Search the collection

80 results for Schwartzentruber,+Jeremy

Sort by:

Sort by

Limit results to:

20 per page

80 results for Schwartzentruber,+Jeremy

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Author / Creator:Martin, Emmanuel ; Palmic, Noé ; Sanquer, Sylvia ; Lenoir, Christelle ; Hauck, Fabian ; Mongellaz, Cédric ; Fabrega, Sylvie ; Nitschké, Patrick ; Esposti, Mauro Degli ; Schwartzentruber, Jeremy ; Taylor, Naomi ; Majewski, Jacek ; Jabado, Nada ; Wynn, Robert F. ; Picard, Capucine ; Fischer, Alain ; Arkwright, Peter D. ; Latour, Sylvain
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2014-06, Vol.510 (7504), p.288-292
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Author / Creator:Huang, Lijia ; Chardon, Jodi Warman ; Carter, Melissa T ; Friend, Kathie L ; Dudding, Tracy E ; Schwartzentruber, Jeremy ; Zou, Ruobing ; Schofield, Peter W ; Douglas, Stuart ; Bulman, Dennis E ; Boycott, Kym M
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.67-67, Article 67
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Author / Creator:Smith, Amanda C ; Mears, Alan J ; Bunker, Ryan ; Ahmed, Afsana ; MacKenzie, Malcolm ; Schwartzentruber, Jeremy A ; Beaulieu, Chandree L ; Ferretti, Emanuela ; Majewski, Jacek ; Bulman, Dennis E ; Celik, Fatma Cakmak ; Boycott, Kym M ; Graham, Gail E
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-07, Vol.51 (7), p.470-474
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection
Author / Creator:Yuki, Kyoko E. ; Marei, Hadir ; Fiskin, Evgenij ; Eva, Megan M. ; Gopal, Angelica A. ; Schwartzentruber, Jeremy A. ; Majewski, Jacek ; Cellier, Mathieu ; Mandl, Judith N. ; Vidal, Silvia M. ; Malo, Danielle ; Dikic, Ivan
Publisher:London: Nature Publishing Group UK
Journal title:Nature microbiology, 2019-09, Vol.4 (9), p.1516-1531
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Author / Creator:Mirzaa, Ghayda M ; Parry, David A ; Fry, Andrew E ; Giamanco, Kristin A ; Schwartzentruber, Jeremy ; Vanstone, Megan ; Logan, Clare V ; Roberts, Nicola ; Johnson, Colin A ; Singh, Shawn ; Kholmanskikh, Stanislav S ; Adams, Carissa ; Hodge, Rebecca D ; Hevner, Robert F ; Bonthron, David T ; Braun, Kees P J ; Faivre, Laurence ; Rivière, Jean-Baptiste ; St-Onge, Judith ; Gripp, Karen W ; Mancini, Grazia M S ; Pang, Ki ; Sweeney, Elizabeth ; van Esch, Hilde ; Verbeek, Nienke ; Wieczorek, Dagmar ; Steinraths, Michelle ; Majewski, Jacek ; Boycott, Kym M ; Pilz, Daniela T ; Ross, M Elizabeth ; Dobyns, William B ; Sheridan, Eamonn G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-05, Vol.46 (5), p.510-515
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Author / Creator:Koenekoop, Robert K ; Wang, Hui ; Majewski, Jacek ; Wang, Xia ; Lopez, Irma ; Ren, Huanan ; Chen, Yiyun ; Li, Yumei ; Fishman, Gerald A ; Genead, Mohammed ; Schwartzentruber, Jeremy ; Solanki, Naimesh ; Traboulsi, Elias I ; Cheng, Jingliang ; Logan, Clare V ; McKibbin, Martin ; Hayward, Bruce E ; Parry, David A ; Johnson, Colin A ; Nageeb, Mohammed ; Poulter, James A ; Mohamed, Moin D ; Jafri, Hussain ; Rashid, Yasmin ; Taylor, Graham R ; Keser, Vafa ; Mardon, Graeme ; Xu, Huidan ; Inglehearn, Chris F ; Fu, Qing ; Toomes, Carmel ; Chen, Rui
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-09, Vol.44 (9), p.1035-1039
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9
Author / Creator:Smith, Amanda C. ; Ito, Yoko ; Ahmed, Afsana ; Schwartzentruber, Jeremy A. ; Beaulieu, Chandree L. ; Aberg, Erika ; Majewski, Jacek ; Bulman, Dennis E. ; Horsting-Wethly, Karina ; Koning, Diana Vermunt-de ; Rodenburg, Richard J. ; Boycott, Kym M. ; Penney, Lynette S.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
Author / Creator:Tachmazidou, Ioanna ; Dedoussis, George ; Southam, Lorraine ; Farmaki, Aliki-Eleni ; Ritchie, Graham R. S. ; Xifara, Dionysia K. ; Matchan, Angela ; Hatzikotoulas, Konstantinos ; Rayner, Nigel W. ; Chen, Yuan ; Pollin, Toni I. ; O’Connell, Jeffrey R. ; Yerges-Armstrong, Laura M. ; Kiagiadaki, Chrysoula ; Panoutsopoulou, Kalliope ; Schwartzentruber, Jeremy ; Moutsianas, Loukas ; Tsafantakis, Emmanouil ; Tyler-Smith, Chris ; McVean, Gil ; Xue, Yali ; Zeggini, Eleftheria
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2013-12, Vol.4 (1), p.2872-2872, Article 2872
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Author / Creator:Huang, Lijia ; Warman-Chardon, Jodi ; Carter, Melissa T ; Friend, Kathie L ; Dudding, Tracy E ; Schwartzentruber, Jeremy ; Zou, Ruobing ; Schofield, Peter W ; Douglas, Stuart ; Bulman, Dennis E ; Boycott, Kym M
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.143-143, Article 143
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
Mutations in TMEM231 cause Joubert syndrome in French Canadians
Author / Creator:Srour, Myriam ; Hamdan, Fadi F ; Schwartzentruber, Jeremy A ; Patry, Lysanne ; Ospina, Luis H ; Shevell, Michael I ; Désilets, Valérie ; Dobrzeniecka, Sylvia ; Mathonnet, Géraldine ; Lemyre, Emmanuelle ; Massicotte, Christine ; Labuda, Damian ; Amrom, Dina ; Andermann, Eva ; Sébire, Guillaume ; Maranda, Bruno ; Consortium, FORGE Canada ; Rouleau, Guy A ; Majewski, Jacek ; Michaud, Jacques L
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-10, Vol.49 (10), p.636-641
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Neuropathologic Features of Pontocerebellar Hypoplasia Type 6
Author / Creator:Joseph, Jeffrey T. ; Innes, A. Micheil ; Smith, Amanda C. ; Vanstone, Megan R. ; Schwartzentruber, Jeremy A. ; Bulman, Dennis E. ; Majewski, Jacek ; Daza, Ray A. ; Hevner, Robert F. ; Michaud, Jean ; Boycott, Kym M.
Publisher:England: by American Association of Neuropathologists, Inc
Journal title:Journal of neuropathology and experimental neurology, 2014-11, Vol.73 (11), p.1009-1025
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity
Author / Creator:West, Clare E. ; Karim, Mohd ; Falaguera, Maria J. ; Speidel, Leo ; Green, Charlotte J. ; Logie, Lisa ; Schwartzentruber, Jeremy ; Ochoa, David ; Lord, Janet M. ; Ferguson, Michael A. J. ; Bountra, Chas ; Wilkinson, Graeme F. ; Vaughan, Beverley ; Leach, Andrew R. ; Dunham, Ian ; Marsden, Brian D.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific data, 2023-09, Vol.10 (1), p.655-13, Article 655
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
Author / Creator:Watkins, David ; Schwartzentruber, Jeremy A ; Ganesh, Jaya ; Orange, Jordan S ; Kaplan, Bernard S ; Nunez, Laura Dempsey ; Majewski, Jacek ; Rosenblatt, David S
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-09, Vol.48 (9), p.590-592
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5
Author / Creator:Hatzikotoulas, Konstantinos ; Roposch, Andreas ; Shah, Karan M. ; Clark, Matthew J. ; Bratherton, Selina ; Limbani, Vasanti ; Steinberg, Julia ; Zengini, Eleni ; Warsame, Kaltuun ; Ratnayake, Madhushika ; Tselepi, Maria ; Schwartzentruber, Jeremy ; Loughlin, John ; Eastwood, Deborah M. ; Zeggini, Eleftheria ; Wilkinson, J. Mark
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2018-01, Vol.1 (1), p.56-56, Article 56
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesPeer ReviewedFull Text
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
Author / Creator:McMillan, Hugh J ; Worthylake, Thea ; Schwartzentruber, Jeremy ; Gottlieb, Chloe C ; Lawrence, Sarah E ; Mackenzie, Alex ; Beaulieu, Chandree L ; Mooyer, Petra A W ; Wanders, Ronald J A ; Majewski, Jacek ; Bulman, Dennis E ; Geraghty, Michael T ; Ferdinandusse, Sacha ; Boycott, Kym M
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.90-90, Article 90
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9
Author / Creator:Smith, Amanda C ; Ito, Yoko ; Ahmed, Afsana ; Schwartzentruber, Jeremy A ; Beaulieu, Chandree L ; Aberg, Erika ; Majewski, Jacek ; Bulman, Dennis E ; Horsting-Wethly, Karina ; Koning, Diana Vermunt-de ; Rodenburg, Richard J ; Boycott, Kym M ; Penney, Lynette S
Publisher:United States
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.719-729
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
Author / Creator:McMillan, Hugh J ; Schwartzentruber, Jeremy ; Smith, Amanda ; Lee, Suzie ; Chakraborty, Pranesh ; Bulman, Dennis E ; Beaulieu, Chandree L ; Majewski, Jacek ; Boycott, Kym M ; Geraghty, Michael T
Publisher:England: BioMed Central
Journal title:BMC genetics, 2014-03, Vol.15 (1), p.36-36, Article 36
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1
Author / Creator:Caignard, Grégory ; Leiva-Torres, Gabriel A ; Leney-Greene, Michael ; Charbonneau, Benoit ; Dumaine, Anne ; Fodil-Cornu, Nassima ; Pyzik, Michal ; Cingolani, Pablo ; Schwartzentruber, Jeremy ; Dupaul-Chicoine, Jeremy ; Guo, Huaijian ; Saleh, Maya ; Veillette, André ; Lathrop, Marc ; Blanchette, Mathieu ; Majewski, Jacek ; Pearson, Angela ; Vidal, Silvia M
Publisher:United States: Public Library of Science
Journal title:PLoS pathogens, 2013-09, Vol.9 (9), p.e1003637
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 39
ArticlesPeer ReviewedFull Text
Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membrane
Author / Creator:Arnspang, Eva C ; Schwartzentruber, Jeremy ; Clausen, Mathias P ; Wiseman, Paul W ; Lagerholm, B Christoffer
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-12, Vol.8 (12), p.e78096
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 40
ArticlesPeer ReviewedFull Text
What can exome sequencing do for you?
Author / Creator:Majewski, Jacek ; Schwartzentruber, Jeremy ; Lalonde, Emilie ; Montpetit, Alexandre ; Jabado, Nada
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-09, Vol.48 (9), p.580-589
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 80 results

Search the collection

Export record to excel

Export this record

Export record to excel

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

Export this record

Export record to excel

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Export this record

Export record to excel

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Export this record

Export record to excel

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

Export this record

Export record to excel

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Export this record

Export record to excel

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Export this record

Export record to excel

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

Export this record

Export record to excel

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

Export this record

Export record to excel

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Export this record

Export record to excel

Mutations in TMEM231 cause Joubert syndrome in French Canadians

Export this record

Export record to excel

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

Export this record

Export record to excel

Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity

Export this record

Export record to excel

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

Export this record

Export record to excel

Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5

Export this record

Export record to excel

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Export this record

Export record to excel

A family segregating lethal neonatal coenzyme Q 10 deficiency caused by mutations in COQ9

Export this record

Export record to excel

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Export this record

Export record to excel

Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1

Export this record

Export record to excel

Bridging the gap between single molecule and ensemble methods for measuring lateral dynamics in the plasma membrane

Export this record

Export record to excel

What can exome sequencing do for you?

Refine your search