Publications:

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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.

Genome Medicine

Ceyhan-Birsoy, Ozge O; Jayakumaran, Gowtham G; Kemel, Yelena Y; Misyura, Maksym M; Aypar, Umut U; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Mehta, Nikita N; Maio, Anna A; Arnold, Angela A; Salo-Mullen, Erin E; Sheehan, Margaret M; Syed, Aijazuddin A; Walsh, Michael M; Carlo, Maria M; Robson, Mark M; Offit, Kenneth K; Ladanyi, Marc M; Reis-Filho, Jorge S JS; Stadler, Zsofia K ZK; Zhang, Liying L; Latham, Alicia A; Zehir, Ahmet A; Mandelker, Diana D

Publication Date: 2022-08-15

Variant appearance in text: FH: His402Tyr

PubMed Link: 35971132

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1101.pdf

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Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood

Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S

Publication Date: 2021-12-02

Variant appearance in text: FH: H402Y

PubMed Link: 34189567

Variant Present in the following documents:

• Main text
• bloodBLD2021012037-suppl1.pdf
• 10.1182-2021012037_bloodbld2021012037-suppl1.pdf

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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: FH: 1204C>T; His402Tyr; rs760360724

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant.

Frontiers In Medicine

Piras, Rossella R; Iatropoulos, Paraskevas P; Bresin, Elena E; Todeschini, Marta M; Gastoldi, Sara S; Valoti, Elisabetta E; Alberti, Marta M; Mele, Caterina C; Galbusera, Miriam M; Cuccarolo, Paola P; Benigni, Ariela A; Remuzzi, Giuseppe G; Noris, Marina M

Publication Date: 2020

Variant appearance in text: FH: 1204C>T; H402Y

PubMed Link: 33224962

Variant Present in the following documents:

• Main text

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Complement in Secondary Thrombotic Microangiopathy.

Kidney International Reports

Palma, Lilian Monteiro Pereira LMP; Sridharan, Meera M; Sethi, Sanjeev S

Publication Date: 2021-01

Variant appearance in text: FH: His402Tyr

PubMed Link: 33102952

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 1204C>T; His402Tyr; rs760360724

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: FH: 1204C>T; H402Y

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association of Complement Factor D and H Polymorphisms with Recurrent Pregnancy Loss.

International Journal Of Molecular Sciences

Cho, Hee Young HY; Park, Han Sung HS; Ko, Eun Ju EJ; Ryu, Chang Soo CS; Kim, Jung Oh JO; Kim, Young Ran YR; Ahn, Eun Hee EH; Lee, Woo Sik WS; Kim, Nam Keun NK

Publication Date: 2019-12-18

Variant appearance in text: FH: His402Tyr

PubMed Link: 31861421

Variant Present in the following documents:

• ijms-21-00017.pdf

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: FH: H402Y

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 9

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A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome.

Kidney International Reports

Java, Anuja A; Pozzi, Nicola N; Love-Gregory, Latisha D LD; Heusel, Jonathan W JW; Sung, Yun Ju YJ; Hu, Zheng Z; Bertram, Paula P; Liszewski, M Kathryn MK; Cline, Laura M LM; Ren, Zhen Z; Atkinson, John P JP

Publication Date: 2019-07

Variant appearance in text: FH: H402Y

PubMed Link: 31312772

Variant Present in the following documents:

• Main text
• main.pdf

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Properdin: A multifaceted molecule involved in inflammation and diseases.

Molecular Immunology

Chen, Jin Y JY; Cortes, Claudio C; Ferreira, Viviana P VP

Publication Date: 2018-10

Variant appearance in text: FH: H402Y

PubMed Link: 29954621

Variant Present in the following documents:

• Main text

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Novel mechanisms and functions of complement.

Nature Immunology

Hajishengallis, George G; Reis, Edimara S ES; Mastellos, Dimitrios C DC; Ricklin, Daniel D; Lambris, John D JD

Publication Date: 2017-11-16

Variant appearance in text: FH: H402Y

PubMed Link: 29144501

Variant Present in the following documents:

• Main text

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Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

Jimd Reports

Ryder, B B; Moore, F F; Mitchell, A A; Thompson, S S; Christodoulou, J J; Balasubramaniam, S S

Publication Date: 2018

Variant appearance in text: FH: 1204C>T; His402Tyr

PubMed Link: 29052812

Variant Present in the following documents:

• Main text

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: FH: H402Y; rs760360724

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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Plasma levels of complement proteins from the alternative pathway in patients with age-related macular degeneration are independent of Complement Factor H Tyr⁴⁰²His polymorphism.

Molecular Vision

Silva, Aldacilene Souza AS; Teixeira, Anderson Gustavo AG; Bavia, Lorena L; Lin, Fabio F; Velletri, Roberta R; Belfort, Rubens R; Isaac, Lourdes L

Publication Date: 2012

Variant appearance in text: FH: His402Tyr

PubMed Link: 22969267

Variant Present in the following documents:

• mv-v18-2288.pdf

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The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

Journal Of The American Society Of Nephrology : Jasn

Martinez-Barricarte, Ruben R; Pianetti, Gaia G; Gautard, Ruxandra R; Misselwitz, Joachim J; Strain, Lisa L; Fremeaux-Bacchi, Veronique V; Skerka, Christine C; Zipfel, Peter F PF; Goodship, Tim T; Noris, Marina M; Remuzzi, Giuseppe G; de Cordoba, Santiago Rodriguez SR; ,

Publication Date: 2008-03

Variant appearance in text: FH: 1204C>T

PubMed Link: 18235085

Variant Present in the following documents:

• Main text

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