Search the collection

42 results for Ji,+Weizhen

Sort by:

Sort by

Limit results to:

20 per page

42 results for Ji,+Weizhen

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 1
ArticlesPeer ReviewedFull Text
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation
Author / Creator:Tyler, Paul M. ; Bucklin, Molly L. ; Zhao, Mengting ; Maher, Timothy J. ; Rice, Andrew J. ; Ji, Weizhen ; Warner, Neil ; Pan, Jie ; Morotti, Raffaella ; McCarthy, Paul ; Griffiths, Anne ; van Rossum, Annemarie M. C. ; Hollink, Iris H.I.M. ; Dalm, Virgil A.S.H. ; Catanzaro, Jason ; Lakhani, Saquib A. ; Muise, Aleixo M. ; Lucas, Carrie L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2021-09, Vol.22 (9), p.1118-1126
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 2
ArticlesPeer ReviewedFull Text
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Author / Creator:Ji, Weizhen ; Ferdman, Dina ; Copel, Joshua ; Scheinost, Dustin ; Shabanova, Veronika ; Brueckner, Martina ; Khokha, Mustafa K. ; Ment, Laura R.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-04, Vol.10 (1), p.7046-7046, Article 7046
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 3
ArticlesPeer ReviewedFull Text
K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Author / Creator:Choi, Murim ; Scholl, Ute I ; Yue, Peng ; Björklund, Peyman ; Zhao, Bixiao ; Nelson-Williams, Carol ; Ji, Weizhen ; Cho, Yoonsang ; Patel, Aniruddh ; Men, Clara J ; Lolis, Elias ; Wisgerhof, Max V ; Geller, David S ; Mane, Shrikant ; Hellman, Per ; Westin, Gunnar ; Åkerström, Göran ; Wang, Wenhui ; Carling, Tobias ; Lifton, Richard P
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2011-02, Vol.331 (6018), p.768-772
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 4
ArticlesPeer ReviewedFull Text
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Author / Creator:Choi, Murim ; Scholl, Ute I ; Ji, Weizhen ; Liu, Tiewen ; Tikhonova, Irina R ; Zumbo, Paul ; Nayir, Ahmet ; Bakkaloğlu, Aysin ; Özen, Seza ; Sanjad, Sami ; Nelson-Williams, Carol ; Farhi, Anita ; Mane, Shrikant ; Lifton, Richard P
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-11, Vol.106 (45), p.19096-19101
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 5
ArticlesPeer ReviewedFull Text
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Author / Creator:Ji, Weizhen ; Foo, Jia Nee ; O'Roak, Brian J ; Zhao, Hongyu ; Larson, Martin G ; Simon, David B ; Newton-Cheh, Christopher ; State, Matthew W ; Levy, Daniel ; Lifton, Richard P
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-05, Vol.40 (5), p.592-599
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 6
ArticlesPeer ReviewedFull Text
Efficient Removal of Cationic Dye by Biomimetic Amorphous Calcium Carbonate: Behavior and Mechanisms
Author / Creator:Liu, Renlu ; Ji, Weizhen ; Min, Jie ; Wen, Pengjun ; Li, Yan ; Hu, Jialu ; Yin, Li ; He, Genhe
Publisher:Switzerland: MDPI AG
Journal title:Molecules (Basel, Switzerland), 2024-11, Vol.29 (22), p.5426
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 7
ArticlesPeer ReviewedFull Text
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Author / Creator:Brodsky, Nina N. ; Boyarchuk, Oksana ; Kovalchuk, Tetyana ; Hariyan, Tetyana ; Rice, Andrew ; Ji, Weizhen ; Khokha, Mustafa ; Lakhani, Saquib ; Lucas, Carrie L.
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2020-10, Vol.65 (10), p.911-915
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 8
ArticlesPeer ReviewedFull Text
Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Author / Creator:Azab, Bilal ; Aburizeg, Dunia ; Shaaban, Sherin T. ; Ji, Weizhen ; Mustafa, Lina ; Isbeih, Nooredeen Jamal ; Al-Akily, Amal Saleh ; Mohammad, Hashim ; Jeffries, Lauren ; Khokha, Mustafa ; Lakhani, Saquib A. ; Al-Ammouri, Iyad
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-07, Vol.14 (1), p.15141-14, Article 15141
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 9
ArticlesPeer ReviewedFull Text
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Author / Creator:Sega, Annalisa G ; Mis, Emily K ; Lindstrom, Kristin ; Mercimek-Andrews, Saadet ; Ji, Weizhen ; Cho, Megan T ; Juusola, Jane ; Konstantino, Monica ; Jeffries, Lauren ; Khokha, Mustafa K ; Lakhani, Saquib Ali
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-02, Vol.56 (2), p.113-122
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 10
ArticlesPeer ReviewedFull Text
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
Author / Creator:Brooks, Joel P. ; Rice, Andrew J. ; Ji, Weizhen ; Lanahan, Stephen M. ; Konstantino, Monica ; Dara, Jasmeen ; Hershfield, Michael S. ; Cruickshank, Amy ; Dokmeci, Elif ; Lakhani, Saquib ; Lucas, Carrie L.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-04, Vol.41 (3), p.680-683
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 11
ArticlesPeer ReviewedFull Text
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma
Author / Creator:Peng, Gang ; Chai, Hongyan ; Ji, Weizhen ; Lu, Yufei ; Wu, Shengming ; Zhao, Hongyu ; Li, Peining ; Hu, Qiping
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2021-06, Vol.14 (1), p.150-9, Article 150
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 12
ArticlesPeer ReviewedFull Text
Functional testing for variant prioritization in a family with long QT syndrome
Author / Creator:Najari Beidokhti, Maliheh ; Bertalovitz, Alexander C. ; Ji, Weizhen ; McCormack, Jorge ; Jeffries, Lauren ; Sempou, Emily ; Khokha, Mustafa K. ; McDonald, Thomas V. ; Lakhani, Saquib A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Molecular genetics and genomics : MGG, 2021-07, Vol.296 (4), p.823-836
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 13
ArticlesPeer ReviewedFull Text
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice
Author / Creator:Jones, Julie M. ; Datta, Pinaki ; Srinivasula, Srinivasa M. ; Ji, Weizhen ; Gupta, Sanjeev ; Zhang, ZhiJia ; Davies, Erika ; Hajnóczky, György ; Saunders, Thomas L. ; Van Keuren, Margaret L. ; Fernandes-Alnemri, Teresa ; Meisler, Miriam H. ; Alnemri, Emad S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2003-10, Vol.425 (6959), p.721-727
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 14
ArticlesPeer ReviewedFull Text
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Author / Creator:Sandokji, Ibrahim ; Marquez, Jonathan ; Ji, Weizhen ; Zerillo, Cynthia A. ; Konstantino, Monica ; Lakhani, Saquib A. ; Khokha, Mustafa K. ; Warejko, Jillian K.
Publisher:England: BioMed Central Ltd
Journal title:BMC nephrology, 2019-07, Vol.20 (1), p.271-271, Article 271
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 15
ArticlesPeer ReviewedFull Text
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Author / Creator:Stuart, Bridget D ; Choi, Jungmin ; Zaidi, Samir ; Xing, Chao ; Holohan, Brody ; Chen, Rui ; Choi, Mihwa ; Dharwadkar, Pooja ; Torres, Fernando ; Girod, Carlos E ; Weissler, Jonathan ; Fitzgerald, John ; Kershaw, Corey ; Klesney-Tait, Julia ; Mageto, Yolanda ; Shay, Jerry W ; Ji, Weizhen ; Bilguvar, Kaya ; Mane, Shrikant ; Lifton, Richard P ; Garcia, Christine Kim
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-05, Vol.47 (5), p.512-517
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 16
ArticlesPeer ReviewedFull Text
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Author / Creator:Lemaire, Mathieu ; Frémeaux-Bacchi, Véronique ; Schaefer, Franz ; Choi, Murim ; Tang, Wai Ho ; Le Quintrec, Moglie ; Fakhouri, Fadi ; Taque, Sophie ; Nobili, François ; Martinez, Frank ; Ji, Weizhen ; Overton, John D ; Mane, Shrikant M ; Nürnberg, Gudrun ; Altmüller, Janine ; Thiele, Holger ; Morin, Denis ; Deschenes, Georges ; Baudouin, Véronique ; Llanas, Brigitte ; Collard, Laure ; Majid, Mohammed A ; Simkova, Eva ; Nürnberg, Peter ; Rioux-Leclerc, Nathalie ; Moeckel, Gilbert W ; Gubler, Marie Claire ; Hwa, John ; Loirat, Chantal ; Lifton, Richard P
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-05, Vol.45 (5), p.531-536
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 17
ArticlesPeer ReviewedFull Text
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Author / Creator:Griesi-Oliveira, K ; Acab, A ; Gupta, A R ; Sunaga, D Y ; Chailangkarn, T ; Nicol, X ; Nunez, Y ; Walker, M F ; Murdoch, J D ; Sanders, S J ; Fernandez, T V ; Ji, W ; Lifton, R P ; Vadasz, E ; Dietrich, A ; Pradhan, D ; Song, H ; Ming, G-l ; Gu, X ; Haddad, G ; Marchetto, M C N ; Spitzer, N ; Passos-Bueno, M R ; State, M W ; Muotri, A R
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2015-11, Vol.20 (11), p.1350-1365
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 18
ArticlesPeer ReviewedFull Text
ISMC5/I Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
Author / Creator:O’Brien, Matthew P ; Pryzhkova, Marina V ; Lake, Evelyn M. R ; Mandino, Francesca ; Shen, Xilin ; Karnik, Ruchika ; Atkins, Alisa ; Xu, Michelle J ; Ji, Weizhen ; Konstantino, Monica ; Brueckner, Ma ; Ment, Laura R ; Khokha, Mustafa K ; Jordan, Philip W
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-12, Vol.25 (1)
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 19
ArticlesPeer ReviewedFull Text
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Author / Creator:Marquez, Jonathan ; Mann, Nina ; Arana, Kathya ; Deniz, Engin ; Ji, Weizhen ; Konstantino, Monica ; Mis, Emily K ; Deshpande, Charu ; Jeffries, Lauren ; McGlynn, Julie ; Hugo, Hannah ; Widmeier, Eugen ; Konrad, Martin ; Tasic, Velibor ; Morotti, Raffaella ; Baptista, Julia ; Ellard, Sian ; Lakhani, Saquib Ali ; Hildebrandt, Friedhelm ; Khokha, Mustafa K
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-07, Vol.58 (7), p.453-464
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 20
ArticlesPeer ReviewedFull Text
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Author / Creator:Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A. ; Sheng, Delicia Z. ; Iyer, Kavitha ; Portelli, Stephanie ; Nguyen, Vivien ; Gereis, Jessica M. ; Alankarage, Dimuthu ; Chitayat, David ; Chong, Karen ; Wentzensen, Ingrid M. ; Vincent-Delormé, Catherine ; Lermine, Alban ; Burkitt-Wright, Emma ; Ji, Weizhen ; Jeffries, Lauren ; Pais, Lynn S. ; Tan, Tiong Y. ; Pitt, James ; Wise, Cheryl A. ; Wright, Helen ; Andrews, Israel D. ; Pruniski, Brianna ; Grebe, Theresa A. ; Corsten-Janssen, Nicole ; Bouman, Katelijne ; Poulton, Cathryn ; Prakash, Supraja ; Keren, Boris ; Brown, Natasha J. ; Hunter, Matthew F. ; Heath, Oliver ; Lakhani, Saquib A. ; McDermott, John H. ; Ascher, David B. ; Chapman, Gavin ; Bozon, Kayleigh ; Dunwoodie, Sally L.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2024-02, Vol.134 (4), p.1-14
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 42 results

Export record to excel

Export this record

Export record to excel

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation

Export this record

Export record to excel

De novo damaging variants associated with congenital heart diseases contribute to the connectome

Export this record

Export record to excel

K⁺ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

Export this record

Export record to excel

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Export this record

Export record to excel

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Export this record

Export record to excel

Efficient Removal of Cationic Dye by Biomimetic Amorphous Calcium Carbonate: Behavior and Mechanisms

Export this record

Export record to excel

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

Export this record

Export record to excel

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan

Export this record

Export record to excel

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Export this record

Export record to excel

Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

Export this record

Export record to excel

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma

Export this record

Export record to excel

Functional testing for variant prioritization in a family with long QT syndrome

Export this record

Export record to excel

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

Export this record

Export record to excel

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

Export this record

Export record to excel

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

Export this record

Export record to excel

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Export this record

Export record to excel

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Export this record

Export record to excel

ISMC5/I Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

Export this record

Export record to excel

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Export this record

Export record to excel

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Refine your search