Publications:

---

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: SPEF2: R201G; rs80010329

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: SPEF2: 601A>G; Arg201Gly

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Nature Communications

Dougherty, Gerard W GW; Mizuno, Katsutoshi K; Nöthe-Menchen, Tabea T; Ikawa, Yayoi Y; Boldt, Karsten K; Ta-Shma, Asaf A; Aprea, Isabella I; Minegishi, Katsura K; Pang, Yuan-Ping YP; Pennekamp, Petra P; Loges, Niki T NT; Raidt, Johanna J; Hjeij, Rim R; Wallmeier, Julia J; Mussaffi, Huda H; Perles, Zeev Z; Elpeleg, Orly O; Rabert, Franziska F; Shiratori, Hidetaka H; Letteboer, Stef J SJ; Horn, Nicola N; Young, Samuel S; Strünker, Timo T; Stumme, Friederike F; Werner, Claudius C; Olbrich, Heike H; Takaoka, Katsuyoshi K; Ide, Takahiro T; Twan, Wang Kyaw WK; Biebach, Luisa L; Große-Onnebrink, Jörg J; Klinkenbusch, Judith A JA; Praveen, Kavita K; Bracht, Diana C DC; Höben, Inga M IM; Junger, Katrin K; Gützlaff, Jana J; Cindrić, Sandra S; Aviram, Micha M; Kaiser, Thomas T; Memari, Yasin Y; Dzeja, Petras P PP; Dworniczak, Bernd B; Ueffing, Marius M; Roepman, Ronald R; Bartscherer, Kerstin K; Katsanis, Nicholas N; Davis, Erica E EE; Amirav, Israel I; Hamada, Hiroshi H; Omran, Heymut H

Publication Date: 2020-11-02

Variant appearance in text: rs80010329

PubMed Link: 33139725

Variant Present in the following documents:

• Main text
• 41467_2020_Article_19113.pdf

View BVdb publication page

---

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Human Molecular Genetics

Ratnapriya, Rinki R; Acar, İlhan E İE; Geerlings, Maartje J MJ; Branham, Kari K; Kwong, Alan A; Saksens, Nicole T M NTM; Pauper, Marc M; Corominas, Jordi J; Kwicklis, Madeline M; Zipprer, David D; Starostik, Margaret R MR; Othman, Mohammad M; Yashar, Beverly B; Abecasis, Goncalo R GR; Chew, Emily Y EY; Ferrington, Deborah A DA; Hoyng, Carel B CB; Swaroop, Anand A; den Hollander, Anneke I AI

Publication Date: 2020-07-29

Variant appearance in text: SPEF2: R201G; rs80010329

PubMed Link: 32246154

Variant Present in the following documents:

• Main text
• ddaa057.pdf

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: SPEF2: R201G; rs80010329

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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: SPEF2: R201G; rs80010329

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM20_ESM.xlsx, sheet 5
• 41467_2017_2688_MOESM14_ESM.xls, sheet 4
• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

---

KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.

Oncotarget

Anastasaki, Corina C; Dahiya, Sonika S; Gutmann, David H DH

Publication Date: 2017-07-18

Variant appearance in text: SPEF2: R201G; rs80010329

PubMed Link: 28548933

Variant Present in the following documents:

• oncotarget-08-47574-s002.xlsx, sheet 1

View BVdb publication page

---

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: SPEF2: R201G

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: SPEF2: R201G; rs80010329

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

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: SPEF2: R201G

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs80010329

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.

Nature Genetics

Meimaridou, Eirini E; Kowalczyk, Julia J; Guasti, Leonardo L; Hughes, Claire R CR; Wagner, Florian F; Frommolt, Peter P; Nürnberg, Peter P; Mann, Nicholas P NP; Banerjee, Ritwik R; Saka, H Nurcin HN; Chapple, J Paul JP; King, Peter J PJ; Clark, Adrian J L AJ; Metherell, Louise A LA

Publication Date: 2012-05-27

Variant appearance in text: SPEF2: Arg201Gly

PubMed Link: 22634753

Variant Present in the following documents:

• NIHMS48043-supplement-1.pdf

View BVdb publication page

---