Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TCF4: 1739G>A; R580Q

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: TCF4: R580Q

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: TCF4: R580Q

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

The Journal Of Biological Chemistry

Sirp, Alex A; Roots, Kaisa K; Nurm, Kaja K; Tuvikene, Jürgen J; Sepp, Mari M; Timmusk, Tõnis T

Publication Date: 2021-11-06

Variant appearance in text: TCF4: R580Q

PubMed Link: 34748727

Variant Present in the following documents:

• Main text
• main.pdf

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Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.

The Journal Of Biological Chemistry

Sirp, Alex A; Roots, Kaisa K; Nurm, Kaja K; Tuvikene, Jürgen J; Sepp, Mari M; Timmusk, Tõnis T

Publication Date: 2021-12

Variant appearance in text: TCF4: R580Q

PubMed Link: 34748727

Variant Present in the following documents:

• Main text
• main.pdf

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The subcellular localization of bHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals.

Scientific Reports

Greb-Markiewicz, Beata B; Kazana, Wioletta W; Zarębski, Mirosław M; Ożyhar, Andrzej A

Publication Date: 2019-10-30

Variant appearance in text: TCF4: R580Q

PubMed Link: 31666615

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52239.pdf

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Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.

Nucleic Acids Research

Yang, Jie J; Horton, John R JR; Li, Jia J; Huang, Yun Y; Zhang, Xing X; Blumenthal, Robert M RM; Cheng, Xiaodong X

Publication Date: 2019-09-19

Variant appearance in text: TCF4: R580Q

PubMed Link: 31081034

Variant Present in the following documents:

• Main text
• gkz381.pdf

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Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.

Journal Of Child Neurology

Goodspeed, Kimberly K; Newsom, Cassandra C; Morris, Mary Ann MA; Powell, Craig C; Evans, Patricia P; Golla, Sailaja S

Publication Date: 2018-03

Variant appearance in text: TCF4: 1739G>A

PubMed Link: 29318938

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TCF4: 1739G>A; Arg580Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.

American Journal Of Human Genetics

Malik, Sajid S; Percin, Ferda E FE; Bornholdt, Dorothea D; Albrecht, Beate B; Percesepe, Antonio A; Koch, Manuela C MC; Landi, Antonio A; Fritz, Barbara B; Khan, Rizwan R; Mumtaz, Sara S; Akarsu, Nurten A NA; Grzeschik, Karl-Heinz KH

Publication Date: 2014-12-04

Variant appearance in text: TCF4: Arg580Gln

PubMed Link: 25466284

Variant Present in the following documents:

• Main text

View BVdb publication page

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Adult Phenotypes in Angelman- and Rett-Like Syndromes.

Molecular Syndromology

Willemsen, M H MH; Rensen, J H M JH; van Schrojenstein-Lantman de Valk, H M J HM; Hamel, B C J BC; Kleefstra, T T

Publication Date: 2012-04

Variant appearance in text: TCF4: 1739G>A; Arg580Gln

PubMed Link: 22670143

Variant Present in the following documents:

• Main text

View BVdb publication page

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