D. Schapiro

发表

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.

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.

Treatment with 2,4-Dihydroxybenzoic Acid Prevents FSGS Progression and Renal Fibrosis in Podocyte-Specific Coq6 Knockout Mice.

F. Hildebrandt, M. Schueler, C. Clarke, 2019, Journal of the American Society of Nephrology : JASN.

ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment

Min Goo Lee, F. Hildebrandt, J. Ryu, 2019, bioRxiv.

[Enucleation with on-the-table evisceration. Is it a good technique?].

D. Schapiro, M. Duong, S. Morax, 2001, Journal francais d'ophtalmologie.

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Shrikant Mane, R. Lifton, Z. Gucev, 2018, Kidney international.

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.

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.

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

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

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.

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.

[Excessive tearing in infants and young children. Questions? Answers].

D. Schapiro, B. Fayet, J. Bernard, 2000, Journal francais d'ophtalmologie.

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model

Jeremy F. P. Ullmann, J. Ullmann, F. Hildebrandt, 2018, PloS one.

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

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

Real-World Patterns of Basal Insulin Use with Other Diabetes Medications Among People with Type 2 Diabetes Between 2014 and 2020

D. Schapiro, M. Perez-Nieves, R. Juneja, 2023, Diabetes Therapy.

952-P: The Relationship between Weight Loss and HbA1c in People with Type 2 Diabetes

J. Meyers, K. Houghton, S. Shinde, 2022, Diabetes.

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.

Min Goo Lee, F. Hildebrandt, J. Ryu, 2020, Journal of the American Society of Nephrology : JASN.

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

R. Lifton, F. Hildebrandt, M. Schueler, 2019, American journal of human genetics.

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.