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Details of the hemizygous variations found in the exome of the male sibling.

Viviane Neri de Souza Reis (3694906)
João Paulo Kitajima (3694921)
Ana Carolina Tahira (3694912)
Ana Cecília Feio-dos-Santos (3694918)
Rodrigo Ambrósio Fock (3694915)
Bianca Cristina Garcia Lisboa (384611)
Sérgio Nery Simões (3694903)
Ana C. V. Krepischi (3694909)
Carla Rosenberg (822592)
Naila Cristina Lourenço (3694900)
Maria Rita Passos-Bueno (206549)
Helena Brentani (4648)

Publication date

January 2017

DOI

10.1371/journal.pone.0170386.t002

Abstract

<p>Details of the hemizygous variations found in the exome of the male sibling.</p

Extracted data

Related items

Case Report: Identification of Polygenic Mutations by Exome Sequencing

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The discovery of rare genetic variation through different gene sequencing methods is a very challeng...

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Thomas van Overeem Hansen (4759692)
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April 2019

Variants found in the present study and clinical characteristics of the families.</p

Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous states.

Yun Wang (32846)
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Meizhi Dai (320721)
Qiaona Yang (320722)
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<p>Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous...

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<p>Details of discordant variants from whole genome and exome sequencing data.</p

Rare exome variants identified in affected individuals from the investigated Cuban pedigrees.

Anna Maaser (3720025)
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Julian Hecker (758791)
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<p>The X axis was the mitochondrial gene name. The Y axis was the sample numbers which have nonsynon...

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EX-HOM (EXome-HOMozygosity): a proof of principle

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MARTELLI, PIER LUIGI
MAGINI, PAMELA
CASADIO, RITA
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ROMEO, GIOVANNI
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Magi A.
Torricelli F.

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OBJECTIVE: We provide the proof of principle that exome sequencing of only two affected siblings bor...

Distribution of variants identified by whole exome sequencing within genes previously associated with the risk of musculoskeletal soft tissue injuries.

Andrea Gibbon (5896748)
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October 2018

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January 2017

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Klaus Rieneck (392917)
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Frederik Banch Clausen (11657806)
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Balthasar Clemens Schlotmann (17262750)
Joachim Lütken Weischenfeldt (17262753)
Lars Juhl Jensen (850)
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October 2023

Variants found to satisfy the criteria of the women being homozygous with a minor allele and the men...

Key studies of familial aggregation, heritability, or genetic susceptibility in humans.

Peter Horby (65507)
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<p>Key studies of familial aggregation, heritability, or genetic susceptibility in humans.</p

Dataset for genes and gene variants from familial gastroschisis

Salinas-Torres Víctor M. (6678725)
Gallardo-Blanco Hugo L. (6678728)
Salinas-Torres Rafael A. (6678731)
Martínez de Villarreal Laura E. (6678734)

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Amirreza Haghighi (659977)
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Tanja C. W. Nijboer (8560158)
Ellen V. S. Hessel (8421981)
Gijs W. van Haaften (5791298)
Martine J. van Zandvoort (12216719)
Peter J. van der Spek (7329029)
Christine Troelstra (16080200)
Carolien G. F. de Kovel (16942976)
Bobby P. C. Koeleman (8537751)
Bert van der Zwaag (263759)
Eva H. Brilstra (16673901)
J. Peter H. Burbach (9979013)

September 2023

Selection is based on the presence of the mutation in the affected family members and the absence in...

Variants found in the present study and clinical characteristics of the families.

Maria Bejerholm Christensen (6645749)
Karin Wadt (447687)
Uffe Birk Jensen (395267)
Charlotte Kvist Lautrup (6645752)
Anders Bojesen (447688)
Lotte Nylandsted Krogh (489128)
Thomas van Overeem Hansen (4759692)
Anne-Marie Gerdes (395264)

April 2019

Variants found in the present study and clinical characteristics of the families.</p

Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous states.

Yun Wang (32846)
Liheng Guo (320720)
Su-Ping Cai (5652208)
Meizhi Dai (320721)
Qiaona Yang (320722)
Wenhan Yu (310953)
Naihong Yan (4825047)
Xiaomin Zhou (310952)
Jin Fu (141504)
Xinwu Guo (201033)
Pengfei Han (136692)
Jun Wang (5906)
Xuyang Liu (310954)

February 2013

<p>Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous...

Details of discordant variants from whole genome and exome sequencing data.

Pongsathorn Chaiyasap (580996)
Supasak Kulawonganunchai (580997)
Chalurmpon Srichomthong (580998)
Sissades Tongsima (79312)
Kanya Suphapeetiporn (580999)
Vorasuk Shotelersuk (581000)

June 2014

<p>Details of discordant variants from whole genome and exome sequencing data.</p

Rare exome variants identified in affected individuals from the investigated Cuban pedigrees.

Anna Maaser (3720025)
Andreas J. Forstner (3280866)
Jana Strohmaier (183209)
Julian Hecker (758791)
Kerstin U. Ludwig (701366)
Sugirthan Sivalingam (3720064)
Fabian Streit (3720028)
Franziska Degenhardt (429524)
Stephanie H. Witt (244441)
Céline S. Reinbold (3720073)
Anna C. Koller (5916902)
Ruth Raff (5916905)
Stefanie Heilmann-Heimbach (3280875)
Sascha B. Fischer (3720058)
Stefan Herms (429525)
Per Hoffmann (429526)
Holger Thiele (455371)
Peter Nürnberg (11534)
Heide Löhlein Fier (840736)
Guillermo Orozco-Díaz (5916908)
Deinys Carmenate-Naranjo (5916911)
Niurka Proenza-Barzaga (5916914)
Georg W. J. Auburger (5916917)
Till F. M. Andlauer (3185286)
Sven Cichon (170294)
Beatriz Marcheco-Teruel (603705)
Ole Mors (128054)
Marcella Rietschel (128064)
Markus M. Nöthen (160934)

October 2018

Rare exome variants identified in affected individuals from the investigated Cuban pedigrees.</p

Nonsynonymous variations in different mitochondrial genes.

Xiumei Zhen (777429)
Bailin Wu (197653)
Jian Wang (5901)
Cuiling Lu (777430)
Huafang Gao (158030)
Jie Qiao (120356)

July 2015

<p>The X axis was the mitochondrial gene name. The Y axis was the sample numbers which have nonsynon...

List of nucleotide variants from exome data which showed autosomal recessive inheritance model in consanguineous celiac disease family.

Jumana Yousuf Al-Aama (4025615)
Noor Ahmad Shaik (704629)
Babajan Banaganapalli (704628)
Mohammed A. Salama (4025624)
Omran Rashidi (4025627)
Ahmed N. Sahly (4025636)
Mohammed O. Mohsen (4025630)
Harbi A. Shawoosh (4025621)
Hebah Ahmad Shalabi (4025642)
Mohammad Al Edreesi (4025618)
Sameer E. Alharthi (4025639)
Jun Wang (5906)
Ramu Elango (704627)
Omar I. Saadah (4025633)

May 2017

<p>List of nucleotide variants from exome data which showed autosomal recessive inheritance model in...

EX-HOM (EXome-HOMozygosity): a proof of principle

PIPPUCCI, TOMMASO
MARTELLI, PIER LUIGI
MAGINI, PAMELA
CASADIO, RITA
SERI, MARCO
ROMEO, GIOVANNI
Benelli M.
Magi A.
Torricelli F.

January 2011

OBJECTIVE: We provide the proof of principle that exome sequencing of only two affected siblings bor...

Distribution of variants identified by whole exome sequencing within genes previously associated with the risk of musculoskeletal soft tissue injuries.

Andrea Gibbon (5896748)
Colleen J. Saunders (5896751)
Malcolm Collins (809758)
Junaid Gamieldien (54547)
Alison V. September (5896754)

October 2018

Schematic diagram demonstrating the number and distribution of variants identified through whole exo...

Summary of five candidate variants with a consistent inheritance pattern detected by whole exome sequencing analyses.

Hyun-Seok Jin (781848)
Jeonhyun Kim (3632980)
Woori Kwak (425016)
Hyeonsoo Jeong (3460376)
Gyu-Bin Lim (3632977)
Cha Gon Lee (3632983)

January 2017

<p>Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...

Exome based candidates satisfying selected criteria.

Klaus Rieneck (392917)
Karen Koefoed Rasmussen (17262738)
Erwin M. Schoof (1814932)
Frederik Banch Clausen (11657806)
Henrietta Holze (14253947)
Thomas Bergholt (558712)
Marianne Hørby Jørgensen (17262741)
Vibeke Brix Christensen (17262744)
Runar Almaas (17070973)
Peter Lüttge Jordal (17262747)
Marie Locard-Paulet (8250063)
Kasper Runager (1342683)
Leif Kofoed Nielsen (14675947)
Balthasar Clemens Schlotmann (17262750)
Joachim Lütken Weischenfeldt (17262753)
Lars Juhl Jensen (850)
Morten Hanefeld Dziegiel (17262756)

October 2023

Variants found to satisfy the criteria of the women being homozygous with a minor allele and the men...

Key studies of familial aggregation, heritability, or genetic susceptibility in humans.

Peter Horby (65507)
Nhu Y. Nguyen (177190)
Sarah J. Dunstan (96027)
J. Kenneth Baillie (177195)

March 2012

<p>Key studies of familial aggregation, heritability, or genetic susceptibility in humans.</p

Dataset for genes and gene variants from familial gastroschisis

Salinas-Torres Víctor M. (6678725)
Gallardo-Blanco Hugo L. (6678728)
Salinas-Torres Rafael A. (6678731)
Martínez de Villarreal Laura E. (6678734)

May 2019

The dataset consists of records from whole exome sequecing and bioinformatic analysis which includes...

Classification of the type of homozygous variants obtained by linkage analysis and whole exome sequencing.

Alireza Haghighi (659974)
Amit Tiwari (436122)
Niloofar Piri (659975)
Gudrun Nürnberg (49617)
Nasrollah Saleh-Gohari (659976)
Amirreza Haghighi (659977)
John Neidhardt (49598)
Peter Nürnberg (11534)
Wolfgang Berger (49619)

November 2014

<p>Classification of the type of homozygous variants obtained by linkage analysis and whole exome se...

Case Report: Identification of Polygenic Mutations by Exome Sequencing

Yanfeng Liu
Zhongshi Zheng
Qingling Zhu

October 2021

The discovery of rare genetic variation through different gene sequencing methods is a very challeng...

Selection of variants cosegregating with developmental colour agnosia based on whole exome sequencing.

Tanja C. W. Nijboer (8560158)
Ellen V. S. Hessel (8421981)
Gijs W. van Haaften (5791298)
Martine J. van Zandvoort (12216719)
Peter J. van der Spek (7329029)
Christine Troelstra (16080200)
Carolien G. F. de Kovel (16942976)
Bobby P. C. Koeleman (8537751)
Bert van der Zwaag (263759)
Eva H. Brilstra (16673901)
J. Peter H. Burbach (9979013)

September 2023

Selection is based on the presence of the mutation in the affected family members and the absence in...

Variants found in the present study and clinical characteristics of the families.

Maria Bejerholm Christensen (6645749)
Karin Wadt (447687)
Uffe Birk Jensen (395267)
Charlotte Kvist Lautrup (6645752)
Anders Bojesen (447688)
Lotte Nylandsted Krogh (489128)
Thomas van Overeem Hansen (4759692)
Anne-Marie Gerdes (395264)

April 2019

Variants found in the present study and clinical characteristics of the families.</p