INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2041-1723

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex ; volume:13 ; number:1 ; day:13 ; month:10 ; year:2022 ; pages:1-17 ; date:12.2022
Nature Communications ; 13, Heft 1 (13.10.2022), 1-17, 12.2022

Creator: Mascibroda, Lauren G.
Shboul, Mohammad
Elrod, Nathan D.
Colleaux, Laurence
Hamamy, Hanan
Huang, Kai-Lieh
Peart, Natoya
Singh, Moirangthem Kiran
Lee, Hane
Merriman, Barry
Jodoin, Jeanne N.
Sitaram, Poojitha
Lee, Laura A.
Fathalla, Raja
Al-Rawashdeh, Baeth
Ababneh, Osama
El-Khateeb, Mohammad
Escande-Beillard, Nathalie
Nelson, Stanley F.
Wu, Yixuan
Tong, Liang
Kenney, Linda J.
Roy, Sudipto
Russell, William K.
Amiel, Jeanne
Reversade, Bruno
Wagner, Eric J.

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41467-022-33547-8

URN: urn:nbn:de:101:1-2022123021094022001191

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 AM CEST

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Associated

Mascibroda, Lauren G.
Shboul, Mohammad
Elrod, Nathan D.
Colleaux, Laurence
Hamamy, Hanan
Huang, Kai-Lieh
Peart, Natoya
Singh, Moirangthem Kiran
Lee, Hane
Merriman, Barry
Jodoin, Jeanne N.
Sitaram, Poojitha
Lee, Laura A.
Fathalla, Raja
Al-Rawashdeh, Baeth
Ababneh, Osama
El-Khateeb, Mohammad
Escande-Beillard, Nathalie
Nelson, Stanley F.
Wu, Yixuan
Tong, Liang
Kenney, Linda J.
Roy, Sudipto
Russell, William K.
Amiel, Jeanne
Reversade, Bruno
Wagner, Eric J.
SpringerLink (Online service)

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

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Other Objects (12)

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Integrator

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Mathematical integrators

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

11. Hydrachna Integrator.

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Keynote: The Super Integrator

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Integrator

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Mathematical integrators

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

11. Hydrachna Integrator.

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Keynote: The Super Integrator

Exon identity crisis: disease-causing mutations that disrupt the splicing code

Integrator

Mutations in the gene MEGF10 causing a recessive congenital multiminicore myopathy

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy

Mathematical integrators

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

11. Hydrachna Integrator.

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Keynote: The Super Integrator

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