Publications:

---

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: EFCAB13: Y546*

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

---

Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.

Frontiers In Genetics

Clarelli, Ferdinando F; Barizzone, Nadia N; Mangano, Eleonora E; Zuccalà, Miriam M; Basagni, Chiara C; Anand, Santosh S; Sorosina, Melissa M; Mascia, Elisabetta E; Santoro, Silvia S; , ; , ; Guerini, Franca Rosa FR; Virgilio, Eleonora E; Gallo, Antonio A; Pizzino, Alessandro A; Comi, Cristoforo C; Martinelli, Vittorio V; Comi, Giancarlo G; De Bellis, Gianluca G; Leone, Maurizio M; Filippi, Massimo M; Esposito, Federica F; Bordoni, Roberta R; Martinelli Boneschi, Filippo F; D'Alfonso, Sandra S

Publication Date: 2021

Variant appearance in text: rs118004742

PubMed Link: 35047017

Variant Present in the following documents:

• Main text
• fgene-12-800262.pdf

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: EFCAB13: Y546*; rs118004742

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 20

View BVdb publication page

---

Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: EFCAB13: Y546*; rs118004742

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: EFCAB13: Y546X; rs118004742

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: EFCAB13: Y546X; rs118004742

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

---

Revisiting the morbid genome of Mendelian disorders.

Genome Biology

Abouelhoda, Mohamed M; Faquih, Tariq T; El-Kalioby, Mohamed M; Alkuraya, Fowzan S FS

Publication Date: 2016-11-24

Variant appearance in text: rs118004742

PubMed Link: 27884173

Variant Present in the following documents:

• 13059_2016_1102_MOESM3_ESM.pdf

View BVdb publication page

---

Premature termination codons in modern human genomes.

Scientific Reports

Fujikura, Kohei K

Publication Date: 2016-03-02

Variant appearance in text: rs118004742

PubMed Link: 26932450

Variant Present in the following documents:

• srep22468-s1.pdf

View BVdb publication page

---

Fine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancer.

International Journal Of Cancer

Laitinen, Virpi H VH; Rantapero, Tommi T; Fischer, Daniel D; Vuorinen, Elisa M EM; Tammela, Teuvo L J TL; , ; Wahlfors, Tiina T; Schleutker, Johanna J

Publication Date: 2015-05-15

Variant appearance in text: EFCAB13: 1638T>G; Tyr546Ter; rs118004742

PubMed Link: 25335771

Variant Present in the following documents:

• Main text

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: rs118004742

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Plos Genetics

Alsalem, Ahmed B AB; Halees, Anason S AS; Anazi, Shamsa S; Alshamekh, Shomoukh S; Alkuraya, Fowzan S FS

Publication Date: 2013

Variant appearance in text: C17orf57: Y546X; rs118004742

PubMed Link: 24367280

Variant Present in the following documents:

• pgen.1004030.s004.xlsx, sheet 1

View BVdb publication page

---