SPRY4 mutations.

Identification of a novel truncating mutation in RASA1.

Shawna L. Organ (511473)
Josephine Hai (511474)
Nikolina Radulovich (129004)
Christopher B. Marshall (511475)
Lisa Leung (129001)
Takehiko Sasazuki (268168)
Senji Shirasawa (268173)
Chang-Qi Zhu (129006)
Roya Navab (9641)
Mitsuhiko Ikura (511476)
Ming-Sound Tsao (18603)

January 2014

A) Chromatogram showing relative intensities of each base pair after Sanger sequencing in both th...

Description of novel variants identified by sequencing in ERBB4.

Fernando S. Goes (276510)
Michael Rongione (171533)
Yun-Ching Chen (276507)
Rachel Karchin (61264)
Eran Elhaik (117355)
James B. Potash (171581)

February 2013

Description of novel variants identified by sequencing in ERBB4</i...

Sanger sequencing of the Mp3g19030.1 gene in Mpthar mutants and amino acid alignment of RTN4IP1 homologues.

Chloe Casey (14341756)
Thomas Köcher (14341759)
Clément Champion (14341762)
Katharina Jandrasits (14341765)
Magdalena Mosiolek (5713628)
Clémence Bonnot (14341768)
Liam Dolan (270514)

January 2023

(A, B, and C) Regions of the Mp3g19030.1 gene in Mpthar2 (A), Mpthar4 (B), and Mpthar6 (C) were Sang...

Comparison of the incidences of SMAD4 mutations across different molecular subtypes.

Amir Mehrvarz Sarshekeh (3818302)
Shailesh Advani (3818278)
Michael J. Overman (420496)
Ganiraju Manyam (2227252)
Bryan K. Kee (3818296)
David R. Fogelman (3818293)
Arvind Dasari (3818299)
Kanwal Raghav (3172167)
Eduardo Vilar (3818287)
Shanequa Manuel (3818290)
Imad Shureiqi (3818281)
Robert A. Wolff (678664)
Keyur P. Patel (3818284)
Raja Luthra (774811)
Kenna Shaw (3536021)
Cathy Eng (470950)
Dipen M. Maru (2282683)
Mark J. Routbort (3818305)
Funda Meric-Bernstam (478258)
Scott Kopetz (217667)

March 2017

Comparison of the incidences of SMAD4 mutations across different molecular subtypes.</p

Spectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/ABL gene according to the disease phase.

Shantashri Vaidya (687214)
Babu Rao Vundinti (687215)
Chandrakala Shanmukhaiah (687216)
Prantar Chakrabarti (687217)
Kanjaksha Ghosh (487786)

January 2015

* Novel mutations detectedSpectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/AB...

Summary of mutation types identified by multi-level structural analysis.

Ryan K. Shultzaberger (24946)
Rachel E. Abrams (6029189)
Challise J. Sullivan (6029192)
Anthony D. Schmitt (6029195)
Thomas W. J. Thompson (6029198)
John Dresios (6029201)

November 2018

Impact of the four different mutation types that were agnostically identified through our holistic a...

JAK kinase mutations.

Zeynep Kalender Atak (160796)
Kim De Keersmaecker (160802)
Valentina Gianfelici (160810)
Ellen Geerdens (160817)
Roel Vandepoel (160823)
Daphnie Pauwels (160832)
Michaël Porcu (160837)
Idoya Lahortiga (376977)
Vanessa Brys (160843)
Willy G. Dirks (160846)
Hilmar Quentmeier (160851)
Jacqueline Cloos (86801)
Harry Cuppens (70008)
Anne Uyttebroeck (160862)
Peter Vandenberghe (160870)
Jan Cools (71238)
Stein Aerts (9837)

June 2012

(A) Sanger sequencing chromatograms corresponding to confirmed JAK2/JAK3 variants. (B) Domain str...

Sequence Chromatograms Displaying the Types of KRAS Mutations Found in This Study

William Pao (25938)
Theresa Y Wang (71029)
Gregory J Riely (71030)
Vincent A Miller (71031)
Qiulu Pan (71032)
Marc Ladanyi (4470)
Maureen F Zakowski (71033)
Robert T Heelan (71034)
Mark G Kris (71035)
Harold E Varmus (3982)

February 2013

Sequence Chromatograms Displaying the Types of KRAS Mutations Found in This Study</p

Validation of candidate mutations by PCR-Sanger sequencing.

Byung Yoon Choi (407079)
Gibeom Park (407073)
Jungsoo Gim (449119)
Ah Reum Kim (449120)
Bong-Jik Kim (449121)
Hyo-Sang Kim (449122)
Joo Hyun Park (449123)
Taesung Park (4438)
Seung-Ha Oh (449124)
Kyu-Hee Han (407074)
Woong-Yang Park (207980)

August 2013

Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...

TET1 mutations in T-ALL.

Zeynep Kalender Atak (160796)
Kim De Keersmaecker (160802)
Valentina Gianfelici (160810)
Ellen Geerdens (160817)
Roel Vandepoel (160823)
Daphnie Pauwels (160832)
Michaël Porcu (160837)
Idoya Lahortiga (376977)
Vanessa Brys (160843)
Willy G. Dirks (160846)
Hilmar Quentmeier (160851)
Jacqueline Cloos (86801)
Harry Cuppens (70008)
Anne Uyttebroeck (160862)
Peter Vandenberghe (160870)
Jan Cools (71238)
Stein Aerts (9837)

June 2012

(A) Sanger sequencing chromatograms representing confimed TET1 variants. (B) Schematic representa...

Chomatograms of the three identified MC4R mutations.

Susana Granell (294467)
Clara Serra-Juhé (131897)
Gabriel Á. Martos-Moreno (294468)
Francisca Díaz (294469)
Luis A. Pérez-Jurado (131912)
Giulia Baldini (294470)
Jesús Argente (294471)

February 2013

Chromatograms of MC4R P272L (A), MC4R N74L (B) and MC4R I251L (C).</p

Τable 1. Information on mutations and reagents used for their identification.

Louiza Papazachariou (389615)
Panayiota Demosthenous (389614)
Myrtani Pieri (538401)
Gregory Papagregoriou (333784)
Isavella Savva (675490)
Christoforos Stavrou (675491)
Michael Zavros (675492)
Yiannis Athanasiou (333793)
Kyriakos Ioannou (675493)
Charalambos Patsias (675494)
Alexia Panagides (675495)
Costas Potamitis (675496)
Kyproula Demetriou (675497)
Marios Prikis (675498)
Michael Hadjigavriel (675499)
Maria Kkolou (675500)
Panayiota Loukaidou (675501)
Androulla Pastelli (675502)
Aristos Michael (675503)
Akis Lazarou (675504)
Maria Arsali (389616)
Loukas Damianou (675505)
Ioanna Goutziamani (675506)
Andreas Soloukides (675507)
Lakis Yioukas (675508)
Avraam Elia (389620)
Ioanna Zouvani (675509)
Polycarpos Polycarpou (675510)
Alkis Pierides (333795)
Konstantinos Voskarides (333789)
Constantinos Deltas (333799)

December 2014

If no restriction enzyme is given, detection was performed by direct Sanger DNA sequencing.<p...

Distribution of the identified GATA4 mutation and multiple sequence alignment of GATA4 protein.

Xiaoqing Zhang (80417)
Jian Wang (5901)
Bo Wang (86769)
Sun Chen (451920)
Qihua Fu (419021)
Kun Sun (117828)

July 2016

(A) Sequencing results of the GATA4 mutation. The arrow indicates the heterozygous nucleotides of...

Validation and evolutionary conservation of the identified mutations in the patient with VUR and proteinuria.

Rajshekhar Chatterjee (469410)
Mary Hoffman (469411)
Paul Cliften (469412)
Surya Seshan (469413)
Helen Liapis (469414)
Sanjay Jain (45129)

October 2013

(A) Sanger sequencing analysis confirms the novel COL4A3 mutations, COL4A3_G/A_G695R</i...

Rare variants in SMYD4 are associated with CHD patients.

Deyong Xiao (3902125)
Huijun Wang (288634)
Lili Hao (223998)
Xiao Guo (542560)
Xiaojing Ma (44943)
Yanyan Qian (164913)
Hongbo Chen (512850)
Jing Ma (24574)
Jin Zhang (53297)
Wei Sheng (2031655)
Weinian Shou (558098)
Guoying Huang (405973)
Duan Ma (40293)

August 2018

(A) Schematic diagram of the human SMYD4 gene. SMYD4 is composed of eleven exons, and two rare misse...

Identification of a novel truncating mutation in RASA1.

Shawna L. Organ (511473)
Josephine Hai (511474)
Nikolina Radulovich (129004)
Christopher B. Marshall (511475)
Lisa Leung (129001)
Takehiko Sasazuki (268168)
Senji Shirasawa (268173)
Chang-Qi Zhu (129006)
Roya Navab (9641)
Mitsuhiko Ikura (511476)
Ming-Sound Tsao (18603)

January 2014

A) Chromatogram showing relative intensities of each base pair after Sanger sequencing in both th...

Description of novel variants identified by sequencing in ERBB4.

Fernando S. Goes (276510)
Michael Rongione (171533)
Yun-Ching Chen (276507)
Rachel Karchin (61264)
Eran Elhaik (117355)
James B. Potash (171581)

February 2013

Description of novel variants identified by sequencing in ERBB4</i...

Sanger sequencing of the Mp3g19030.1 gene in Mpthar mutants and amino acid alignment of RTN4IP1 homologues.

Chloe Casey (14341756)
Thomas Köcher (14341759)
Clément Champion (14341762)
Katharina Jandrasits (14341765)
Magdalena Mosiolek (5713628)
Clémence Bonnot (14341768)
Liam Dolan (270514)

January 2023

(A, B, and C) Regions of the Mp3g19030.1 gene in Mpthar2 (A), Mpthar4 (B), and Mpthar6 (C) were Sang...

Comparison of the incidences of SMAD4 mutations across different molecular subtypes.

Amir Mehrvarz Sarshekeh (3818302)
Shailesh Advani (3818278)
Michael J. Overman (420496)
Ganiraju Manyam (2227252)
Bryan K. Kee (3818296)
David R. Fogelman (3818293)
Arvind Dasari (3818299)
Kanwal Raghav (3172167)
Eduardo Vilar (3818287)
Shanequa Manuel (3818290)
Imad Shureiqi (3818281)
Robert A. Wolff (678664)
Keyur P. Patel (3818284)
Raja Luthra (774811)
Kenna Shaw (3536021)
Cathy Eng (470950)
Dipen M. Maru (2282683)
Mark J. Routbort (3818305)
Funda Meric-Bernstam (478258)
Scott Kopetz (217667)

March 2017

Comparison of the incidences of SMAD4 mutations across different molecular subtypes.</p

Spectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/ABL gene according to the disease phase.

Shantashri Vaidya (687214)
Babu Rao Vundinti (687215)
Chandrakala Shanmukhaiah (687216)
Prantar Chakrabarti (687217)
Kanjaksha Ghosh (487786)

January 2015

* Novel mutations detectedSpectrum of mutations in the ABL KD and SH3-SH2 domain of BCR/AB...

Summary of mutation types identified by multi-level structural analysis.

Ryan K. Shultzaberger (24946)
Rachel E. Abrams (6029189)
Challise J. Sullivan (6029192)
Anthony D. Schmitt (6029195)
Thomas W. J. Thompson (6029198)
John Dresios (6029201)

November 2018

Impact of the four different mutation types that were agnostically identified through our holistic a...

JAK kinase mutations.

Zeynep Kalender Atak (160796)
Kim De Keersmaecker (160802)
Valentina Gianfelici (160810)
Ellen Geerdens (160817)
Roel Vandepoel (160823)
Daphnie Pauwels (160832)
Michaël Porcu (160837)
Idoya Lahortiga (376977)
Vanessa Brys (160843)
Willy G. Dirks (160846)
Hilmar Quentmeier (160851)
Jacqueline Cloos (86801)
Harry Cuppens (70008)
Anne Uyttebroeck (160862)
Peter Vandenberghe (160870)
Jan Cools (71238)
Stein Aerts (9837)

June 2012

(A) Sanger sequencing chromatograms corresponding to confirmed JAK2/JAK3 variants. (B) Domain str...

Sequence Chromatograms Displaying the Types of KRAS Mutations Found in This Study

William Pao (25938)
Theresa Y Wang (71029)
Gregory J Riely (71030)
Vincent A Miller (71031)
Qiulu Pan (71032)
Marc Ladanyi (4470)
Maureen F Zakowski (71033)
Robert T Heelan (71034)
Mark G Kris (71035)
Harold E Varmus (3982)

February 2013

Sequence Chromatograms Displaying the Types of KRAS Mutations Found in This Study</p

Validation of candidate mutations by PCR-Sanger sequencing.

Byung Yoon Choi (407079)
Gibeom Park (407073)
Jungsoo Gim (449119)
Ah Reum Kim (449120)
Bong-Jik Kim (449121)
Hyo-Sang Kim (449122)
Joo Hyun Park (449123)
Taesung Park (4438)
Seung-Ha Oh (449124)
Kyu-Hee Han (407074)
Woong-Yang Park (207980)

August 2013

Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...

TET1 mutations in T-ALL.

Zeynep Kalender Atak (160796)
Kim De Keersmaecker (160802)
Valentina Gianfelici (160810)
Ellen Geerdens (160817)
Roel Vandepoel (160823)
Daphnie Pauwels (160832)
Michaël Porcu (160837)
Idoya Lahortiga (376977)
Vanessa Brys (160843)
Willy G. Dirks (160846)
Hilmar Quentmeier (160851)
Jacqueline Cloos (86801)
Harry Cuppens (70008)
Anne Uyttebroeck (160862)
Peter Vandenberghe (160870)
Jan Cools (71238)
Stein Aerts (9837)

June 2012

(A) Sanger sequencing chromatograms representing confimed TET1 variants. (B) Schematic representa...

Chomatograms of the three identified MC4R mutations.

Susana Granell (294467)
Clara Serra-Juhé (131897)
Gabriel Á. Martos-Moreno (294468)
Francisca Díaz (294469)
Luis A. Pérez-Jurado (131912)
Giulia Baldini (294470)
Jesús Argente (294471)

February 2013

Chromatograms of MC4R P272L (A), MC4R N74L (B) and MC4R I251L (C).</p

Τable 1. Information on mutations and reagents used for their identification.

Louiza Papazachariou (389615)
Panayiota Demosthenous (389614)
Myrtani Pieri (538401)
Gregory Papagregoriou (333784)
Isavella Savva (675490)
Christoforos Stavrou (675491)
Michael Zavros (675492)
Yiannis Athanasiou (333793)
Kyriakos Ioannou (675493)
Charalambos Patsias (675494)
Alexia Panagides (675495)
Costas Potamitis (675496)
Kyproula Demetriou (675497)
Marios Prikis (675498)
Michael Hadjigavriel (675499)
Maria Kkolou (675500)
Panayiota Loukaidou (675501)
Androulla Pastelli (675502)
Aristos Michael (675503)
Akis Lazarou (675504)
Maria Arsali (389616)
Loukas Damianou (675505)
Ioanna Goutziamani (675506)
Andreas Soloukides (675507)
Lakis Yioukas (675508)
Avraam Elia (389620)
Ioanna Zouvani (675509)
Polycarpos Polycarpou (675510)
Alkis Pierides (333795)
Konstantinos Voskarides (333789)
Constantinos Deltas (333799)

December 2014

If no restriction enzyme is given, detection was performed by direct Sanger DNA sequencing.<p...

Distribution of the identified GATA4 mutation and multiple sequence alignment of GATA4 protein.

Xiaoqing Zhang (80417)
Jian Wang (5901)
Bo Wang (86769)
Sun Chen (451920)
Qihua Fu (419021)
Kun Sun (117828)

July 2016

(A) Sequencing results of the GATA4 mutation. The arrow indicates the heterozygous nucleotides of...

Validation and evolutionary conservation of the identified mutations in the patient with VUR and proteinuria.

Rajshekhar Chatterjee (469410)
Mary Hoffman (469411)
Paul Cliften (469412)
Surya Seshan (469413)
Helen Liapis (469414)
Sanjay Jain (45129)

October 2013

(A) Sanger sequencing analysis confirms the novel COL4A3 mutations, COL4A3_G/A_G695R</i...

Rare variants in SMYD4 are associated with CHD patients.

Deyong Xiao (3902125)
Huijun Wang (288634)
Lili Hao (223998)
Xiao Guo (542560)
Xiaojing Ma (44943)
Yanyan Qian (164913)
Hongbo Chen (512850)
Jing Ma (24574)
Jin Zhang (53297)
Wei Sheng (2031655)
Weinian Shou (558098)
Guoying Huang (405973)
Duan Ma (40293)

August 2018

(A) Schematic diagram of the human SMYD4 gene. SMYD4 is composed of eleven exons, and two rare misse...

Identification of a novel truncating mutation in RASA1.

Shawna L. Organ (511473)
Josephine Hai (511474)
Nikolina Radulovich (129004)
Christopher B. Marshall (511475)
Lisa Leung (129001)
Takehiko Sasazuki (268168)
Senji Shirasawa (268173)
Chang-Qi Zhu (129006)
Roya Navab (9641)
Mitsuhiko Ikura (511476)
Ming-Sound Tsao (18603)

January 2014

A) Chromatogram showing relative intensities of each base pair after Sanger sequencing in both th...

Description of novel variants identified by sequencing in ERBB4.

Fernando S. Goes (276510)
Michael Rongione (171533)
Yun-Ching Chen (276507)
Rachel Karchin (61264)
Eran Elhaik (117355)
James B. Potash (171581)

February 2013

Description of novel variants identified by sequencing in ERBB4</i...

Sanger sequencing of the Mp3g19030.1 gene in Mpthar mutants and amino acid alignment of RTN4IP1 homologues.

Chloe Casey (14341756)
Thomas Köcher (14341759)
Clément Champion (14341762)
Katharina Jandrasits (14341765)
Magdalena Mosiolek (5713628)
Clémence Bonnot (14341768)
Liam Dolan (270514)

January 2023

(A, B, and C) Regions of the Mp3g19030.1 gene in Mpthar2 (A), Mpthar4 (B), and Mpthar6 (C) were Sang...

Abstract

Extracted data

SPRY4 mutations.

Abstract

Extracted data

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