Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

Open link

Publication date

May 2016

DOI

10.6084/m9.figshare.c.3605429_d1.v1

Abstract

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay. (DOCX 69 kb

Extracted data

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Data Protection

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Inna Inashkina (841992)
Eriks Jankevics (3438554)
Janis Stavusis (3438551)
Inta Vasiljeva (3438545)
Kristine Viksne (3438563)
Ieva Micule (3438566)
Jurgis Strautmanis (3438557)
Maruta Naudina (3438548)
Loreta Cimbalistiene (3415880)
Vaidutis Kucinskas (3415886)
Astrida Krumina (3438560)
Algirdas Utkus (3415898)
Birute Burnyte (3415877)
Ausra Matuleviciene (3415874)
Baiba Lace (134607)

Open link

Publication date

May 2016

DOI

10.6084/m9.figshare.c.3605429_d1.v1

Abstract

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay. (DOCX 69 kb

Extracted data

Ghaoui, R.
Corbett, A.
Needham, M.
Farrar, M.
Sampaio, H.
Mowat, D.
Rajagopalan, S.
Liang, C.
Kaur, S.
Waddell, L.
Daly, K.
Thomas, B.P.
Lek, M.
Daly, M.J.
North, K.N.
MacArthur, D.G.
Sue, C.M.
Clarke, N.F.

January 2014

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...

Additional file 2: of Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing

Sushan Luo (6683156)
Minjie Xu (548720)
Jian Sun (27858)
Kai Qiao (713040)
Jie Song (60883)
Shuang Cai (379287)
Wenhua Zhu (355574)
Lei Zhou (19808)
Jianying Xi (4705294)
Jiahong Lu (4330093)
Xiaohua Ni (6421391)
Tonghai Dou (776920)
Chongbo Zhao (4705297)

May 2019

Table S2. Skeletal muscle ion channel genes with GC-rich (>â70%) regions (DOCX 15 kb

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies (3463469)
Hindi Alhindi (3463478)
Mohamed Almuhaizea (3463490)
Mohamed Abouelhoda (3463481)
Anas Alazami (3463484)
Ewa Goljan (3463487)
Banan Alyounes (3463454)
Dyala Jaroudi (3463475)
Abdulelah AlIssa (3463466)
Khalid Alabdulrahman (3463493)
Shazia Subhani (3463460)
Mohamed El-Kalioby (3463463)
Tariq Faquih (3463457)
Salma Wakil (3443921)
Nada Altassan (3463472)
Brian Meyer (764163)
Saeed Bohlega (38335)

September 2016

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 3: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

List of variants in genes expressed in the human muscle and in genes whose mouse homologs are expres...

Additional file 1: of Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 5: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Selected genes with reported skeletal muscle expression which could contribute to LGMD. (DOCX 16 kb

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

April 2018

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...

Additional file 1: Table S1. of Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo (4406713)
Kanako Goto (535848)
Hirofumi Komaki (3414734)
Harumasa Nakamura (4406716)
Madoka Mori-Yoshimura (4406719)
Yukiko Hayashi (84287)
Satomi Mitsuhashi (4406710)
Satoru Noguchi (111825)
En Kimura (227087)
Ichizo Nishino (111839)

August 2017

Clinical and dystrophin immunostaining in the patients with a small mutation. Table S2. Patients wit...

Additional file 1: of Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3

Christina Moloney (3428585)
Sruti Rayaprolu (462055)
John Howard (3428567)
Susan Fromholt (3428582)
Hilda Brown (121300)
Matt Collins (157831)
Mariela Cabrera (3428573)
Colin Duffy (3428576)
Zoe Siemienski (426639)
Dave Miller (3428570)
David Borchelt (3428579)
Jada Lewis (160723)

December 2018

Table S1. Animals used in the study. *Indicates genotype has been confirmed by sequencing. § indicat...

Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal (79044)
Johann Gassenhuber (2893028)
Tierney Phillips (4664332)
Glenn Oliveira (727212)
Rebecca Harbaugh (4664329)
Nikki Villarasa (71214)
Eric Topol (4664335)
Thomas Seufferlein (232037)
Bernhard Boehm (486686)

December 2017

Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...

G.P.219: Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort

Ghaoui, R.
Corbett, A.
Needham, M.
Farrar, M.
Sampaio, H.
Mowat, D.
Rajagopalan, S.
Liang, C.
Kaur, S.
Waddell, L.
Daly, K.
Thomas, B.P.
Lek, M.
Daly, M.J.
North, K.N.
MacArthur, D.G.
Sue, C.M.
Clarke, N.F.

January 2014

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...

Additional file 2: of Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing

Sushan Luo (6683156)
Minjie Xu (548720)
Jian Sun (27858)
Kai Qiao (713040)
Jie Song (60883)
Shuang Cai (379287)
Wenhua Zhu (355574)
Lei Zhou (19808)
Jianying Xi (4705294)
Jiahong Lu (4330093)
Xiaohua Ni (6421391)
Tonghai Dou (776920)
Chongbo Zhao (4705297)

May 2019

Table S2. Skeletal muscle ion channel genes with GC-rich (>â70%) regions (DOCX 15 kb

Additional file 1: of The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang (23021)
Victor Zhang (3197349)
Shaoyuan Li (122154)
Huan Li (120482)
Yiming Sun (541218)
Jing Li (10611)
Yuling Zhu (771868)
Ruojie He (4977644)
Jinfu Lin (5632655)
Cheng Zhang (70708)

August 2018

NGS protocol and the list of genes in the neuromuscular disorder panel. (DOCX 20 kb

Additional file 1: of A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

Dorota Monies (3463469)
Hindi Alhindi (3463478)
Mohamed Almuhaizea (3463490)
Mohamed Abouelhoda (3463481)
Anas Alazami (3463484)
Ewa Goljan (3463487)
Banan Alyounes (3463454)
Dyala Jaroudi (3463475)
Abdulelah AlIssa (3463466)
Khalid Alabdulrahman (3463493)
Shazia Subhani (3463460)
Mohamed El-Kalioby (3463463)
Tariq Faquih (3463457)
Salma Wakil (3443921)
Nada Altassan (3463472)
Brian Meyer (764163)
Saeed Bohlega (38335)

September 2016

Clinical characteristics and biopsy results of index cases for families studied. (DOCX 223 kb

Additional file 2: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
Michał Korostyński (2622910)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Lists of rare (< 1%) variants in genes related with “muscle phenotype” for individual patients. (XLS...

Additional file 1: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Clinical characteristics and WES results (including evidence of pathogenicity according to ACMG crit...

Additional file 3: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

List of variants in genes expressed in the human muscle and in genes whose mouse homologs are expres...

Katherine Johnson (3587309)
Marta Bertoli (4418092)
Lauren Phillips (1442983)
Ana Töpf (5572253)
Peter Van den Bergh (4018520)
John Vissing (428273)
Nanna Witting (670306)
Shahriar Nafissi (547379)
Shirin Jamal-Omidi (5572256)
Anna Łusakowska (5572259)
Anna Kostera-Pruszczyk (5572262)
Anna Potulska-Chromik (679153)
Nicolas Deconinck (541626)
Carina Wallgren-Pettersson (5572265)
Sonja Strang-Karlsson (331276)
Jaume Colomer (334937)
Kristl Claeys (4018517)
Willem De Ridder (5572268)
Jonathan Baets (3745237)
Maja von der Hagen (702743)
Roberto Fernández-Torrón (5572271)
Miren Zulaica Ijurco (5572274)
Juan Espinal Valencia (5572277)
Andreas Hahn (275151)
Hacer Durmus (727114)
Tracey Willis (3902269)
Liwen Xu (1519084)
Elise Valkanas (5572280)
Thomas Mullen (5572283)
Monkol Lek (287026)
Daniel MacArthur (3577367)
Volker Straub (251869)

July 2018

Clinical presentations and phenotypes of the 27 MYO-SEQ index cases with suspected pathogenic varian...

Additional file 5: of Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna (124406)
Anna Macias (5480486)
Marcin Piechota (48209)
MichaĹ KorostyĹski (5480489)
Anna Potulska-Chromik (679153)
Maria Redowicz (5480492)
Cezary Zekanowski (4982891)

July 2018

Selected genes with reported skeletal muscle expression which could contribute to LGMD. (DOCX 16 kb

Additional file 1: of Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Nasser Elhawary (5078285)
Essam Jiffri (5078288)
Samira Jambi (5078270)
Ahmad Mufti (5078267)
Anas Dannoun (5078261)
Hassan Kordi (5078273)
Asim Khogeer (5078264)
Osama Jiffri (5078279)
Abdelrahman Elhawary (5078276)
Mohammed Tayeb (5078282)

April 2018

Table S1. Oligonucleotide Sequences of 15 multiplex PCR sets and amplification size fragments. (DOCX...

Additional file 1: Table S1. of Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Mariko Okubo (4406713)
Kanako Goto (535848)
Hirofumi Komaki (3414734)
Harumasa Nakamura (4406716)
Madoka Mori-Yoshimura (4406719)
Yukiko Hayashi (84287)
Satomi Mitsuhashi (4406710)
Satoru Noguchi (111825)
En Kimura (227087)
Ichizo Nishino (111839)

August 2017

Clinical and dystrophin immunostaining in the patients with a small mutation. Table S2. Patients wit...

Additional file 1: of Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3

Christina Moloney (3428585)
Sruti Rayaprolu (462055)
John Howard (3428567)
Susan Fromholt (3428582)
Hilda Brown (121300)
Matt Collins (157831)
Mariela Cabrera (3428573)
Colin Duffy (3428576)
Zoe Siemienski (426639)
Dave Miller (3428570)
David Borchelt (3428579)
Jada Lewis (160723)

December 2018

Table S1. Animals used in the study. *Indicates genotype has been confirmed by sequencing. § indicat...

Additional file 2: of Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

Vikas Bansal (79044)
Johann Gassenhuber (2893028)
Tierney Phillips (4664332)
Glenn Oliveira (727212)
Rebecca Harbaugh (4664329)
Nikki Villarasa (71214)
Eric Topol (4664335)
Thomas Seufferlein (232037)
Bernhard Boehm (486686)

December 2017

Supplementary Methods: Description of methods for pooled variant calling, gene-level tests for rare ...

G.P.219: Diagnosing the limb-girdle muscular dystrophies using whole exome sequencing: An Australian cohort

Ghaoui, R.
Corbett, A.
Needham, M.
Farrar, M.
Sampaio, H.
Mowat, D.
Rajagopalan, S.
Liang, C.
Kaur, S.
Waddell, L.
Daly, K.
Thomas, B.P.
Lek, M.
Daly, M.J.
North, K.N.
MacArthur, D.G.
Sue, C.M.
Clarke, N.F.

January 2014

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders associated w...

Additional file 2: of Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing

Sushan Luo (6683156)
Minjie Xu (548720)
Jian Sun (27858)
Kai Qiao (713040)
Jie Song (60883)
Shuang Cai (379287)
Wenhua Zhu (355574)
Lei Zhou (19808)
Jianying Xi (4705294)
Jiahong Lu (4330093)
Xiaohua Ni (6421391)
Tonghai Dou (776920)
Chongbo Zhao (4705297)

May 2019

Table S2. Skeletal muscle ion channel genes with GC-rich (>â70%) regions (DOCX 15 kb

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Abstract

Extracted data

Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Abstract

Extracted data

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