Publications:

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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: SGCB: 452C>G; Thr151Arg

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: SGCB: 452C>G; Thr151Arg

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SGCB: 452C>G; Thr151Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Yiş, Uluç U; Diniz, Gülden G; Hazan, Filiz F; Daimagüler, Hülya Sevcan HS; Baysal, Bahar Toklu BT; Baydan, Figen F; Akinci, Gülçin G; Ünalp, Aycan A; Aktan, Gül G; Bayram, Erhan E; Hiz, Semra S; Paketçi, Cem C; Okur, Derya D; Özer, Erdener E; Danyeli, Ayça Ersen AE; Polat, Muzaffer M; Uyanik, Gökhan G; Çirak, Sebahattin S

Publication Date: 2018-09

Variant appearance in text: SGCB: T151R

PubMed Link: 30838351

Variant Present in the following documents:

• Main text
• am-2018-03-210.pdf

View BVdb publication page

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Different outcome of sarcoglycan missense mutation between human and mouse.

Plos One

Henriques, Sara F SF; Patissier, Cécile C; Bourg, Nathalie N; Fecchio, Chiara C; Sandona, Doriana D; Marsolier, Justine J; Richard, Isabelle I

Publication Date: 2018

Variant appearance in text: LGMD2E: T151R

PubMed Link: 29360879

Variant Present in the following documents:

• Main text

View BVdb publication page

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Limb-girdle Muscular Dystrophies in India: A Review.

Annals Of Indian Academy Of Neurology

Khadilkar, Satish V SV; Faldu, Hinaben Dayalal HD; Patil, Sarika Bapuso SB; Singh, Rakesh R

Publication Date: 2017

Variant appearance in text: SGCB: T151R

PubMed Link: 28615891

Variant Present in the following documents:

• AIAN-20-87.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SGCB: 452C>G; Thr151Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LGMD2E: T151R; rs28936383

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SGCB: T151R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: SGCB: T151R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File006.xls, sheet 4
• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

View BVdb publication page

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