Ghaleb H. Daouk

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Abstract

Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Am J Physiol Renal Physiol. 2020 12 01; 319(6):F988-F999. View Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease. Abstract

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Abstract

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Abstract

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Abstract

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. View Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. Abstract

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep. 2018 05 22; 23(8):2495-2508. View A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Abstract

Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ˜43% of 35 Families With Midaortic Syndrome. Hypertension. 2018 04; 71(4):691-699. View Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ˜43% of 35 Families With Midaortic Syndrome. Abstract

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Abstract

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Abstract

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatr Nephrol. 2018 02; 33(2):305-314. View Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Abstract

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol. 2017 Jan; 28(1):69-75. View Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. Abstract

Recent advances in the pathogenesis of hypertension in children. J Med Liban. 2010 Jul-Sep; 58(3):137-41. View Recent advances in the pathogenesis of hypertension in children. Abstract

Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature. Pediatr Nephrol. 2006 Aug; 21(8):1189-93. View Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature. Abstract

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 11-2004. A boy with rash, edema, and hypertension. N Engl J Med. 2004 Apr 08; 350(15):1550-9. View Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 11-2004. A boy with rash, edema, and hypertension. Abstract

Postnatal transient renal insufficiency in the feto-fetal transfusion syndrome. Pediatr Nephrol. 1999 Feb; 13(2):117-20. View Postnatal transient renal insufficiency in the feto-fetal transfusion syndrome. Abstract

Inhibition of proteinase 3 by ANCA and its correlation with disease activity in Wegener's granulomatosis. Kidney Int. 1995 Jun; 47(6):1528-36. View Inhibition of proteinase 3 by ANCA and its correlation with disease activity in Wegener's granulomatosis. Abstract

Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene: identification of a hot spot for recombination. Genomics. 1991 Apr; 9(4):614-22. View Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene: identification of a hot spot for recombination. Abstract

Induction of a cellular enzyme for energy metabolism by transforming domains of adenovirus E1a. Mol Cell Biol. 1990 Apr; 10(4):1476-83. View Induction of a cellular enzyme for energy metabolism by transforming domains of adenovirus E1a. Abstract

Isolation of a functional human gene for brain creatine kinase. J Biol Chem. 1988 Feb 15; 263(5):2442-6. View Isolation of a functional human gene for brain creatine kinase. Abstract

Regulation of coenzyme utilization by the dual nucleotide-specific glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroids. Arch Biochem Biophys. 1979 Dec; 198(2):406-13. View Regulation of coenzyme utilization by the dual nucleotide-specific glucose 6-phosphate dehydrogenase from Leuconostoc mesenteroids. Abstract

Simultaneous analysis of NAD- and NADP-linked activities of dual nucleotide-specific dehydrogenases. Application to Leuconostoc mesenteroides glucose-6-phosphate dehydrogenase. J Biol Chem. 1979 Jun 10; 254(11):4843-7. View Simultaneous analysis of NAD- and NADP-linked activities of dual nucleotide-specific dehydrogenases. Application to Leuconostoc mesenteroides glucose-6-phosphate dehydrogenase. Abstract