Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GDF6: A249E; rs121909352

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.

Cell Reports

Zhou, Fuchun F; Elzi, David J DJ; Jayabal, Panneerselvam P; Ma, Xiuye X; Chiu, Yu-Chiao YC; Chen, Yidong Y; Blackman, Barron B; Weintraub, Susan T ST; Houghton, Peter J PJ; Shiio, Yuzuru Y

Publication Date: 2020-11-03

Variant appearance in text: GDF6: A249E

PubMed Link: 33147457

Variant Present in the following documents:

• Main text
• nihms-1643870.pdf

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: GDF6: 746C>A; Ala249Glu; rs121909352

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Rare heterozygous GDF6 variants in patients with renal anomalies.

European Journal Of Human Genetics : Ejhg

Martens, Helge H; Hennies, Imke I; Getwan, Maike M; Christians, Anne A; Weiss, Anna-Carina AC; Brand, Frank F; Gjerstad, Ann Christin AC; Christians, Arne A; Gucev, Zoran Z; Geffers, Robert R; Seeman, Tomáš T; Kispert, Andreas A; Tasic, Velibor V; Bjerre, Anna A; Lienkamp, Soeren S SS; Haffner, Dieter D; Weber, Ruthild G RG

Publication Date: 2020-12

Variant appearance in text: GDF6: 746C>A; rs121909352

PubMed Link: 32737436

Variant Present in the following documents:

• Main text
• 41431_2020_Article_678.pdf
• 41431_2020_678_MOESM1_ESM.pdf
• 41431_2020_678_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: GDF6: 746C>A; Ala249Glu

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s012.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: GDF6: A249E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Bmc Medical Genetics

Mamelona, Jean J; Filice, Louisa L; Oussedik, Youcef Y; Crapoulet, Nicolas N; Ouellette, Rodney J RJ; Marrero, Alier A

Publication Date: 2019-05-08

Variant appearance in text: GDF6: 746C>A; Ala249Glu

PubMed Link: 31068177

Variant Present in the following documents:

• Main text
• 12881_2019_Article_804.pdf

View BVdb publication page

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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies

Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X

Publication Date: 2019-04

Variant appearance in text: GDF6: Ala249Glu

PubMed Link: 30755392

Variant Present in the following documents:

• supp_mcs.a003756_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: GDF6: 746C>A; Ala249Glu; rs121909352

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

View BVdb publication page

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A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.

American Journal Of Ophthalmology Case Reports

Bardakjian, Tanya T; Krall, Max M; Wu, Di D; Lao, Richard R; Tang, Paul Ling-Fung PL; Wan, Eunice E; Kopinsky, Sarina S; Schneider, Adele A; Kwok, Pui-Yan PY; Slavotinek, Anne A

Publication Date: 2017-09

Variant appearance in text: GDF6: 746C>A; Ala249Glu

PubMed Link: 29260090

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: GDF6: 746C>A; A249E; rs121909352

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: GDF6: 746C>A; Ala249Glu

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GDF6: A249E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Clinical Genetics

Slavotinek, A M AM; Garcia, S T ST; Chandratillake, G G; Bardakjian, T T; Ullah, E E; Wu, D D; Umeda, K K; Lao, R R; Tang, P L-F PL; Wan, E E; Madireddy, L L; Lyalina, S S; Mendelsohn, B A BA; Dugan, S S; Tirch, J J; Tischler, R R; Harris, J J; Clark, M J MJ; Chervitz, S S; Patwardhan, A A; West, J M JM; Ursell, P P; de Alba Campomanes, A A; Schneider, A A; Kwok, P-Y PY; Baranzini, S S; Chen, R O RO

Publication Date: 2015-11

Variant appearance in text: GDF6: 746C>A; Ala249Glu

PubMed Link: 25457163

Variant Present in the following documents:

• Main text

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: GDF6: A249E

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Molecular Genetics & Genomic Medicine

Gerth-Kahlert, Christina C; Williamson, Kathleen K; Ansari, Morad M; Rainger, Jacqueline K JK; Hingst, Volker V; Zimmermann, Theodor T; Tech, Stefani S; Guthoff, Rudolf F RF; van Heyningen, Veronica V; Fitzpatrick, David R DR

Publication Date: 2013-05

Variant appearance in text: GDF6: A249E

PubMed Link: 24498598

Variant Present in the following documents:

• mgg30001-0015-SD3.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: GDF6: A249E

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

Plos One

Markunas, Christina A CA; Soldano, Karen K; Dunlap, Kaitlyn K; Cope, Heidi H; Asiimwe, Edgar E; Stajich, Jeffrey J; Enterline, David D; Grant, Gerald G; Fuchs, Herbert H; Gregory, Simon G SG; Ashley-Koch, Allison E AE

Publication Date: 2013

Variant appearance in text: KFS: A249E; rs121909352

PubMed Link: 23620759

Variant Present in the following documents:

• Main text
• pone.0061521.pdf

View BVdb publication page

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Eye development genes and known syndromes.

Molecular Genetics And Metabolism

Slavotinek, Anne M AM

Publication Date: 2011-12

Variant appearance in text: GDF6: Ala249Glu

PubMed Link: 22005280

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.

Bmc Genetics

den Hollander, Anneke I AI; Biyanwila, Janisha J; Kovach, Peter P; Bardakjian, Tanya T; Traboulsi, Elias I EI; Ragge, Nicola K NK; Schneider, Adele A; Malicki, Jarema J

Publication Date: 2010-11-11

Variant appearance in text: GDF6: 746C>A

PubMed Link: 21070663

Variant Present in the following documents:

• Main text
• 1471-2156-11-102.pdf

View BVdb publication page

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Unveiling the bmp13 enigma: redundant morphogen or crucial regulator?

International Journal Of Biological Sciences

Williams, Lisa A LA; Bhargav, Divya D; Diwan, Ashish D AD

Publication Date: 2008-09-11

Variant appearance in text: KFS: A249E

PubMed Link: 18797508

Variant Present in the following documents:

• Main text
• ijbsv04p0318.pdf

View BVdb publication page

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