Publications:

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Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders.

Frontiers In Molecular Neuroscience

Caracci, Mario O MO; Avila, Miguel E ME; Espinoza-Cavieres, Francisca A FA; López, Héctor R HR; Ugarte, Giorgia D GD; De Ferrari, Giancarlo V GV

Publication Date: 2021

Variant appearance in text: WNT1: S88R

PubMed Link: 34858139

Variant Present in the following documents:

• Main text
• fnmol-14-764756.pdf

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: WNT1: S88R; rs61758378

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 13
• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nature Neuroscience

Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH

Publication Date: 2019-02

Variant appearance in text: WNT1: Ser88Arg

PubMed Link: 30617258

Variant Present in the following documents:

• NIHMS1512664-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: WNT1: S88R; rs61758378

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: WNT1: Ser88Arg; rs61758378

PubMed Link: 29843651

Variant Present in the following documents:

• 12881_2018_608_MOESM1_ESM.pdf

View BVdb publication page

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Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

Scientific Reports

Lin, Chun-Yen CY; Chang, Kai-Wei KW; Lin, Chia-Yi CY; Wu, Jia-Ying JY; Coon, Hilary H; Huang, Pei-Hsin PH; Ho, Hong-Nerng HN; Akbarian, Schahram S; Gau, Susan Shur-Fen SS; Huang, Hsien-Sung HS

Publication Date: 2018-03-09

Variant appearance in text: WNT1: Ser88Arg

PubMed Link: 29523860

Variant Present in the following documents:

• 41598_2018_22753_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: WNT1: S88R; rs61758378

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 3

View BVdb publication page

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Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops.

Neuron

Mullins, Caitlin C; Fishell, Gord G; Tsien, Richard W RW

Publication Date: 2016-03-16

Variant appearance in text: WNT1: S88R

PubMed Link: 26985722

Variant Present in the following documents:

• Main text

View BVdb publication page

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A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation.

Translational Psychiatry

Martin, P-M PM; Yang, X X; Robin, N N; Lam, E E; Rabinowitz, J S JS; Erdman, C A CA; Quinn, J J; Weiss, L A LA; Hamilton, S P SP; Kwok, P-Y PY; Moon, R T RT; Cheyette, B N R BN

Publication Date: 2013-09-03

Variant appearance in text: WNT1: S88R; rs61758378

PubMed Link: 24002087

Variant Present in the following documents:

• Main text
• tp201375a.pdf

View BVdb publication page

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