Publications:

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: NAGPA: 1319G>C; G440A; rs149923128

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 1

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Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes.

European Journal Of Human Genetics : Ejhg

Raza, M Hashim MH; Domingues, Carlos E F CE; Webster, Ronald R; Sainz, Eduardo E; Paris, Emily E; Rahn, Rachel R; Gutierrez, Joanne J; Chow, Ho Ming HM; Mundorff, Jennifer J; Kang, Chang-Soo CS; Riaz, Naveeda N; Basra, Muhammad A R MA; Khan, Shaheen S; Riazuddin, Sheikh S; Moretti-Ferreira, Danilo D; Braun, Allen A; Drayna, Dennis D

Publication Date: 2016-04

Variant appearance in text: NAGPA: 1319G>C; Gly440Ala; rs149923128

PubMed Link: 26130485

Variant Present in the following documents:

• Main text

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs149923128

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: NAGPA: G440A; rs149923128

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

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A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering.

Neurobiology Of Disease

Han, Tae-Un TU; Park, John J; Domingues, Carlos F CF; Moretti-Ferreira, Danilo D; Paris, Emily E; Sainz, Eduardo E; Gutierrez, Joanne J; Drayna, Dennis D

Publication Date: 2014-09

Variant appearance in text: NAGPA: Gly440Ala

PubMed Link: 24807205

Variant Present in the following documents:

• Main text

View BVdb publication page