Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HEXA: 754C>T; Arg252Cys; rs566580738

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Scientific Reports

Mahdieh, Nejat N; Soveizi, Mahdieh M; Tavasoli, Ali Reza AR; Rabbani, Ali A; Ashrafi, Mahmoud Reza MR; Kohlschütter, Alfried A; Rabbani, Bahareh B

Publication Date: 2021-02-05

Variant appearance in text: HEXA: Arg252Cys

PubMed Link: 33547378

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82778.pdf

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The juvenile gangliosidoses: A timeline of clinical change.

Molecular Genetics And Metabolism Reports

King, Kelly E KE; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2020-12

Variant appearance in text: HEXA: Arg252Cys

PubMed Link: 33240792

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: HEXA: 754C>T

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

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Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Molecular Genetics & Genomic Medicine

Cecchi, Alana C AC; Vengoechea, Elizabeth S ES; Kaseniit, Kristjan E KE; Hardy, Melanie W MW; Kiger, Laura A LA; Mehta, Nikita N; Haque, Imran S IS; Moyer, Krista K; Page, Patricia Z PZ; Muzzey, Dale D; Grinzaid, Karen A KA

Publication Date: 2019-08

Variant appearance in text: HEXA: 754C>T

PubMed Link: 31293106

Variant Present in the following documents:

• MGG3-7-e836-s002.xlsx, sheet 5

View BVdb publication page