S. Ashraf

发表

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.

S. Mane, R. Lifton, V. Tasic, 2018, Clinical journal of the American Society of Nephrology : CJASN.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.

Thomas M. Kitzler, S. Mane, R. Lifton, 2019, Journal of the American Society of Nephrology : JASN.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

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

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.

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout.

F. Hildebrandt, S. Ashraf, Caroline M. Kolvenbach, 2019, Kidney international.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.

Kristen M. Laricchia, D. MacArthur, H. Rehm, 2018, Journal of the American Society of Nephrology : JASN.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

S. Engelmann, R. Lifton, F. Hildebrandt, 2015, Journal of the American Society of Nephrology : JASN.

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

Margaret Y. Nettleton, S. Levy, R. Lifton, 2015, The Journal of clinical investigation.

Leveraging Health Informatics and Parental Empowerment: Perspectives from Parents and Caregivers of Medically Complex Children

S. Ashraf, 2020 .

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

F. Hildebrandt, M. Attanasio, Weibin Zhou, 2008, Human mutation.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

S. Levy, T. Hurd, David S. Williams, 2014, American journal of human genetics.

Effect of walnut (Juglans Regia) consumption on hyperlipidemic adults

S. Ashraf, Zaheer Ahmed, Asma Arfeen, 2020 .

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

F. Hildebrandt, S. Heeringa, G. Chernin, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

F. Hildebrandt, S. Ashraf, V. Vega-Warner, 2014, Clinical journal of the American Society of Nephrology : CJASN.

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Annapurna, Wierenga, E. Roeder, 2018 .

Mutation Analysis of NPHS1 in a Worldwide Cohort of Congenital Nephrotic Syndrome Patients

F. Hildebrandt, S. Ashraf, V. Vega-Warner, 2012, Nephron Clinical Practice.

Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series

K. Mandal, S. Ashraf, Sushmita Banerjee, 2019, Nephron.

Tolterodine tartrate loaded biodegradable and pH-responsive amphiphilic block copolymer (PF127) hydrogels: synthesis, characterization, and acute toxicity evaluation

S. Ashraf, Mahmood Ahmad, M. Minhas, 2022, Polymer-Plastics Technology and Materials.

(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 .

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.

V. Tasic, F. Hildebrandt, B. Hoskins, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Levels of Serum Copper, Iron and Zinc along with Serum Total Proteins and Fractions in Diseased Malnourished Children of 4-12 Years of Age

S. Ashraf, S. Hameed, N. Abbas, 2001 .

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

K. Schwarz, T. Giese, R. Lifton, 2017, The Journal of clinical investigation.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Peter Nürnberg, Thomas Gudermann, Dominik Seelow, 2006, Nature Genetics.

First record of Lactocollybia variicysti s from Asia

S. Ashraf, A. Khalid, Hira Bashir, 2022, Mycotaxon.

FAT1 mutations cause a glomerulotubular nephropathy

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

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

R. Lifton, W. Antonin, F. Hildebrandt, 2016, Nature Genetics.

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

F. Hildebrandt, S. Ashraf, Tobias Hermle, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic testing in steroid-resistant nephrotic syndrome: when and how?

F. Hildebrandt, S. Ashraf, Weizhen Tan, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

S. Levy, T. Hurd, O. Gribouval, 2013, The Journal of clinical investigation.

Identification of BRAF as a new interactor of PLCε1, the protein mutated in nephrotic syndrome type 3

Bethan E. Hoskins, H. Chaib, F. Hildebrandt, 2008 .

Implication of Prophetic Variables and Their Impulsive Interplay in CA Prostate Patients Experiencing Osteo-Metastasis.

S. Ashraf, A. Malik, Muhammad Ashraf, 2020, Anti-cancer agents in medicinal chemistry.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

S. Mane, D. Lowy, K. Nakayama, 2018, Nature Communications.

Angiotensin converting enzyme genotype affects development and course of sarcoidosis in Asian Indians.

S. Ashraf, S. Sharma, H. Mishra, 2007, Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG.

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

S. Levy, N. Katsanis, T. Hurd, 2013, Kidney international.

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

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

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

S. Mane, R. Lifton, F. Hildebrandt, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

F. Hildebrandt, S. Ashraf, M. Ferguson, 2018, Pediatric Nephrology.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Kristen M. Laricchia, Thomas M. Kitzler, Richard S. Lee, 2018, Journal of the American Society of Nephrology : JASN.

Mutations in WDR4 as a new cause of Galloway–Mowat syndrome

Kristen M. Laricchia, M. Lek, A. Sinha, 2018, American journal of medical genetics. Part A.

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

H. Chaib, F. Hildebrandt, B. Hoskins, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Thomas M. Kitzler, S. Mane, F. Alkuraya, 2018, The Journal of clinical investigation.

Advillin acts upstream of phospholipase C ε1 in steroid-resistant nephrotic syndrome

S. Mane, R. Lifton, A. Nayır, 2017, The Journal of clinical investigation.

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

F. Hildebrandt, G. Chernin, S. Ashraf, 2011, Journal of the American Society of Nephrology : JASN.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Jeremy F. P. Ullmann, Sebastian A. Leidel, E. Roeder, 2017, Nature Genetics.

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.

A. Bakkaloğlu, C. Mohan, E. Wakeland, 2013, Journal of the American Society of Nephrology : JASN.

conceptual paper on Lahore-Pakistan pregnancy cohort study

S. Ashraf, S. K. Leng, H. Mohamed, 2022, International Journal of Health Sciences.