Publications:

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Hgg Advances

Sobering, Andrew K AK; Bryant, Laura M LM; Li, Dong D; McGaughran, Julie J; Maystadt, Isabelle I; Moortgat, Stephanie S; Graham, John M JM; van Haeringen, Arie A; Ruivenkamp, Claudia C; Cuperus, Roos R; Vogt, Julie J; Morton, Jenny J; Brasch-Andersen, Charlotte C; Steenhof, Maria M; Hansen, Lars Kjærsgaard LK; Adler, Élodie É; Lyonnet, Stanislas S; Pingault, Veronique V; Sandrine, Marlin M; Ziegler, Alban A; Donald, Tyhiesia T; Nelson, Beverly B; Holt, Brandon B; Petryna, Oleksandra O; Firth, Helen H; McWalter, Kirsty K; Zyskind, Jacob J; Telegrafi, Aida A; Juusola, Jane J; Person, Richard R; Bamshad, Michael J MJ; Earl, Dawn D; , ; Tsai, Anne Chun-Hui AC; Yearwood, Katherine R KR; Marco, Elysa E; Nowak, Catherine C; Douglas, Jessica J; Hakonarson, Hakon H; Bhoj, Elizabeth J EJ

Publication Date: 2022-07-14

Variant appearance in text: CP: 1511C>T

PubMed Link: 35469323

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole genome analysis of more than 10 000 SARS-CoV-2 virus unveils global genetic diversity and target region of NSP6.

Briefings In Bioinformatics

Saha, Indrajit I; Ghosh, Nimisha N; Pradhan, Ayan A; Sharma, Nikhil N; Maity, Debasree D; Mitra, Kaushik K

Publication Date: 2021-03-22

Variant appearance in text: CP: P504L

PubMed Link: 33725111

Variant Present in the following documents:

• bbab025.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CP: 1511C>T; P504L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research

Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV

Publication Date: 2021-01

Variant appearance in text: CP: P504L

PubMed Link: 32767816

Variant Present in the following documents:

• PCMR-34-122-s006.xlsx, sheet 1

View BVdb publication page

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Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine

Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R

Publication Date: 2020-07-09

Variant appearance in text: CP: 1511C>T

PubMed Link: 32646514

Variant Present in the following documents:

• 13073_2020_753_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: CP: 1511C>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: CP: 1511C>T; Pro504Leu

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CP: 1511C>T; P504L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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