Agnieszka Bierzynska

发表

A role for OCRL in glomerular function and disease

M. Saleem, R. Lennon, M. Lowe, 2019, Pediatric Nephrology.

Response to First Course of Intensified Immunosuppression in Genetically-Stratified Steroid Resistant Nephrotic Syndrome.

M. Saleem, G. Welsh, A. Koziell, 2020, Clinical journal of the American Society of Nephrology : CJASN.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

S. Levy, M. Simpson, F. Hildebrandt, 2015, American journal of human genetics.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.

Maggie Williams, Agnieszka Bierzynska, Elizabeth Colby, 2017, Journal of the American Society of Nephrology : JASN.

A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome

M. Saleem, Agnieszka Bierzynska, Anna E. Mason, 2021, Pediatric Nephrology.

Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. Kidney International, 96(3), 642-

V. D’Agati, C. Sawyers, J. Wong, 2019 .

Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.

V. D’Agati, C. Sawyers, J. Wong, 2019, Kidney international.

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.

M. Ognjanović, R. Gilbert, M. Saleem, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

M. Zacchia, P. Byers, M. Gregory, 2021, European Journal of Human Genetics.

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Graham M Lord, M. Simpson, M. Ognjanović, 2017, Kidney international.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

G. Mollet, O. Gribouval, C. Antignac, 2019, American journal of human genetics.

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

C. Penkett, K. Megy, M. Saleem, 2022, Pediatric Nephrology.

Podocyte Bioenergetics in the Development of Diabetic Nephropathy: The Role of Mitochondria

Irena Audzeyenka, Agnieszka Bierzynska, A. Lay, 2021, Endocrinology.

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy

M. Marlais, M. Saleem, S. Abbs, 2014, BMC Nephrology.

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

Michael J. Randles, A. Woolf, B. Kerr, 2015, Pediatric Nephrology.

Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome

Carmen Bugarin Diz, D. Gale, M. Saleem, 2022, Pediatric Nephrology.

(2019). Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2. Kidney (3), 642-655.

V. D’Agati, C. Sawyers, F. Hildebrandt, 2019 .

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

L. Metherell, L. Guasti, H. Storr, 2017, The Journal of clinical investigation.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

FAT1 mutations cause a glomerulotubular nephropathy

T. Chan, R. Lifton, D. Milford, 2016, Nature Communications.

Open Peer Review Recent Advances in Understanding and Treating Nephrotic Syndrome [version 1; Referees: 2 Approved]

M. Saleem, Agnieszka Bierzynska, Bierzynska A, 2022 .

Genes and Podocytes – New Insights into Mechanisms of Podocytopathy

A. Koziell, Katrina Soderquest, Agnieszka Bierzynska, 2014, Front. Endocrinol..

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

Bierzynska, A., & Saleem, M. A. (2018). Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current

M. Saleem, Agnieszka Bierzynska, A. Bierzynska, 2018 .

Deriving and understanding the risk of post-transplant recurrence of nephrotic syndrome in the light of current molecular and genetic advances

M. Saleem, Agnieszka Bierzynska, A. Bierzynska, 2017, Pediatric Nephrology.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Chris Buxton, Maggie Williams, Agnieszka Bierzynska, 2017, Journal of Medical Genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (3),

L. Metherell, L. Guasti, H. Storr, 2017 .

SGPL 1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome 1

L. Metherell, L. Guasti, H. Storr, 2016 .

Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence.

C. Antignac, M. Saleem, R. Coward, 2014, Journal of the American Society of Nephrology : JASN.

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

G. Cavalleri, F. Hildebrandt, V. Vega-Warner, 2021, Journal of the American Society of Nephrology : JASN.

Guidelines for Genetic Testing and Management of Alport Syndrome.

M. Zacchia, P. Byers, M. Gregory, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Genetic architecture of paediatric renal diseases in China and the need for data sharing

M. Saleem, Agnieszka Bierzynska, 2020, Translational pediatrics.

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .

Multivariate canonical correlation analysis identifies additional genetic variants for chronic kidney disease

Agnieszka Bierzynska, Elizabeth Colby, O. Radresa, 2024, NPJ systems biology and applications.