Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 2T>A; M1K

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome resequencing and complementation tests reveal candidate loci contributing to bacterial wilt (Ralstonia sp.) resistance in tomato.

Scientific Reports

Barchenger, Derek W DW; Hsu, Yu-Ming YM; Ou, Jheng-Yang JY; Lin, Ya-Ping YP; Lin, Yao-Cheng YC; Balendres, Mark Angelo O MAO; Hsu, Yun-Che YC; Schafleitner, Roland R; Hanson, Peter P

Publication Date: 2022-05-19

Variant appearance in text: GC: 2T>A

PubMed Link: 35589778

Variant Present in the following documents:

• 41598_2022_12326_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GC: 2T>A

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: GC: 2T>A; M1K

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

View BVdb publication page

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.

Journal Of Neurology, Neurosurgery, And Psychiatry

Grunseich, Christopher C; Sarkar, Nathan N; Lu, Joyce J; Owen, Mallory M; Schindler, Alice A; Calabresi, Peter A PA; Sumner, Charlotte J CJ; Roda, Ricardo H RH; Chaudhry, Vinay V; Lloyd, Thomas E TE; Crawford, Thomas O TO; Subramony, S H SH; Oh, Shin J SJ; Richardson, Perry P; Tanji, Kurenai K; Kwan, Justin Y JY; Fischbeck, Kenneth H KH; Mankodi, Ami A

Publication Date: 2021-11

Variant appearance in text: GC: 2T>A; M1K

PubMed Link: 34103343

Variant Present in the following documents:

• jnnp-2020-325437supp002.pdf

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: GC: 2T>A

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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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Journal Of Clinical Medicine

Aldrian, Denise D; Vogel, Georg F GF; Frey, Teresa K TK; Ayyıldız Civan, Hasret H; Aksu, Aysel Ünlüsoy AÜ; Avitzur, Yaron Y; Ramos Boluda, Ester E; Çakır, Murat M; Demir, Arzu Meltem AM; Deppisch, Caroline C; Duba, Hans-Christoph HC; Düker, Gesche G; Gerner, Patrick P; Hertecant, Jozef J; Hornová, Jarmila J; Kathemann, Simone S; Koeglmeier, Jutta J; Koutroumpa, Arsinoi A; Lanzersdorfer, Roland R; Lev-Tzion, Raffi R; Lima, Rosa R; Mansour, Sahar S; Meissl, Manfred M; Melek, Jan J; Miqdady, Mohamad M; Montoya, Jorge Hernan JH; Posovszky, Carsten C; Rachman, Yelena Y; Siahanidou, Tania T; Tabbers, Merit M; Uhlig, Holm H HH; Ünal, Sevim S; Wirth, Stefan S; Ruemmele, Frank M FM; Hess, Michael W MW; Huber, Lukas A LA; Müller, Thomas T; Sturm, Ekkehard E; Janecke, Andreas R AR

Publication Date: 2021-01-28

Variant appearance in text: GC: 2T>A

PubMed Link: 33525641

Variant Present in the following documents:

• Main text
• jcm-10-00481.pdf

View BVdb publication page

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Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.

Nature Communications

Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S

Publication Date: 2020-09-14

Variant appearance in text: GC: 2T>A

PubMed Link: 32929070

Variant Present in the following documents:

• 41467_2020_18391_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GC: 2T>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.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: N/A

PubMed Link: 28050602

Variant Present in the following documents:

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: GC: 2T>A

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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