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Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.

• Authors : Amosova, Maria¹ ; Poluboyarinova, Irina¹; Fadeev, Valentin¹

• Source: JCEM Case Reports. Aug2024, Vol. 2 Issue 8, p1-5. 5p.

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Identification and development of Tetra-ARMS PCR-based screening test for a genetic variant of OLA1 (Tyr254Cys) in the human failing heart.

• Authors : Dubey, Praveen K.¹ (AUTHOR); Dubey, Shubham¹ (AUTHOR); Singh, Sarojini¹ (AUTHOR)

Subjects: *GENETIC testing; *GENETIC variation; *HEART

• Source: PLoS ONE. 6/18/2024, Vol. 19 Issue 6, p1-15. 15p.

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EPHA4 Genetic Variant in a Patient with Epilepsy, Ophthalmological Anomalies, and Neurodevelopmental Delay.

• Authors : Sleptsova, M^1,2 (AUTHOR) ; Georgiev, C³ (AUTHOR); Atemin, S¹ (AUTHOR)

• Source: Balkan Journal of Medical Genetics. Dec2023, Vol. 26 Issue 2, p65-68. 4p.

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New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.

• Authors : Jönsson, Åsa Lina M.^1,2 (AUTHOR) ; Hilberg, Ole^3,4 (AUTHOR) ; Simonsen, Ulf² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/31/2023, Vol. 18 Issue 1, p1-15. 15p.

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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

• Authors : Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E

Subjects: Biological Sciences; Genetics; Human Genome

• Source: Genome Biology, vol 25, iss 1

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The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.

• Authors : Butnariu LI; Department of Medical Genetics, Faculty of Medicine, 'Grigore T. Popa' University of Medicine and Pharmacy, 700115 Iasi, Romania.; Bizim DA

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods Mason-Type Diabetes

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 07; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 07.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Genetic Variant Screening of DNA Repair Genes in Myelodysplastic Syndrome Identifies a Novel Mutation in the XRCC2 Gene.

• Authors : Valka, Jan^1,2 ; Vesela, Jitka¹; Votavova, Hana¹

• Source: Oncology Research & Treatment. 2019, Vol. 42 Issue 5, p263-268. 6p.

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Editorial: Methods in applied genetic epidemiology 2022

• Authors : Qi Guo; Christopher Neal Foley; Zhana Kuncheva

Subjects: genetic epidemiology; human genetics; rare genetic variant analysis

• Source: Frontiers in Genetics, Vol 15 (2024)

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Management of Patients With a Genetic Variant of Unknown Significance.

• Authors : Mahon, Suzanne M.

• Source: Oncology Nursing Forum. May2015, Vol. 42 Issue 3, p316-319. 4p. 1 Color Photograph, 3 Charts.

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A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

• Authors : Delvecchio, Maurizio¹ (AUTHOR) ; Ortolani, Federica¹ (AUTHOR) ; Palumbo, Orazio² (AUTHOR)

Subjects: *GENETIC variation; *CHROMOSOMES; *GENETIC testing

• Source: International Journal of Molecular Sciences. Aug2021, Vol. 22 Issue 15, p8082-8082. 1p.

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