Publications:

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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Genome Medicine

Li, Alexander H AH; Hanchard, Neil A NA; Furthner, Dieter D; Fernbach, Susan S; Azamian, Mahshid M; Nicosia, Annarita A; Rosenfeld, Jill J; Muzny, Donna D; D'Alessandro, Lisa C A LCA; Morris, Shaine S; Jhangiani, Shalini S; Parekh, Dhaval R DR; Franklin, Wayne J WJ; Lewin, Mark M; Towbin, Jeffrey A JA; Penny, Daniel J DJ; Fraser, Charles D CD; Martin, James F JF; Eng, Christine C; Lupski, James R JR; Gibbs, Richard A RA; Boerwinkle, Eric E; Belmont, John W JW

Publication Date: 2017-10-31

Variant appearance in text: ROCK1: 3334A>C

PubMed Link: 29089047

Variant Present in the following documents:

• 13073_2017_482_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35881519

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: ROCK1: T1112P

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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: ROCK1: T1112P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Functionally defined therapeutic targets in diffuse intrinsic pontine glioma.

Nature Medicine

Grasso, Catherine S CS; Tang, Yujie Y; Truffaux, Nathalene N; Berlow, Noah E NE; Liu, Lining L; Debily, Marie-Anne MA; Quist, Michael J MJ; Davis, Lara E LE; Huang, Elaine C EC; Woo, Pamelyn J PJ; Ponnuswami, Anitha A; Chen, Spenser S; Johung, Tessa B TB; Sun, Wenchao W; Kogiso, Mari M; Du, Yuchen Y; Qi, Lin L; Huang, Yulun Y; Hütt-Cabezas, Marianne M; Warren, Katherine E KE; Le Dret, Ludivine L; Meltzer, Paul S PS; Mao, Hua H; Quezado, Martha M; van Vuurden, Dannis G DG; Abraham, Jinu J; Fouladi, Maryam M; Svalina, Matthew N MN; Wang, Nicholas N; Hawkins, Cynthia C; Nazarian, Javad J; Alonso, Marta M MM; Raabe, Eric H EH; Hulleman, Esther E; Spellman, Paul T PT; Li, Xiao-Nan XN; Keller, Charles C; Pal, Ranadip R; Grill, Jacques J; Monje, Michelle M

Publication Date: 2015-06

Variant appearance in text: ROCK1: T1112P; rs35881519

PubMed Link: 25939062

Variant Present in the following documents:

• NIHMS680468-supplement-3.xlsx, sheet 3

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: ROCK1: T1112P; rs35881519

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 7

View BVdb publication page

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Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.

Plos One

Beaufort, Corine M CM; Helmijr, Jean C A JC; Piskorz, Anna M AM; Hoogstraat, Marlous M; Ruigrok-Ritstier, Kirsten K; Besselink, Nicolle N; Murtaza, Muhammed M; van IJcken, Wilfred F J WF; Heine, Anouk A J AA; Smid, Marcel M; Koudijs, Marco J MJ; Brenton, James D JD; Berns, Els M J J EM; Helleman, Jozien J

Publication Date: 2014

Variant appearance in text: ROCK1: 3334A>C; T1112P

PubMed Link: 25230021

Variant Present in the following documents:

• pone.0103988.s007.xlsx, sheet 1

View BVdb publication page

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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: ROCK1: T1112P; rs35881519

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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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: ROCK1: T1112P; rs35881519

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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