Publications:

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GALD: new diagnostic tip for early diagnosis - a case report and literature review.

Frontiers In Reproductive Health

Zermano, Silvia S; Novak, Alice A; Vogrig, Emanuela E; Parisi, Nadia N; Driul, Lorenza L

Publication Date: 2023

Variant appearance in text: NPC1: 2257G>A

PubMed Link: 37251532

Variant Present in the following documents:

• frph-05-1077304.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NPC1: V753M; rs146874573

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.

Scientific Reports

Touma, Lahoud L; Labrecque, Marjorie M; Tetreault, Martine M; Duquette, Antoine A

Publication Date: 2021-05-14

Variant appearance in text: NPC1: V753M

PubMed Link: 33990640

Variant Present in the following documents:

• Main text
• 41598_2021_Article_89630.pdf

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs146874573

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: NPC1: V753M; rs146874573

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

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

Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD

Publication Date: 2016-01

Variant appearance in text: NPC1: 2257G>A; V753M; rs146874573

PubMed Link: 25764212

Variant Present in the following documents:

• Main text
• emss-62276.pdf

View BVdb publication page

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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet Journal Of Rare Diseases

Fernández-Marmiesse, Ana A; Morey, Marcos M; Pineda, Merce M; Eiris, Jesús J; Couce, Maria Luz ML; Castro-Gago, Manuel M; Fraga, Jose Maria JM; Lacerda, Lucia L; Gouveia, Sofia S; Pérez-Poyato, Maria Socorro MS; Armstrong, Judith J; Castiñeiras, Daisy D; Cocho, Jose A JA

Publication Date: 2014-04-25

Variant appearance in text: NPC1: 2257G>A; V753M

PubMed Link: 24767253

Variant Present in the following documents:

• Main text
• 1750-1172-9-59.pdf

View BVdb publication page

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