Publications:

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: GSN: 487G>T; D163Y

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: GSN: 487G>T; D163Y

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.

European Journal Of Human Genetics : Ejhg

Mustonen, Tuuli T; Schmidt, Eeva-Kaisa EK; Valori, Miko M; Tienari, Pentti J PJ; Atula, Sari S; Kiuru-Enari, Sari S

Publication Date: 2018-01

Variant appearance in text: rs121909715

PubMed Link: 29167514

Variant Present in the following documents:

• Main text

View BVdb publication page

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Muscle & Nerve

Caress, James B JB; Johnson, Janel O JO; Abramzon, Yevgeniya A YA; Hawkins, Gregory A GA; Gibbs, J Raphael JR; Sullivan, Elizabeth A EA; Chahal, Chamanpreet S CS; Traynor, Bryan J BJ

Publication Date: 2017-11

Variant appearance in text: rs121909715

PubMed Link: 28039894

Variant Present in the following documents:

• Main text

View BVdb publication page