Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
Ool, Jans S. van
Verhoeven, J.S.
Mierlo, Petra van
Braakman, H.M.
Smeets, E.E.J.
Yntema, H.G.
Brunner, H.G.
Pfundt, R.P.
Kamsteeg, E.J.
Schelhaas, H.J.
Willemsen, M.H.

Open link

Publication date

January 2019

DOI

10.1111/epi.14618

Publisher

Wiley

Abstract

Contains fulltext : 201030.pdf (publisher's version ) (Closed access

Extracted data

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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
Ool, Jans S. van
Verhoeven, J.S.
Mierlo, Petra van
Braakman, H.M.
Smeets, E.E.J.
Yntema, H.G.
Brunner, H.G.
Pfundt, R.P.
Kamsteeg, E.J.
Schelhaas, H.J.
Willemsen, M.H.

Open link

Publication date

January 2019

DOI

10.1111/epi.14618

Publisher

Wiley

Abstract

Contains fulltext : 201030.pdf (publisher's version ) (Closed access

Extracted data

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P.
Simons, A.
AlZahrani, Mofareh S.
Yilmaz, Elanur
AlIdrissi, Eman
Aerde, K.J. van
Bleeker-Rovers, C.P.
Deuren, M. van
Flier, M. van der
Gilissen, C.
Hehir-Kwa, J.Y.
Henriet, S.S.
Hoppenreijs, E.P.
MacKenzie, M.A.
Mensenkamp, A.R.
Nelen, M.R.
Oever, J. ten
Schuurs-Hoeijmakers, J.H.M.
Simon, A.
Vorst, M. van de
Veltman, J.A.
Zelst-Stams, W.A.G. van
Veerdonk, F.L. van de
Netea, M.G.
Hoischen, A.

January 2019

Contains fulltext : 204759.pdf (publisher's version ) (Open Access

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Diagnostic value of partial exome sequencing in developmental disorders.

Laura Gieldon
Luisa Mackenroth
Anne-Karin Kahlert
Johannes R Lemke
Joseph Porrmann
Jens Schallner
Maja von der Hagen
Susanne Markus
Sabine Weidensee
Barbara Novotna
Charlotte Soerensen
Barbara Klink
Johannes Wagner
Andreas Tzschach
Arne Jahn
Franziska Kuhlee
Karl Hackmann
Evelin Schrock
Nataliya Di Donato
Andreas Rump

January 2018

Although intellectual disability is one of the major indications for genetic counselling, there are ...

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

Item does not contain fulltextBACKGROUND: The causes of intellectual disability remain largely unkno...

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon (5616821)
Luisa Mackenroth (3140664)
Anne-Karin Kahlert (4796442)
Johannes R. Lemke (3175583)
Joseph Porrmann (5616824)
Jens Schallner (5616827)
Maja von der Hagen (702743)
Susanne Markus (5616830)
Sabine Weidensee (5616833)
Barbara Novotna (5616836)
Charlotte Soerensen (5616839)
Barbara Klink (391506)
Johannes Wagner (166010)
Andreas Tzschach (2742220)
Arne Jahn (5616842)
Franziska Kuhlee (5616845)
Karl Hackmann (463518)
Evelin Schrock (63043)
Nataliya Di Donato (3862924)
Andreas Rump (464038)

August 2018

<div><p>Although intellectual disability is one of the major indications for genetic counselling, th...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

Veltra, D. Tilemis, F.-N. Marinakis, N.M. Svingou, M. Mitrakos, A. Kosma, K. Tsoutsou, I. Makrythanasis, P. Theodorou, V. Katsalouli, M. Vorgia, P. Niotakis, G. Vartzelis, G. Dinopoulos, A. Evangeliou, A. Mouskou, S. Korona, A. Mastroyianni, S. Papavasiliou, A. Tzetis, M. Pons, R. Traeger-Synodinos, J. Sofocleous, C.

January 2023

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve gene...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P.
Simons, A.
AlZahrani, Mofareh S.
Yilmaz, Elanur
AlIdrissi, Eman
Aerde, K.J. van
Bleeker-Rovers, C.P.
Deuren, M. van
Flier, M. van der
Gilissen, C.
Hehir-Kwa, J.Y.
Henriet, S.S.
Hoppenreijs, E.P.
MacKenzie, M.A.
Mensenkamp, A.R.
Nelen, M.R.
Oever, J. ten
Schuurs-Hoeijmakers, J.H.M.
Simon, A.
Vorst, M. van de
Veltman, J.A.
Zelst-Stams, W.A.G. van
Veerdonk, F.L. van de
Netea, M.G.
Hoischen, A.

January 2019

Contains fulltext : 204759.pdf (publisher's version ) (Open Access

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Diagnostic value of partial exome sequencing in developmental disorders.

Laura Gieldon
Luisa Mackenroth
Anne-Karin Kahlert
Johannes R Lemke
Joseph Porrmann
Jens Schallner
Maja von der Hagen
Susanne Markus
Sabine Weidensee
Barbara Novotna
Charlotte Soerensen
Barbara Klink
Johannes Wagner
Andreas Tzschach
Arne Jahn
Franziska Kuhlee
Karl Hackmann
Evelin Schrock
Nataliya Di Donato
Andreas Rump

January 2018

Although intellectual disability is one of the major indications for genetic counselling, there are ...

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

Item does not contain fulltextBACKGROUND: The causes of intellectual disability remain largely unkno...

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon (5616821)
Luisa Mackenroth (3140664)
Anne-Karin Kahlert (4796442)
Johannes R. Lemke (3175583)
Joseph Porrmann (5616824)
Jens Schallner (5616827)
Maja von der Hagen (702743)
Susanne Markus (5616830)
Sabine Weidensee (5616833)
Barbara Novotna (5616836)
Charlotte Soerensen (5616839)
Barbara Klink (391506)
Johannes Wagner (166010)
Andreas Tzschach (2742220)
Arne Jahn (5616842)
Franziska Kuhlee (5616845)
Karl Hackmann (463518)
Evelin Schrock (63043)
Nataliya Di Donato (3862924)
Andreas Rump (464038)

August 2018

<div><p>Although intellectual disability is one of the major indications for genetic counselling, th...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

Veltra, D. Tilemis, F.-N. Marinakis, N.M. Svingou, M. Mitrakos, A. Kosma, K. Tsoutsou, I. Makrythanasis, P. Theodorou, V. Katsalouli, M. Vorgia, P. Niotakis, G. Vartzelis, G. Dinopoulos, A. Evangeliou, A. Mouskou, S. Korona, A. Mastroyianni, S. Papavasiliou, A. Tzetis, M. Pons, R. Traeger-Synodinos, J. Sofocleous, C.

January 2023

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve gene...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P.
Simons, A.
AlZahrani, Mofareh S.
Yilmaz, Elanur
AlIdrissi, Eman
Aerde, K.J. van
Bleeker-Rovers, C.P.
Deuren, M. van
Flier, M. van der
Gilissen, C.
Hehir-Kwa, J.Y.
Henriet, S.S.
Hoppenreijs, E.P.
MacKenzie, M.A.
Mensenkamp, A.R.
Nelen, M.R.
Oever, J. ten
Schuurs-Hoeijmakers, J.H.M.
Simon, A.
Vorst, M. van de
Veltman, J.A.
Zelst-Stams, W.A.G. van
Veerdonk, F.L. van de
Netea, M.G.
Hoischen, A.

January 2019

Contains fulltext : 204759.pdf (publisher's version ) (Open Access

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Diagnostic value of partial exome sequencing in developmental disorders.

Laura Gieldon
Luisa Mackenroth
Anne-Karin Kahlert
Johannes R Lemke
Joseph Porrmann
Jens Schallner
Maja von der Hagen
Susanne Markus
Sabine Weidensee
Barbara Novotna
Charlotte Soerensen
Barbara Klink
Johannes Wagner
Andreas Tzschach
Arne Jahn
Franziska Kuhlee
Karl Hackmann
Evelin Schrock
Nataliya Di Donato
Andreas Rump

January 2018

Although intellectual disability is one of the major indications for genetic counselling, there are ...

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

Item does not contain fulltextBACKGROUND: The causes of intellectual disability remain largely unkno...

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon (5616821)
Luisa Mackenroth (3140664)
Anne-Karin Kahlert (4796442)
Johannes R. Lemke (3175583)
Joseph Porrmann (5616824)
Jens Schallner (5616827)
Maja von der Hagen (702743)
Susanne Markus (5616830)
Sabine Weidensee (5616833)
Barbara Novotna (5616836)
Charlotte Soerensen (5616839)
Barbara Klink (391506)
Johannes Wagner (166010)
Andreas Tzschach (2742220)
Arne Jahn (5616842)
Franziska Kuhlee (5616845)
Karl Hackmann (463518)
Evelin Schrock (63043)
Nataliya Di Donato (3862924)
Andreas Rump (464038)

August 2018

<div><p>Although intellectual disability is one of the major indications for genetic counselling, th...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

Veltra, D. Tilemis, F.-N. Marinakis, N.M. Svingou, M. Mitrakos, A. Kosma, K. Tsoutsou, I. Makrythanasis, P. Theodorou, V. Katsalouli, M. Vorgia, P. Niotakis, G. Vartzelis, G. Dinopoulos, A. Evangeliou, A. Mouskou, S. Korona, A. Mastroyianni, S. Papavasiliou, A. Tzetis, M. Pons, R. Traeger-Synodinos, J. Sofocleous, C.

January 2023

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve gene...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, Francesca M.
van Ool, Jans S.
Verhoeven, Judith S.
van Mierlo, Petra
Braakman, Hilde M. H.
Smeets, Eric E.
Nicolai, Joost
Schoots, Jeroen
Teunissen, Mariel W. A.
Rouhl, Rob P. W.
Tan, In Y.
Yntema, Helger G.
Brunner, Han G.
Pfundt, Rolph
Stegmann, Alexander P.
Kamsteeg, Erik-Jan
Schelhaas, Helenius J.
Willemsen, Marjolein H.

January 2019

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure...

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P.
Simons, A.
AlZahrani, Mofareh S.
Yilmaz, Elanur
AlIdrissi, Eman
Aerde, K.J. van
Bleeker-Rovers, C.P.
Deuren, M. van
Flier, M. van der
Gilissen, C.
Hehir-Kwa, J.Y.
Henriet, S.S.
Hoppenreijs, E.P.
MacKenzie, M.A.
Mensenkamp, A.R.
Nelen, M.R.
Oever, J. ten
Schuurs-Hoeijmakers, J.H.M.
Simon, A.
Vorst, M. van de
Veltman, J.A.
Zelst-Stams, W.A.G. van
Veerdonk, F.L. van de
Netea, M.G.
Hoischen, A.

January 2019

Contains fulltext : 204759.pdf (publisher's version ) (Open Access

Additional file 1: Table S1. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Genetic tests performed during the diagnostic work-up of the study participants. (DOC 55 kb

Diagnostic value of partial exome sequencing in developmental disorders.

Laura Gieldon
Luisa Mackenroth
Anne-Karin Kahlert
Johannes R Lemke
Joseph Porrmann
Jens Schallner
Maja von der Hagen
Susanne Markus
Sabine Weidensee
Barbara Novotna
Charlotte Soerensen
Barbara Klink
Johannes Wagner
Andreas Tzschach
Arne Jahn
Franziska Kuhlee
Karl Hackmann
Evelin Schrock
Nataliya Di Donato
Andreas Rump

January 2018

Although intellectual disability is one of the major indications for genetic counselling, there are ...

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

Item does not contain fulltextBACKGROUND: The causes of intellectual disability remain largely unkno...

Diagnostic value of partial exome sequencing in developmental disorders

Laura Gieldon (5616821)
Luisa Mackenroth (3140664)
Anne-Karin Kahlert (4796442)
Johannes R. Lemke (3175583)
Joseph Porrmann (5616824)
Jens Schallner (5616827)
Maja von der Hagen (702743)
Susanne Markus (5616830)
Sabine Weidensee (5616833)
Barbara Novotna (5616836)
Charlotte Soerensen (5616839)
Barbara Klink (391506)
Johannes Wagner (166010)
Andreas Tzschach (2742220)
Arne Jahn (5616842)
Franziska Kuhlee (5616845)
Karl Hackmann (463518)
Evelin Schrock (63043)
Nataliya Di Donato (3862924)
Andreas Rump (464038)

August 2018

<div><p>Although intellectual disability is one of the major indications for genetic counselling, th...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Thevenon, Julien
Duffourd, Yannis
Masurel-Paulet, Alice
Lefebvre, M.,
Feillet, François
El Chehadeh-Djebbar, S.
Saint-Onge, Judith
Steinmetz, A.
Huet, Frédéric
Chouchane, M.
Darmency-Stamboul, V.
Callier, Patrick
Thauvin-Robinet, Christel
Faivre, Laurence
Rivière, Jean-Baptiste

June 2016

International audienceThe current standard of care for diagnosis of severe intellectual disability (...

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

Veltra, D. Tilemis, F.-N. Marinakis, N.M. Svingou, M. Mitrakos, A. Kosma, K. Tsoutsou, I. Makrythanasis, P. Theodorou, V. Katsalouli, M. Vorgia, P. Niotakis, G. Vartzelis, G. Dinopoulos, A. Evangeliou, A. Mouskou, S. Korona, A. Mastroyianni, S. Papavasiliou, A. Tzetis, M. Pons, R. Traeger-Synodinos, J. Sofocleous, C.

January 2023

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve gene...

Additional file 3: Table S3. of Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump (3536780)
Omid Jazayeri (3536789)
Krista van Dijk-Bos (3536774)
Lennart Johansson (3009453)
Anthonie van Essen (3536792)
Johanna Verheij (3536795)
Hermine Veenstra-Knol (3536771)
Egbert Redeker (3536786)
Marcel Mannens (3459431)
Morris Swertz (383290)
Behrooz Alizadeh (3503549)
Conny van Ravenswaaij-Arts (3419003)
Richard Sinke (3536777)
Birgit Sikkema-Raddatz (3536783)

February 2016

Overview of the number of variants detected at each filter step for each patient. (DOC 128 kb

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J.
Willemsen, M.H.
van Bon, B.W.
Kleefstra, T.
Yntema, H.G.
Kroes, T.
Vulto-van Silfhout, A.T.
Koolen, D.A.
de Vries, P.
Gilissen, C.F.H.A.
del Rosario, M.
Hoischen, A.
Scheffer, H.
Vries, L.B.A. de
Brunner, H.G.
Veltman, J.A.
Peart-Vissers, L.E.L.M.

January 2012

BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinic...

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Abstract

Extracted data

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Abstract

Extracted data

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