Sinje Geuer

Ingelheim Am Rhein, RP, Germany

Last Updated: 09/26/2026

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Found 11 publications

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease.

Journal: Klinische Padiatrie

Published: June 08, 2021

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.

Journal: JAMA ophthalmology

Published: January 28, 2021

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Journal: American journal of human genetics

Published: April 09, 2020

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 02, 2019

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects.

Journal: Scientific reports

Published: April 22, 2019

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.

Journal: Journal of inherited metabolic disease

Published: January 14, 2019

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Journal: American journal of human genetics

Published: February 24, 2018

Noncoding copy-number variations are associated with congenital limb malformation.

Noncoding copy-number variations are associated with congenital limb malformation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 12, 2017

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

Journal: American journal of human genetics

Published: October 10, 2016

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Journal: European journal of human genetics : EJHG

Published: October 02, 2016

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

Journal: Cell reports

Published: November 17, 2014

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Last Updated: 09/26/2026