrier, Raechel A.;
- McLeod, Ross;
- Petrin, Aline Lourenco;
- Murray, Jeffrey C.;
- Thomas, Mary Ann
Publication type:
Article
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations.
Published in:
Current Rheumatology Reports, 2014, v. 16, n. 1, p. 1, doi. 10.1007/s11926-013-0394-3
By:
- Jobling, Rebekah;
- D'Souza, Rohan;
- Baker, Naomi;
- Lara-Corrales, Irene;
- Mendoza-Londono, Roberto;
- Dupuis, Lucie;
- Savarirayan, Ravi;
- Ala-Kokko, L.;
- Kannu, Peter
Publication type:
Article
Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations.
Published in:
Congenital Heart Disease, 2023, v. 18, n. 2, p. 213, doi. 10.32604/chd.2023.023042
By:
- Somerville, Cherith;
- Kalbfleisch, Kelsey;
- Manshaei, Roozbeh;
- Qiliang Ding;
- Okello, John B. A.;
- Silver, Rachel;
- Chitayat, David;
- Thakur, Varsha;
- Villemain, Olivier;
- Jobling, Rebekah
Publication type:
Article

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