M. Westemeyer

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

Z. Demko, S. Kmoch, Samuel P. Strom, 2022, American Journal of Nephrology.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly

J. Rosenfeld, B. Torchia, L. Shaffer, 2013, Molecular Syndromology.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Joshua L. Deignan, Lora J. H. Bean, J. Rosenfeld, 2020, American journal of medical genetics. Part A.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

C. Eng, M. Rabinowitz, Z. Demko, 2020, Genetics in Medicine.

Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

C. Eng, M. Rabinowitz, Z. Demko, 2020, Genetics in Medicine.

SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

M. Rabinowitz, Z. Demko, B. Zimmermann, 2013, Prenatal diagnosis.

Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach

Matthew Rabinowitz, M. Rabinowitz, Z. Demko, 2014, PloS one.

Genetic Counseling in Kidney Disease: A Perspective

Q. Stein, M. Hager, E. Hendricks, 2023, Kidney medicine.

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease

A. Gharavi, M. Marasà, Hila Milo-Rasouly, 2023, Journal of the American Society of Nephrology : JASN.