Publications by authors named "Hila Milo-Rasouly"

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Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken

Nat Commun· October 2025

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The Present and Future of Genetic Sequencing as Applied to Diagnosis and Management in Rheumatology.
Jason Liebowitz, Hila Milo Rasouly, Kelsie Bogyo, Lynn Petukhova, Elana J Bernstein

Arthritis Rheumatol· September 2025

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Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken

Nat Commun· August 2025

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To do or not to do-genetic testing for autosomal dominant polycystic kidney disease in children and adolescents.
Becky Mingyao Ma, Hila Milo Rasouly, Maya Sabatello

Kidney Int· July 2025

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Beyond Kidney Genes: Broad Clinical Implications of Genetic Testing for Nephrology Patients.
Naama Elefant, Maddalena Marasà, Hila Milo Rasouly

Semin Nephrol· July 2025

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CAKUT variants in , and : implications for splicing and ciliogenesis.
Lea M Merz, Shirlee Shril, Tucker J Carrocci, Csenge K Rezi, Natalie J Zeps

bioRxiv· July 2025

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The Art and Science of Genetic Counseling in Nephrology.
Kelsie Bogyo, Natalie Vena, Hila Milo Rasouly

Kidney360· April 2025

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Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education.
Hilda E Fernandez, Marissa Lipton, Olivia Balderes, Fangming Lin, Maddalena Marasa

Pediatr Nephrol· March 2025

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Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.
Emily Groopman, Hila Milo Rasouly

Kidney Int Rep· March 2025

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Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.
Nora Franceschini, David L Feldman, Jonathan S Berg, Whitney Besse, Alexander R Chang

Am J Kidney Dis· December 2024

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Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.
Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa

J Community Genet· December 2024

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Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants.
Robyn Weiss, Hila Milo Rasouly, Maddalena Marasa, Hilda Fernandez, Fangming Lin

Kidney Int Rep· November 2024

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Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients.
Becky M Ma, Naama Elefant, Martina Tedesco, Kelsie Bogyo, Natalie Vena

Kidney Int· July 2024

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Assisting the analysis of insertions and deletions using regional allele frequencies.
Sarath Babu Krishna Murthy, Sandy Yang, Shiraz Bheda, Nikita Tomar, Haiyue Li

Funct Integr Genomics· May 2024

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Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Jeremiah Martino, Qingxue Liu, Katarina Vukojevic, Juntao Ke, Tze Y Lim

Genet Med· December 2023

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The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Neera K Dahl, Michelle S Bloom, Fouad T Chebib, Dinah Clark, Maggie Westemeyer, Hila Milo-Rasouly

J Am Soc Nephrol· December 2023

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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R Shea, Emily E Groopman

Sci Rep· December 2023

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Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
Mark D Elliott, Maddalena Marasa, Enrico Cocchi, Natalie Vena, Jun Y Zhang

J Am Soc Nephrol· May 2023

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The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.
Hila Milo Rasouly, Olivia Balderes, Maddalena Marasa, Hilda Fernandez, Marissa Lipton

Genet Med· May 2023

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Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.
Christie P Thomas, Reem Daloul, Krista L Lentine, Reginald Gohh, Prince M Anand

Am J Transplant· May 2023

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Genetics of Kidney Disease: The Unexpected Role of Rare Disorders.
Mark D Elliott, Hila Milo Rasouly, Ali G Gharavi

Annu Rev Med· January 2023

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ZEB2 controls kidney stromal progenitor differentiation and inhibits abnormal myofibroblast expansion and kidney fibrosis.
Sudhir Kumar, Xueping Fan, Hila Milo Rasouly, Richa Sharma, David J Salant

JCI Insight· January 2023

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Incorporating genetics services into adult kidney disease care.
Kelsie Bogyo, Natalie Vena, Halie May, Hila Milo Rasouly, Maddalena Marasa

Am J Med Genet C Semin Med Genet· September 2022

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The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Kathleen A Leppig, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Harris T Bland

Genet Med· May 2022

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Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Natalie Lippa, Louise Bier, Anya Revah-Politi, Halie May, Sulagna Kushary

Genet Med· April 2022

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