Publications:

De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: SI: R74C

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 32

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: SI: R74C

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

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Intermolecular associations determine the dynamics of the circadian KaiABC oscillator.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Qin, Ximing X; Byrne, Mark M; Mori, Tetsuya T; Zou, Ping P; Williams, Dewight R DR; McHaourab, Hassane H; Johnson, Carl Hirschie CH

Publication Date: 2010-08-17

Variant appearance in text: SI: R74C

PubMed Link: 20679240

Variant Present in the following documents:

• Main text

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