Publications:

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry.

Genes

Manojlovic, Zarko Z; Auslander, Allyn A; Jin, Yuxin Y; Schmidt, Ryan J RJ; Xu, Yili Y; Chang, Sharon S; Song, Ruocen R; Ingles, Sue A SA; Nunes, Alana A; Vavra, K C KC; Feigelson, Devin D; Rakotoarison, Sylvia S; DiBona, Melissa M; Magee, Kathy K; Smile, Operation O; Ramamonjisoa, Anjaramamy A; Magee Iii, William W

Publication Date: 2023-03-07

Variant appearance in text: MSX1: 251A>T; Glu84Val; rs28928890

PubMed Link: 36980938

Variant Present in the following documents:

• Main text
• genes-14-00665.pdf

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: MSX1: 251A>T; rs28928890

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.

Molecular Medicine Reports

Lee, Cha Gon CG; Jang, Jahyeon J; Jin, Hyun-Seok HS

Publication Date: 2018-06

Variant appearance in text: MSX1: 251A>T; Glu84Val

PubMed Link: 29620237

Variant Present in the following documents:

• Main text

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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

European Journal Of Human Genetics : Ejhg

Liang, Jia J; Von den Hoff, Johannes J; Lange, Joanna J; Ren, Yijin Y; Bian, Zhuan Z; Carels, Carine E L CE

Publication Date: 2016-12

Variant appearance in text: MSX1: 251A>T; E84V

PubMed Link: 27381090

Variant Present in the following documents:

• Main text

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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: OFC5: E84V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page