Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CTH: 200C>T; T67I

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2

View BVdb publication page

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Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: CTH: 200C>T; Thr67Ile

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s009.xlsx, sheet 1

View BVdb publication page

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Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine

Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,

Publication Date: 2022-04-08

Variant appearance in text: CTH: 200C>T; Thr67Ile

PubMed Link: 35395838

Variant Present in the following documents:

• 41525_2022_295_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: CTH: T67I; rs28941785

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N

Publication Date: 2022-06-01

Variant appearance in text: CTH: T67I

PubMed Link: 35101884

Variant Present in the following documents:

• ccr-21-2572_supplementary_table_s6_supps6.xls, sheet 1

View BVdb publication page

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The Expression and Activity of Rhodanese, 3-Mercaptopyruvate Sulfurtransferase, Cystathionine γ-Lyase in the Most Frequently Chosen Cellular Research Models.

Biomolecules

Kaczor-Kamińska, Marta M; Kaminski, Kamil K; Wróbel, Maria M

Publication Date: 2021-12-10

Variant appearance in text: rs28941785

PubMed Link: 34944503

Variant Present in the following documents:

• Main text
• biomolecules-11-01859.pdf

View BVdb publication page

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The Expression and Activity of Rhodanese, 3-Mercaptopyruvate Sulfurtransferase, Cystathionine γ-Lyase in the Most Frequently Chosen Cellular Research Models.

Biomolecules

Kaczor-Kamińska, Marta M; Kaminski, Kamil K; Wróbel, Maria M

Publication Date: 2021-12-10

Variant appearance in text: rs28941785

PubMed Link: 34944503

Variant Present in the following documents:

• Main text
• biomolecules-11-01859.pdf

View BVdb publication page

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Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Teerlink, Craig C CC; Miller, Justin B JB; Vance, Elizabeth L EL; Staley, Lyndsay A LA; Stevens, Jeffrey J; Tavana, Justina P JP; Cloward, Matthew E ME; Page, Madeline L ML; Dayton, Louisa L; , ; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK

Publication Date: 2022-02

Variant appearance in text: CTH: T67I

PubMed Link: 34151536

Variant Present in the following documents:

• ALZ-18-307-s002.xlsx, sheet 2
• ALZ-18-307-s002.xlsx, sheet 1

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CTH: 200C>T; Thr67Ile; rs28941785

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Neuroprotective Roles of the Reverse Transsulfuration Pathway in Alzheimer's Disease.

Frontiers In Aging Neuroscience

Paul, Bindu Diana BD

Publication Date: 2021

Variant appearance in text: CTH: 200C>T; Thr67Ile

PubMed Link: 33796019

Variant Present in the following documents:

• Main text
• fnagi-13-659402.pdf

View BVdb publication page

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Whole Genome Interpretation for a Family of Five.

Frontiers In Genetics

Corpas, Manuel M; Megy, Karyn K; Mistry, Vanisha V; Metastasio, Antonio A; Lehmann, Edmund E

Publication Date: 2021

Variant appearance in text: CTH: 200C>T; Thr67Ile

PubMed Link: 33763108

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: CTH: Thr67Ile; rs28941785

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf

View BVdb publication page

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Cystathionine gamma lyase and hydrogen sulfide: new players in orthodontic root resorption.

Annals Of Translational Medicine

Holliday, L Shannon LS; Dolce, Calogero C

Publication Date: 2020-06

Variant appearance in text: CTH: 200C>T; T67I

PubMed Link: 32647660

Variant Present in the following documents:

• atm-08-12-735.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: CTH: 200C>T

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sapp.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CTH: 200C>T; Thr67Ile; rs28941785

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: CTH: T67I; rs28941785

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s005.xlsx, sheet 1
• AJMG-179-1260-s007.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: CTH: 200C>T; Thr67Ile; rs28941785

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs28941785

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: CTH: T67I; rs28941785

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Role for Cystathionine γ Lyase (CSE) in an Ethanol (E)-Induced Lesion in Fetal Brain GSH Homeostasis.

International Journal Of Molecular Sciences

Patel, Dhyanesh D; Rathinam, Marylatha M; Jarvis, Courtney C; Mahimainathan, Lenin L; Henderson, George G; Narasimhan, Madhusudhanan M

Publication Date: 2018-05-22

Variant appearance in text: CTH: 200C>T; T67I

PubMed Link: 29786653

Variant Present in the following documents:

• ijms-19-01537.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: CTH: T67I; rs28941785

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Clinical Genetics

Ishida, M M; Cullup, T T; Boustred, C C; James, C C; Docker, J J; English, C C; , ; Lench, N N; Copp, A J AJ; Moore, G E GE; Greene, N D E NDE; Stanier, P P

Publication Date: 2018-04

Variant appearance in text: CTH: 200C>T; Thr67Ile; rs28941785

PubMed Link: 29205322

Variant Present in the following documents:

• Main text
• CGE-93-870-s003.pdf
• CGE-93-870.pdf

View BVdb publication page

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Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.

Obesity (Silver Spring, Md.)

Sabo, Aniko A; Mishra, Pamela P; Dugan-Perez, Shannon S; Voruganti, V Saroja VS; Kent, Jack W JW; Kalra, Divya D; Cole, Shelley A SA; Comuzzie, Anthony G AG; Muzny, Donna M DM; Gibbs, Richard A RA; Butte, Nancy F NF

Publication Date: 2017-07

Variant appearance in text: CTH: Thr67Ile; rs28941785

PubMed Link: 28508493

Variant Present in the following documents:

• Main text
• nihms866113.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: CTH: T67I; rs28941785

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Bmc Medical Genomics

Fang, Han H; Wu, Yiyang Y; Yang, Hui H; Yoon, Margaret M; Jiménez-Barrón, Laura T LT; Mittelman, David D; Robison, Reid R; Wang, Kai K; Lyon, Gholson J GJ

Publication Date: 2017-02-23

Variant appearance in text: CTH: 200C>T; T67I

PubMed Link: 28228131

Variant Present in the following documents:

• 12920_2017_246_MOESM2_ESM.pdf

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: CTH: 200C>T; Thr67Ile

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: CTH: 200C>T; Thr67Ile

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CTH: 200C>T; T67I; rs28941785

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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An exome array study of the plasma metabolome.

Nature Communications

Rhee, Eugene P EP; Yang, Qiong Q; Yu, Bing B; Liu, Xuan X; Cheng, Susan S; Deik, Amy A; Pierce, Kerry A KA; Bullock, Kevin K; Ho, Jennifer E JE; Levy, Daniel D; Florez, Jose C JC; Kathiresan, Sek S; Larson, Martin G MG; Vasan, Ramachandran S RS; Clish, Clary B CB; Wang, Thomas J TJ; Boerwinkle, Eric E; O'Donnell, Christopher J CJ; Gerszten, Robert E RE

Publication Date: 2016-07-25

Variant appearance in text: CTH: Thr67Ile; rs28941785

PubMed Link: 27453504

Variant Present in the following documents:

• Main text
• ncomms12360.pdf

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: rs28941785

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: CTH: T67I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs28941785

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: CTH: T67I; rs28941785

PubMed Link: 25333069

Variant Present in the following documents:

• mgg30002-0438-SD2.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: CTH: T67I

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs28941785

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

View BVdb publication page

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