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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

den Hoed, Joery ; de Boer, Elke ; Voisin, Norine ; [et al.]

Elsevier BV ; 2021

In: The American Journal of Human Genetics Vol. 108, No. 2 ( 2021-02), p. 346-356

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 108, No. 2 ( 2021-02), p. 346-356

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2021.01.007

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XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 1473813-2

SSG: 12

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Lelieveld, Stefan H. ; Wiel, Laurens ; Venselaar, Hanka ; [et al.]

Elsevier BV ; 2017

In: The American Journal of Human Genetics Vol. 101, No. 3 ( 2017-09), p. 478-484

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 101, No. 3 ( 2017-09), p. 478-484

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2017.08.004

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XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 1473813-2

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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

Wiel, Laurens ; Hampstead, Juliet E. ; Venselaar, Hanka ; [et al.]

Elsevier BV ; 2023

In: The American Journal of Human Genetics Vol. 110, No. 1 ( 2023-01), p. 92-104

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 110, No. 1 ( 2023-01), p. 92-104

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2022.12.001

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XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 1473813-2

SSG: 12

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Nabais Sá, Maria J. ; El Tekle, Geniver ; de Brouwer, Arjan P.M. ; [et al.]

Elsevier BV ; 2020

In: The American Journal of Human Genetics Vol. 106, No. 3 ( 2020-03), p. 405-411

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 106, No. 3 ( 2020-03), p. 405-411

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2020.02.001

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 1473813-2

SSG: 12

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