Sandra C. Doelken

Berlin, BE, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

Clinical interpretation of CNVs with cross-species phenotype data.

Clinical interpretation of CNVs with cross-species phenotype data.

Journal: Journal of medical genetics

Published: October 05, 2014

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Journal: Science translational medicine

Published: September 05, 2014

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.

Journal: Orphanet journal of rare diseases

Published: March 26, 2014

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

Journal: F1000Research

Published: December 24, 2013

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Journal: Clinical genetics

Published: December 16, 2013

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Journal: Nucleic acids research

Published: November 13, 2013

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

Journal: Genome research

Published: September 03, 2013

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Journal: European journal of human genetics : EJHG

Published: May 30, 2013

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Journal: Journal of medical genetics

Published: May 28, 2013

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Journal: PLoS genetics

Published: March 12, 2013

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

Journal: Human mutation

Published: January 03, 2013

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.

Journal: Disease models & mechanisms

Published: October 30, 2012

Showing 1-12 of 17

Last Updated: 09/26/2026