Diagnostic Testing for Uniparental Disomy: a Points to Consider Statement from the American College of Medical Genetics and Genomics (ACMG)

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2020 Apr 17

PMID 32296163

Citations 63

Authors

Daniela Del Gaudio

Marwan Shinawi

Caroline Astbury

Marwan K Tayeh

Kristen L Deak

Gordana Raca

Affiliations

Soon will be listed here.

Citing Articles

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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

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Heterodisomy in the locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Manero-Azua A, Vado Y, Gonzalez Morla J, Mogas E, Pereda A, Perez de Nanclares G Front Endocrinol (Lausanne). 2024; 15:1505244.

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Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Fabiani M, Margiotti K, Libotte F, Ali C, Zangheri C, Barone M J Assist Reprod Genet. 2024; 42(1):265-273.

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Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J Eur J Hum Genet. 2024; 33(1):137-140.

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