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

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)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

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

Johnson, Katherine
Bertoli, Marta
Phillips, Lauren
Töpf, Ana
Van Den Bergh, Peter
Vissing, John
Witting, Nanna
Nafissi, Shahriar
Jamal-Omidi, Shirin
Łusakowska, Anna
Kostera-Pruszczyk, Anna
Potulska-Chromik, Anna
Deconinck, Nicolas
Wallgren-Pettersson, Carina
Strang-Karlsson, Sonja
Colomer, Jaume
Claeys, Kristl G
De Ridder, Willem
Baets, Jonathan
von der Hagen, Maja
Fernández-Torrón, Roberto
Zulaica Ijurco, Miren
Espinal Valencia, Juan Bautista
Hahn, Andreas
Durmus, Hacer
Willis, Tracey
Xu, Liwen
Valkanas, Elise
Mullen, Thomas T.E.
Lek, Monkol
MacArthur, Daniel D.G.
Straub, Volker

July 2018

Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders t...

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

MYO-SEQ Consortium
Toepf, Ana
Lähdetie, Jaana
Strang-Karlsson, Sonja
Wallgren-Pettersson, Carina

September 2020

Purpose Several hundred genetic muscle diseases have been described, all of which are rare. Their cl...

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 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 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...

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

Kristin K McDonald
Jeffrey Stajich
Colette Blach
Allison E Ashley-Koch
Michael A Hauser

The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes...

Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

Kristin K. Mcdonald
Jeffrey Stajich
Colette Blach
Allison E. Ashley-koch
Michael A. Hauser

January 2012

The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (.100 causal genes...

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Reddy, Hemakumar M.
Cho, Kyung-Ah
Lek, Monkol
Estrella, Elicia
Valkanas, Elise
Jones, Michael D.
Mitsuhashi, Satomi
Darras, Basil T.
Amato, Anthony A.
Lidov, Hart G.W.
Brownstein, Catherine A.
Margulies, David M.
Yu, Timothy W.
Salih, Mustafa A.
Kunkel, Louis M.
MacArthur, Daniel G.
Kang, Peter B.

May 2017

The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United Stat...

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 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 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...

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...

Use of whole-exome sequencing for diagnosis of Limb-Girdle muscular dystrophy

Ghaoui, R.
Cooper, S.T.
Lek, M.
Jones, K.
Corbett, A.
Reddel, S.W.
Needham, M.
Liang, C.
Waddell, L.B.
Nicholson, G.
O’Grady, G.
Kaur, S.
Ong, R.
Davis, M.
Sue, C.M.
Laing, N.G.
North, K.N.
MacArthur, D.G.
Clarke, N.F.

January 2015

Importance To our knowledge, the efficacy of transferring next-generation sequencing from a researc...

Additional file 1: of Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

Elia Gil-Varea (5750123)
Elena Urcelay (166730)
Carles Vilariño-Güell (213915)
Carme Costa (621371)
Luciana Midaglia (5750126)
Fuencisla Matesanz (166725)
Alfredo Rodríguez-Antigüedad (673870)
Jorge Oksenberg (488201)
Laura Espino-Paisan (5750129)
A. Dessa Sadovnick (274845)
Albert Saiz (292059)
Luisa Villar (5750132)
Juan García-Merino (5750135)
Lluís Ramió-Torrentà (5750138)
Juan Triviño (3502571)
Ester Quintana (5750141)
René Robles (5750144)
Antonio Sánchez-López (5750147)
Rafael Arroyo (105688)
Jose Alvarez-Cermeño (5750150)
Angela Vidal-Jordana (5750153)
Sunny Malhotra (208443)
Nicolas Fissolo (3723523)
Xavier Montalban (5429)
Manuel Comabella (5426)

September 2018

Table S1. Demographic and clinical characteristics of the MS patients with benign and aggressive dis...

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)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

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

Johnson, Katherine
Bertoli, Marta
Phillips, Lauren
Töpf, Ana
Van Den Bergh, Peter
Vissing, John
Witting, Nanna
Nafissi, Shahriar
Jamal-Omidi, Shirin
Łusakowska, Anna
Kostera-Pruszczyk, Anna
Potulska-Chromik, Anna
Deconinck, Nicolas
Wallgren-Pettersson, Carina
Strang-Karlsson, Sonja
Colomer, Jaume
Claeys, Kristl G
De Ridder, Willem
Baets, Jonathan
von der Hagen, Maja
Fernández-Torrón, Roberto
Zulaica Ijurco, Miren
Espinal Valencia, Juan Bautista
Hahn, Andreas
Durmus, Hacer
Willis, Tracey
Xu, Liwen
Valkanas, Elise
Mullen, Thomas T.E.
Lek, Monkol
MacArthur, Daniel D.G.
Straub, Volker

July 2018

Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders t...

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

MYO-SEQ Consortium
Toepf, Ana
Lähdetie, Jaana
Strang-Karlsson, Sonja
Wallgren-Pettersson, Carina

September 2020

Purpose Several hundred genetic muscle diseases have been described, all of which are rare. Their cl...

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 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 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...

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

Kristin K McDonald
Jeffrey Stajich
Colette Blach
Allison E Ashley-Koch
Michael A Hauser

The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes...

Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

Kristin K. Mcdonald
Jeffrey Stajich
Colette Blach
Allison E. Ashley-koch
Michael A. Hauser

January 2012

The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (.100 causal genes...

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Reddy, Hemakumar M.
Cho, Kyung-Ah
Lek, Monkol
Estrella, Elicia
Valkanas, Elise
Jones, Michael D.
Mitsuhashi, Satomi
Darras, Basil T.
Amato, Anthony A.
Lidov, Hart G.W.
Brownstein, Catherine A.
Margulies, David M.
Yu, Timothy W.
Salih, Mustafa A.
Kunkel, Louis M.
MacArthur, Daniel G.
Kang, Peter B.

May 2017

The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United Stat...

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 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 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...

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...

Use of whole-exome sequencing for diagnosis of Limb-Girdle muscular dystrophy

Ghaoui, R.
Cooper, S.T.
Lek, M.
Jones, K.
Corbett, A.
Reddel, S.W.
Needham, M.
Liang, C.
Waddell, L.B.
Nicholson, G.
O’Grady, G.
Kaur, S.
Ong, R.
Davis, M.
Sue, C.M.
Laing, N.G.
North, K.N.
MacArthur, D.G.
Clarke, N.F.

January 2015

Importance To our knowledge, the efficacy of transferring next-generation sequencing from a researc...

Additional file 1: of Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

Elia Gil-Varea (5750123)
Elena Urcelay (166730)
Carles Vilariño-Güell (213915)
Carme Costa (621371)
Luciana Midaglia (5750126)
Fuencisla Matesanz (166725)
Alfredo Rodríguez-Antigüedad (673870)
Jorge Oksenberg (488201)
Laura Espino-Paisan (5750129)
A. Dessa Sadovnick (274845)
Albert Saiz (292059)
Luisa Villar (5750132)
Juan García-Merino (5750135)
Lluís Ramió-Torrentà (5750138)
Juan Triviño (3502571)
Ester Quintana (5750141)
René Robles (5750144)
Antonio Sánchez-López (5750147)
Rafael Arroyo (105688)
Jose Alvarez-Cermeño (5750150)
Angela Vidal-Jordana (5750153)
Sunny Malhotra (208443)
Nicolas Fissolo (3723523)
Xavier Montalban (5429)
Manuel Comabella (5426)

September 2018

Table S1. Demographic and clinical characteristics of the MS patients with benign and aggressive dis...

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)

May 2016

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay...

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

Johnson, Katherine
Bertoli, Marta
Phillips, Lauren
Töpf, Ana
Van Den Bergh, Peter
Vissing, John
Witting, Nanna
Nafissi, Shahriar
Jamal-Omidi, Shirin
Łusakowska, Anna
Kostera-Pruszczyk, Anna
Potulska-Chromik, Anna
Deconinck, Nicolas
Wallgren-Pettersson, Carina
Strang-Karlsson, Sonja
Colomer, Jaume
Claeys, Kristl G
De Ridder, Willem
Baets, Jonathan
von der Hagen, Maja
Fernández-Torrón, Roberto
Zulaica Ijurco, Miren
Espinal Valencia, Juan Bautista
Hahn, Andreas
Durmus, Hacer
Willis, Tracey
Xu, Liwen
Valkanas, Elise
Mullen, Thomas T.E.
Lek, Monkol
MacArthur, Daniel D.G.
Straub, Volker

July 2018

Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders t...

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

MYO-SEQ Consortium
Toepf, Ana
Lähdetie, Jaana
Strang-Karlsson, Sonja
Wallgren-Pettersson, Carina

September 2020

Purpose Several hundred genetic muscle diseases have been described, all of which are rare. Their cl...

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

Abstract

Extracted data

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

Abstract

Extracted data

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