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Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.

Irene Mademont-Soler (672587)
Jesus Mates (672591)
Raquel Yotti (4330555)
Maria Angeles Espinosa (4330546)
Alexandra Pérez-Serra (105474)
Ana Isabel Fernandez-Avila (4330552)
Monica Coll (672590)
Irene Méndez (4330564)
Anna Iglesias (105490)
Bernat del Olmo (2931048)
Helena Riuró (105480)
Sofía Cuenca (4330531)
Catarina Allegue (672588)
Oscar Campuzano (105492)
Ferran Picó (105486)
Carles Ferrer-Costa (10293)
Patricia Álvarez (2715733)
Sergio Castillo (4330558)
Pablo Garcia-Pavia (3577313)
Esther Gonzalez-Lopez (4330534)
Laura Padron-Barthe (4330543)
Aranzazu Díaz de Bustamante (4330537)
María Teresa Darnaude (4330561)
José Ignacio González-Hevia (4330549)
Josep Brugada (285270)
Francisco Fernandez-Aviles (4330540)
Ramon Brugada (105500)

Publication date

August 2017

DOI

10.1371/journal.pone.0181465.t002

Abstract

<p>Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.</p

Extracted data

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Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with hereditary VUR.

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November 2022

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with ...

Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS, and the mechanistic rationale for inclusion of each candidate gene.

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<p>Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS...

Description of genetic variants related to T2D examined in the present study.

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September 2023

Description of genetic variants related to T2D examined in the present study.</p

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

Lorena Martin-Morales (5793827)
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Thierry Billette de Villemeur (5228228)
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May 2018

<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p

The pathogenic and likely pathogenic variants of OTOF identified in this study.

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Yukihiko Kanda (4952173)
Mirei Taniguchi (301092)
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Yuika Sakurai (6707801)
Rina Matsuoka (4031258)
Hidehiko Takeda (3896224)
Satoko Abe (181071)
Chiharu Kihara (4952179)
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Satoshi Iwasaki (533639)
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May 2019

The pathogenic and likely pathogenic variants of OTOF identified in this study.</p

Pathogenic/likely pathogenic variants in the 60 cancer-predisposing genes identified by WGS of 300 deceased patients<sup>*</sup>.

Karen Y. He (3184719)
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Quan Li (157017)
Fan Xia (219575)
Chunhua Weng (3387569)
Kai Wang (21246)
Max M. He (3184722)

December 2016

<p>Pathogenic/likely pathogenic variants in the 60 cancer-predisposing genes identified by WGS of 30...

The frequency of known/ suspected pathogenic SNPs which are polymorphic in other species (Position shown equates to location within rCRS genome sequence).

Rachel A. Queen (4607977)
Jannetta S. Steyn (4607974)
Phillip Lord (377388)
Joanna L. Elson (118457)

November 2017

<p>The frequency of known/ suspected pathogenic SNPs which are polymorphic in other species (Positio...

Virulence and antibiotic resistance encoding genes of the novel MRSA variants.

Samar S. Boswihi (3121485)
Edet E. Udo (3121488)
Stefan Monecke (112289)
Bindu Mathew (5117759)
Bobby Noronha (5117750)
Tina Verghese (5117753)
Sajida B. Tappa (5117756)

April 2018

<p>Virulence and antibiotic resistance encoding genes of the novel MRSA variants.</p

Virulence-associated genes in MRSA, MSSA and in isolates from different diagnoses.

Stefan Monecke (112289)
Elke Müller (237166)
Olivia Simona Dorneanu (566417)
Teodora Vremeră (566418)
Ralf Ehricht (46166)

May 2014

<p>Virulence-associated genes in MRSA, MSSA and in isolates from different diagnoses.</p

“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.

Paula Paulo (118862)
Sofia Maia (770164)
Carla Pinto (2994366)
Pedro Pinto (542484)
Augusta Monteiro (5105372)
Ana Peixoto (553053)
Manuel R. Teixeira (118886)

April 2018

<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...

Causative mutations and putatively pathogenic variants identified in this study.

PLOS ONE (2189197)

November 2014

<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...

Distribution of pathogenic variants and variants of uncertain significance.

Luciana Marcondes (5122583)
Jackie Crawford (5122565)
Nikki Earle (5122577)
Warren Smith (5122559)
Ian Hayes (5122562)
Paul Morrow (5122580)
Tom Donoghue (5122571)
Amanda Graham (579229)
Donald Love (5122568)
Jonathan R. Skinner (5122574)

April 2018

<p>Distribution of pathogenic variants and variants of uncertain significance.</p

Pathogenic <i>TRIM28</i> variants identified in nine S1 favorable histology Wilms tumors.

Amy E. Armstrong (6083105)
Samantha Gadd (6083108)
Vicki Huff (440759)
Daniela S. Gerhard (14310)
Jeffrey S. Dome (644296)
Elizabeth J. Perlman (157641)

December 2018

Pathogenic TRIM28 variants identified in nine S1 favorable histology Wilms tumors.</p

Odds of Pathogenicity Calculations for the Current BRCA1 Variant Functional Classifications.

Mariame Diabate (16828099)
Muhtadi M. Islam (16828102)
Gregory Nagy (6477500)
Tapahsama Banerjee (6528608)
Shruti Dhar (16828105)
Nahum Smith (16828108)
Aleksandra I. Adamovich (6528605)
Lea M. Starita (14877101)
Jeffrey D. Parvin (9955970)

August 2023

Odds of Pathogenicity Calculations for the Current BRCA1 Variant Functional Classifications.</p

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with hereditary VUR.

Zsuzsa I. Bartik (14164849)
Ulla Sillén (14164852)
Anna Djos (103682)
Anna Lindholm (3066531)
Susanne Fransson (12111435)

November 2022

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with ...

Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS, and the mechanistic rationale for inclusion of each candidate gene.

Jennifer M. Reinhart (2822525)
Alison Motsinger-Reif (222079)
Allison Dickey (2822528)
Steven Yale (838792)
Lauren A. Trepanier (2523916)

June 2016

<p>Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS...

Description of genetic variants related to T2D examined in the present study.

Gagandeep Kaur Walia (8374872)
Pratiksha Sharma (17027668)
Tripti Agarwal (2173453)
Moti Lal (17027671)
Himanshu Negandhi (3517379)
Dorairaj Prabhakaran (102287)
Rajesh Khadgawat (6834278)
Mohinder Pal Sachdeva (14333987)
Vipin Gupta (102192)

September 2023

Description of genetic variants related to T2D examined in the present study.</p

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel.

Lorena Martin-Morales (5793827)
Paula Rofes (5793830)
Eduardo Diaz-Rubio (5793833)
Patricia Llovet (457407)
Victor Lorca (5793836)
Inmaculada Bando (303136)
Pedro Perez-Segura (5793839)
Miguel de la Hoya (238670)
Pilar Garre (457403)
Vanesa Garcia-Barberan (3147174)
Trinidad Caldes (3147195)

September 2018

Pathogenic and likely pathogenic variants by gene identified by the TruSight cancer sequencing panel...

Pathogenic genetic variants identified in affected individuals with overlapping syndromes.

Sara Gonçalves (5228234)
Julie Patat (5228213)
Maria Clara Guida (5228216)
Noelle Lachaussée (5228231)
Christelle Arrondel (5228219)
Martin Helmstädter (152659)
Olivia Boyer (534577)
Olivier Gribouval (365164)
Marie-Claire Gubler (365165)
Geraldine Mollet (4524994)
Marlène Rio (3543572)
Marina Charbit (5228210)
Christine Bole-Feysot (182)
Patrick Nitschke (526224)
Tobias B. Huber (152684)
Patricia G. Wheeler (5228222)
Devon Haynes (5228225)
Jane Juusola (286251)
Thierry Billette de Villemeur (5228228)
Caroline Nava (529842)
Alexandra Afenjar (374554)
Boris Keren (374547)
Rolf Bodmer (76494)
Corinne Antignac (241981)
Matias Simons (152669)

May 2018

<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p

The pathogenic and likely pathogenic variants of OTOF identified in this study.

Yoh-ichiro Iwasa (415156)
Shin-ya Nishio (181068)
Akiko Sugaya (4952170)
Yuko Kataoka (6707795)
Yukihiko Kanda (4952173)
Mirei Taniguchi (301092)
Kyoko Nagai (533642)
Yasushi Naito (533644)
Tetsuo Ikezono (533643)
Rie Horie (6707798)
Yuika Sakurai (6707801)
Rina Matsuoka (4031258)
Hidehiko Takeda (3896224)
Satoko Abe (181071)
Chiharu Kihara (4952179)
Takashi Ishino (6707804)
Shin-ya Morita (245989)
Satoshi Iwasaki (533639)
Masahiro Takahashi (71299)
Tsukasa Ito (6707807)
Yasuhiro Arai (1908640)
Shin-ichi Usami (181067)

May 2019

The pathogenic and likely pathogenic variants of OTOF identified in this study.</p

Pathogenic/likely pathogenic variants in the 60 cancer-predisposing genes identified by WGS of 300 deceased patients<sup>*</sup>.

Karen Y. He (3184719)
Yiqing Zhao (581205)
Elizabeth W. McPherson (3387572)
Quan Li (157017)
Fan Xia (219575)
Chunhua Weng (3387569)
Kai Wang (21246)
Max M. He (3184722)

December 2016

<p>Pathogenic/likely pathogenic variants in the 60 cancer-predisposing genes identified by WGS of 30...

The frequency of known/ suspected pathogenic SNPs which are polymorphic in other species (Position shown equates to location within rCRS genome sequence).

Rachel A. Queen (4607977)
Jannetta S. Steyn (4607974)
Phillip Lord (377388)
Joanna L. Elson (118457)

November 2017

<p>The frequency of known/ suspected pathogenic SNPs which are polymorphic in other species (Positio...

Virulence and antibiotic resistance encoding genes of the novel MRSA variants.

Samar S. Boswihi (3121485)
Edet E. Udo (3121488)
Stefan Monecke (112289)
Bindu Mathew (5117759)
Bobby Noronha (5117750)
Tina Verghese (5117753)
Sajida B. Tappa (5117756)

April 2018

<p>Virulence and antibiotic resistance encoding genes of the novel MRSA variants.</p

Virulence-associated genes in MRSA, MSSA and in isolates from different diagnoses.

Stefan Monecke (112289)
Elke Müller (237166)
Olivia Simona Dorneanu (566417)
Teodora Vremeră (566418)
Ralf Ehricht (46166)

May 2014

<p>Virulence-associated genes in MRSA, MSSA and in isolates from different diagnoses.</p

“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.

Paula Paulo (118862)
Sofia Maia (770164)
Carla Pinto (2994366)
Pedro Pinto (542484)
Augusta Monteiro (5105372)
Ana Peixoto (553053)
Manuel R. Teixeira (118886)

April 2018

<p>“Likely/Potentially pathogenic” missense variants found in the 121 cases by targeted NGS panel.</...

Causative mutations and putatively pathogenic variants identified in this study.

PLOS ONE (2189197)

November 2014

<p>doi:10.1371/journal.pone.0078496.t001</p><p>Causative mutations and putatively pathogenic variant...

Distribution of pathogenic variants and variants of uncertain significance.

Luciana Marcondes (5122583)
Jackie Crawford (5122565)
Nikki Earle (5122577)
Warren Smith (5122559)
Ian Hayes (5122562)
Paul Morrow (5122580)
Tom Donoghue (5122571)
Amanda Graham (579229)
Donald Love (5122568)
Jonathan R. Skinner (5122574)

April 2018

<p>Distribution of pathogenic variants and variants of uncertain significance.</p

Pathogenic <i>TRIM28</i> variants identified in nine S1 favorable histology Wilms tumors.

Amy E. Armstrong (6083105)
Samantha Gadd (6083108)
Vicki Huff (440759)
Daniela S. Gerhard (14310)
Jeffrey S. Dome (644296)
Elizabeth J. Perlman (157641)

December 2018

Pathogenic TRIM28 variants identified in nine S1 favorable histology Wilms tumors.</p

Odds of Pathogenicity Calculations for the Current BRCA1 Variant Functional Classifications.

Mariame Diabate (16828099)
Muhtadi M. Islam (16828102)
Gregory Nagy (6477500)
Tapahsama Banerjee (6528608)
Shruti Dhar (16828105)
Nahum Smith (16828108)
Aleksandra I. Adamovich (6528605)
Lea M. Starita (14877101)
Jeffrey D. Parvin (9955970)

August 2023

Odds of Pathogenicity Calculations for the Current BRCA1 Variant Functional Classifications.</p

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with hereditary VUR.

Zsuzsa I. Bartik (14164849)
Ulla Sillén (14164852)
Anna Djos (103682)
Anna Lindholm (3066531)
Susanne Fransson (12111435)

November 2022

Three possibly pathogenic variants identified in nephrogenesis-related genes in three families with ...

Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS, and the mechanistic rationale for inclusion of each candidate gene.

Jennifer M. Reinhart (2822525)
Alison Motsinger-Reif (222079)
Allison Dickey (2822528)
Steven Yale (838792)
Lauren A. Trepanier (2523916)

June 2016

<p>Candidate genes within the GWAS hypothesized to be involved in the pathogenesis of sulfonamide HS...

Description of genetic variants related to T2D examined in the present study.

Gagandeep Kaur Walia (8374872)
Pratiksha Sharma (17027668)
Tripti Agarwal (2173453)
Moti Lal (17027671)
Himanshu Negandhi (3517379)
Dorairaj Prabhakaran (102287)
Rajesh Khadgawat (6834278)
Mohinder Pal Sachdeva (14333987)
Vipin Gupta (102192)

September 2023

Description of genetic variants related to T2D examined in the present study.</p