Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RECQL4: 1573del; Cys525fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: RECQL4: 1573delT; rs386833845

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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Molecular Mechanisms of the RECQ4 Pathogenic Mutations.

Frontiers In Molecular Biosciences

Xu, Xiaohua X; Chang, Chou-Wei CW; Li, Min M; Liu, Chao C; Liu, Yilun Y

Publication Date: 2021

Variant appearance in text: RECQL4: 1573delT; Cys525fs

PubMed Link: 34869606

Variant Present in the following documents:

• Main text
• fmolb-08-791194.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: RECQL4: 1573delT; Cys525Alafs; rs386833845

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.

Children (Basel, Switzerland)

Zaidi, Abbas H AH; Yamada, Jessica M JM; Miller, David T DT; McEnaney, Kerry K; Ireland, Christina C; Roberts, Amy E AE; Gauvreau, Kimberlee K; Jenkins, Kathy J KJ; Chen, Ming Hui MH

Publication Date: 2021-02-10

Variant appearance in text: RECQL4: Cys525Alafs*33

PubMed Link: 33578785

Variant Present in the following documents:

• children-08-00128-s001.pdf

View BVdb publication page

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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

International Journal Of Molecular Sciences

Schmit, Megan M; Bielinsky, Anja-Katrin AK

Publication Date: 2021-01-18

Variant appearance in text: RECQL4: 1573delT

PubMed Link: 33477564

Variant Present in the following documents:

• Main text
• ijms-22-00911.pdf

View BVdb publication page

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Rothmund-Thomson Syndrome-like RECQL4 truncating mutations cause a haploinsufficient low bone mass phenotype in mice.

Molecular And Cellular Biology

Castillo-Tandazo, Wilson W; Frazier, Ann E AE; Sims, Natalie A NA; Smeets, Monique F MF; Walkley, Carl R CR

Publication Date: 2020-12-23

Variant appearance in text: RECQL4: Cys525AlafsX33

PubMed Link: 33361189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common germline-somatic variant interactions in advanced urothelial cancer.

Nature Communications

Vosoughi, Aram A; Zhang, Tuo T; Shohdy, Kyrillus S KS; Vlachostergios, Panagiotis J PJ; Wilkes, David C DC; Bhinder, Bhavneet B; Tagawa, Scott T ST; Nanus, David M DM; Molina, Ana M AM; Beltran, Himisha H; Sternberg, Cora N CN; Motanagh, Samaneh S; Robinson, Brian D BD; Xiang, Jenny J; Fan, Xiao X; Chung, Wendy K WK; Rubin, Mark A MA; Elemento, Olivier O; Sboner, Andrea A; Mosquera, Juan Miguel JM; Faltas, Bishoy M BM

Publication Date: 2020-12-03

Variant appearance in text: RECQL4: 1573delT; Cys525fs; rs386833845

PubMed Link: 33273457

Variant Present in the following documents:

• 41467_2020_19971_MOESM14_ESM.xlsx, sheet 1
• 41467_2020_19971_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Ophthalmology

Abdel-Rahman, Mohamed H MH; Sample, Klarke M KM; Pilarski, Robert R; Walsh, Tomas T; Grosel, Timothy T; Kinnamon, Daniel D; Boru, Getachew G; Massengill, James B JB; Schoenfield, Lynn L; Kelly, Ben B; Gordon, David D; Johansson, Peter P; DeBenedictis, Meghan J MJ; Singh, Arun A; Casadei, Silvia S; Davidorf, Frederick H FH; White, Peter P; Stacey, Andrew W AW; Scarth, James J; Fewings, Ellie E; Tischkowitz, Marc M; King, Mary-Claire MC; Hayward, Nicholas K NK; Cebulla, Colleen M CM

Publication Date: 2020-05

Variant appearance in text: RECQL4: 1573delT; Cys525fs; rs386833845

PubMed Link: 32081490

Variant Present in the following documents:

• Main text

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: RECQL4: 1573delT; Cys525fs

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Orphanet Journal Of Rare Diseases

Grelet, Maude M; Blanck, Véronique V; Sigaudy, Sabine S; Philip, Nicole N; Giuliano, Fabienne F; Khachnaoui, Khaoula K; Morel, Godelieve G; Grotto, Sarah S; Sophie, Julia J; Poirsier, Céline C; Lespinasse, James J; Alric, Laurent L; Calvas, Patrick P; Chalhoub, Gihane G; Layet, Valérie V; Molin, Arnaud A; Colson, Cindy C; Marsili, Luisa L; Edery, Patrick P; Lévy, Nicolas N; De Sandre-Giovannoli, Annachiara A

Publication Date: 2019-12-11

Variant appearance in text: RECQL4: 1573delT

PubMed Link: 31829210

Variant Present in the following documents:

• Main text

View BVdb publication page

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Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Cold Spring Harbor Molecular Case Studies

Maciaszek, Jamie L JL; Oak, Ninad N; Chen, Wenan W; Hamilton, Kayla V KV; McGee, Rose B RB; Nuccio, Regina R; Mostafavi, Roya R; Hines-Dowell, Stacy S; Harrison, Lynn L; Taylor, Leslie L; Gerhardt, Elsie L EL; Ouma, Annastasia A; Edmonson, Michael N MN; Patel, Aman A; Nakitandwe, Joy J; Pappo, Alberto S AS; Azzato, Elizabeth M EM; Shurtleff, Sheila A SA; Ellison, David W DW; Downing, James R JR; Hudson, Melissa M MM; Robison, Leslie L LL; Santana, Victor V; Newman, Scott S; Zhang, Jinghui J; Wang, Zhaoming Z; Wu, Gang G; Nichols, Kim E KE; Kesserwan, Chimene A CA

Publication Date: 2019-10

Variant appearance in text: RECQL4: 1573delT; Cys525Alafs; rs386833845

PubMed Link: 31604778

Variant Present in the following documents:

• Main text
• MCS004218Mac.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: RECQL4: 1573delT; Cys525fs; rs386833845

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.

Plos Genetics

Castillo-Tandazo, Wilson W; Smeets, Monique F MF; Murphy, Vincent V; Liu, Rui R; Hodson, Charlotte C; Heierhorst, Jörg J; Deans, Andrew J AJ; Walkley, Carl R CR

Publication Date: 2019-07

Variant appearance in text: RECQL4: C525AfsX33

PubMed Link: 31276497

Variant Present in the following documents:

• Main text
• pgen.1008266.pdf

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Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer

Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J

Publication Date: 2019-04-04

Variant appearance in text: RECQL4: 1573del; Cys525Alafs*33; rs386833845

PubMed Link: 30947698

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5494.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: RECQL4: 1573delT; Cys525Alafs

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

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: RECQL4: 1573delT; C525fs; rs386833845

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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Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Bmj Case Reports

Salih, Anas A; Inoue, Susumu S; Onwuzurike, Nkechi N

Publication Date: 2018-01-23

Variant appearance in text: RECQL4: Cys525Alafs*33

PubMed Link: 29367366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: RECQL4: 1573delT; Cys525Alafs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Molecular Genetics & Genomic Medicine

Suter, Aude-Annick AA; Itin, Peter P; Heinimann, Karl K; Ahmed, Munaza M; Ashraf, Tazeen T; Fryssira, Helen H; Kini, Usha U; Lapunzina, Pablo P; Miny, Peter P; Sommerlund, Mette M; Suri, Mohnish M; Vaeth, Signe S; Vasudevan, Pradeep P; Gallati, Sabina S

Publication Date: 2016-05

Variant appearance in text: RECQL4: 1573delT; Cys525Alafs*33

PubMed Link: 27247962

Variant Present in the following documents:

• Main text
• MGG3-4-359.pdf

View BVdb publication page

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Clinical utility gene card for: Rothmund-Thomson syndrome.

European Journal Of Human Genetics : Ejhg

Larizza, Lidia L; Roversi, Gaia G; Verloes, Alain A

Publication Date: 2013-07

Variant appearance in text: RECQL4: 1573delT; Cys525AlafsX33

PubMed Link: 23188052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rothmund-Thomson syndrome.

Orphanet Journal Of Rare Diseases

Larizza, Lidia L; Roversi, Gaia G; Volpi, Ludovica L

Publication Date: 2010-01-29

Variant appearance in text: RECQL4: 1573delT; Cys525AlafsX33

PubMed Link: 20113479

Variant Present in the following documents:

• Main text
• 1750-1172-5-2.pdf

View BVdb publication page

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The mutation spectrum in RECQL4 diseases.

European Journal Of Human Genetics : Ejhg

Siitonen, H Annika HA; Sotkasiira, Jenni J; Biervliet, Martine M; Benmansour, Abdelmadjid A; Capri, Yline Y; Cormier-Daire, Valerie V; Crandall, Barbara B; Hannula-Jouppi, Katariina K; Hennekam, Raoul R; Herzog, Denise D; Keymolen, Kathelijn K; Lipsanen-Nyman, Marita M; Miny, Peter P; Plon, Sharon E SE; Riedl, Stefan S; Sarkar, Ajoy A; Vargas, Fernando R FR; Verloes, Alain A; Wang, Lisa L LL; Kääriäinen, Helena H; Kestilä, Marjo M

Publication Date: 2009-02

Variant appearance in text: RECQL4: 1573delT; Cys525AlafsX33

PubMed Link: 18716613

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

Human Genetics

Jin, Weidong W; Liu, Hao H; Zhang, Yiqun Y; Otta, Subhendu K SK; Plon, Sharon E SE; Wang, Lisa L LL

Publication Date: 2008-07

Variant appearance in text: RECQL4: 1573delT

PubMed Link: 18504617

Variant Present in the following documents:

• Main text

View BVdb publication page

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