Publications:

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Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.

Frontiers In Oncology

Al-Shinnag, Mohammad M; Marfan, Helen H; Susman, Rachel R; Wakeling, Jan J; Gustafson, Sonja S; Wood, Simon S; Mallett, Andrew John AJ

Publication Date: 2021

Variant appearance in text: FH: 689A>G

PubMed Link: 34604083

Variant Present in the following documents:

• Main text
• fonc-11-738822.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: FH: 689A>G; Lys230Arg; rs752232718

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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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: FH: 689A>G; K230R

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: FH: 689A>G; K230R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: FH: 689A>G; Lys230Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: 689A>G; Lys230Arg; rs752232718

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM3_ESM.pdf
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Long-term response of metastatic hereditary leiomyomatosis and renal cell carcinoma syndrome associated renal cell carcinoma to bevacizumab plus erlotinib after temsirolimus and axitinib treatment failures.

Bmc Urology

Park, Inkeun I; Shim, Young Sup YS; Go, Heounjeong H; Hong, Bum Sik BS; Lee, Jae Lyun JL

Publication Date: 2019-06-10

Variant appearance in text: rs752232718

PubMed Link: 31182090

Variant Present in the following documents:

• Main text
• 12894_2019_Article_484.pdf

View BVdb publication page

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Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci: A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma.

The American Journal Of Surgical Pathology

Smith, Steven C SC; Trpkov, Kiril K; Chen, Ying-Bei YB; Mehra, Rohit R; Sirohi, Deepika D; Ohe, Chisato C; Cani, Andi K AK; Hovelson, Daniel H DH; Omata, Kei K; McHugh, Jonathan B JB; Jochum, Wolfram W; Colecchia, Maurizio M; Amin, Mitual M; Divatia, Mukul K MK; Hes, Ondřej O; Menon, Santosh S; Werneck da Cunha, Isabela I; Tripodi, Sergio S; Brimo, Fadi F; Gill, Anthony J AJ; Osunkoya, Adeboye O AO; Magi-Galluzzi, Cristina C; Sibony, Mathilde M; Williamson, Sean R SR; Nesi, Gabriella G; Picken, Maria M MM; Maclean, Fiona F; Agaimy, Abbas A; Cheng, Liang L; Epstein, Jonathan I JI; Reuter, Victor E VE; Tickoo, Satish K SK; Tomlins, Scott A SA; Amin, Mahul B MB

Publication Date: 2016-11

Variant appearance in text: FH: K230R

PubMed Link: 27635946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

The American Journal Of Surgical Pathology

Harrison, Wesley J WJ; Andrici, Juliana J; Maclean, Fiona F; Madadi-Ghahan, Raha R; Farzin, Mahtab M; Sioson, Loretta L; Toon, Christopher W CW; Clarkson, Adele A; Watson, Nicole N; Pickett, Justine J; Field, Michael M; Crook, Ashley A; Tucker, Katherine K; Goodwin, Annabel A; Anderson, Lyndal L; Srinivasan, Bhuvana B; Grossmann, Petr P; Martinek, Petr P; Ondič, Ondrej O; Hes, Ondřej O; Trpkov, Kiril K; Clifton-Bligh, Roderick J RJ; Dwight, Trisha T; Gill, Anthony J AJ

Publication Date: 2016-05

Variant appearance in text: FH: Lys230Arg

PubMed Link: 26574848

Variant Present in the following documents:

• Main text
• pas-40-599.pdf

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: FH: K230R

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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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: 689A>G; K230R

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

View BVdb publication page

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: Lys230Arg

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

View BVdb publication page

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