Michaela Thoenes

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 13 publications

The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.

The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

Published: January 22, 2023

Generation of a set of isogenic iPSC lines carrying all APOE genetic variants (Ɛ2/Ɛ3/Ɛ4) and knock-out for the study of APOE biology in health and disease.

Generation of a set of isogenic iPSC lines carrying all APOE genetic variants (Ɛ2/Ɛ3/Ɛ4) and knock-out for the study of APOE biology in health and disease.

Journal: Stem cell research

Published: December 17, 2020

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Journal: Human molecular genetics

Published: May 25, 2017

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Journal: Frontiers in genetics

Published: September 15, 2016

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Journal: Human mutation

Published: December 09, 2015

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

Journal: Human mutation

Published: June 17, 2015

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

Journal: eLife

Published: April 13, 2015

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

Journal: Orphanet journal of rare diseases

Published: December 29, 2014

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Journal: Human molecular genetics

Published: October 16, 2014

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Journal: Human mutation

Published: May 28, 2014

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Journal: Orphanet journal of rare diseases

Published: September 25, 2013

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Journal: European journal of human genetics : EJHG

Published: February 07, 2013

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Last Updated: 09/26/2026