Publications:

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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

Molecular Syndromology

de Castro, Viviane Freitas VF; Mattos, Daniel D; de Carvalho, Flavia Martinez FM; Cavalcanti, Denise Pontes DP; Duenas-Roque, Milagros M MM; Llerena, Juan J; Cosentino, Viviana Raquel VR; Honjo, Rachel Sayuri RS; Leite, Julio Cesar Loguercio JCL; Sanseverino, Maria Teresa MT; de Souza, Márcia Pereira Alves MPA; Bernardi, Pricila P; Bolognese, Ana Maria AM; Santana da Silva, Luiz Carlos LC; Barbero, Pablo P; Correia, Patricia Santana PS; Bueno, Larissa Souza Mario LSM; Savastano, Clarice Pagani CP; Orioli, Iêda Maria IM

Publication Date: 2021-07

Variant appearance in text: TGIF1: 487C>T; Pro163Ser; rs4468717

PubMed Link: 34421500

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs4468717

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: TGIF1: 487C>T; Pro163Ser; rs4468717

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: TGIF1: P163S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.

Annals Of The Rheumatic Diseases

Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S

Publication Date: 2018-11

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 30030262

Variant Present in the following documents:

• annrheumdis-2018-213524supp002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Cold Spring Harbor Molecular Case Studies

Zastrow, Diane B DB; Zornio, Patricia A PA; Dries, Annika A; Kohler, Jennefer J; Fernandez, Liliana L; Waggott, Daryl D; Walkiewicz, Magdalena M; Eng, Christine M CM; Manning, Melanie A MA; Farrelly, Ellyn E; , ; Fisher, Paul G PG; Ashley, Euan A EA; Bernstein, Jonathan A JA; Wheeler, Matthew T MT

Publication Date: 2017-01

Variant appearance in text: TGIF1: 487C>T

PubMed Link: 28050602

Variant Present in the following documents:

• supp_mcs.a001388_TableS1.xls, sheet 1
• supp_mcs.a001388_TableS1.xls, sheet 2

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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The association of TGFB1 genetic polymorphisms with high myopia: a systematic review and meta-analysis.

International Journal Of Clinical And Experimental Medicine

Meng, Bo B; Li, Shi-Ming SM; Yang, Yu Y; Yang, Zhi-Rong ZR; Sun, Feng F; Kang, Meng-Tian MT; Sun, Yun-Yun YY; Ran, An-Ran AR; Wang, Jia-Nan JN; Yan, Ran R; BaI, Ya-Wen YW; Wang, Ning-Li NL; Zhan, Si-Yan SY

Publication Date: 2015

Variant appearance in text: rs4468717

PubMed Link: 26884952

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs4468717

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs4468717

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12

View BVdb publication page

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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Diabetologia

Albrechtsen, A A; Grarup, N N; Li, Y Y; Sparsø, T T; Tian, G G; Cao, H H; Jiang, T T; Kim, S Y SY; Korneliussen, T T; Li, Q Q; Nie, C C; Wu, R R; Skotte, L L; Morris, A P AP; Ladenvall, C C; Cauchi, S S; Stančáková, A A; Andersen, G G; Astrup, A A; Banasik, K K; Bennett, A J AJ; Bolund, L L; Charpentier, G G; Chen, Y Y; Dekker, J M JM; Doney, A S F AS; Dorkhan, M M; Forsen, T T; Frayling, T M TM; Groves, C J CJ; Gui, Y Y; Hallmans, G G; Hattersley, A T AT; He, K K; Hitman, G A GA; Holmkvist, J J; Huang, S S; Jiang, H H; Jin, X X; Justesen, J M JM; Kristiansen, K K; Kuusisto, J J; Lajer, M M; Lantieri, O O; Li, W W; Liang, H H; Liao, Q Q; Liu, X X; Ma, T T; Ma, X X; Manijak, M P MP; Marre, M M; Mokrosiński, J J; Morris, A D AD; Mu, B B; Nielsen, A A AA; Nijpels, G G; Nilsson, P P; Palmer, C N A CN; Rayner, N W NW; Renström, F F; Ribel-Madsen, R R; Robertson, N N; Rolandsson, O O; Rossing, P P; Schwartz, T W TW; , ; Slagboom, P E PE; Sterner, M M; , ; Tang, M M; Tarnow, L L; Tuomi, T T; van't Riet, E E; van Leeuwen, N N; Varga, T V TV; Vestmar, M A MA; Walker, M M; Wang, B B; Wang, Y Y; Wu, H H; Xi, F F; Yengo, L L; Yu, C C; Zhang, X X; Zhang, J J; Zhang, Q Q; Zhang, W W; Zheng, H H; Zhou, Y Y; Altshuler, D D; 't Hart, L M LM; Franks, P W PW; Balkau, B B; Froguel, P P; McCarthy, M I MI; Laakso, M M; Groop, L L; Christensen, C C; Brandslund, I I; Lauritzen, T T; Witte, D R DR; Linneberg, A A; Jørgensen, T T; Hansen, T T; Wang, J J; Nielsen, R R; Pedersen, O O

Publication Date: 2013-02

Variant appearance in text: TGIF1: P163S; rs4468717

PubMed Link: 23160641

Variant Present in the following documents:

• 125_2012_2756_MOESM26_ESM.pdf
• 125_2012_2756_MOESM28_ESM.pdf

View BVdb publication page

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Functional analysis of mutations in TGIF associated with holoprosencephaly.

Molecular Genetics And Metabolism

El-Jaick, Kenia B KB; Powers, Shannon E SE; Bartholin, Laurent L; Myers, Kenneth R KR; Hahn, Jin J; Orioli, Ieda M IM; Ouspenskaia, Maia M; Lacbawan, Felicitas F; Roessler, Erich E; Wotton, David D; Muenke, Maximilian M

Publication Date: 2007-01

Variant appearance in text: HPE4: 487C>T

PubMed Link: 16962354

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dissecting the genetics of human high myopia: a molecular biologic approach.

Transactions Of The American Ophthalmological Society

Young, Terri L TL

Publication Date: 2004

Variant appearance in text: rs4468717

PubMed Link: 15747770

Variant Present in the following documents:

• Main text

View BVdb publication page

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