Daniela Schweitzer
Overview
Explore the profile of Daniela Schweitzer including associated specialties, affiliations and a list of published articles.
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5
Citations
23
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Recent Articles
1.
Pisan E, De Luca C, Brancati F, Russo R, Li D, Bhoj E, et al.
Proc Natl Acad Sci U S A
. 2024 Mar;
121(12):e2317601121.
PMID: 38466850
No abstract available.
2.
Schmid C, Gregor A, Costain G, Morel C, Massingham L, Schwab J, et al.
Genet Med
. 2023 Apr;
25(7):100839.
PMID: 37057675
Purpose: LHX2 encodes the LIM homeobox 2 transcription factor (LHX2), which is highly expressed in brain and well conserved across species, but it has not been clearly linked to neurodevelopmental...
3.
Hildebrandt C, Patel N, Graham Jr J, Bamshad M, Nickerson D, White J, et al.
Am J Med Genet A
. 2021 Mar;
185(7):2136-2149.
PMID: 33783941
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We...
4.
Gardner O, Haynes K, Schweitzer D, Johns A, Magee W, Urata M, et al.
Cleft Palate Craniofac J
. 2016 Jun;
54(6):739-748.
PMID: 27356087
We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared...
5.
Costa M, Borzabadi-Farahani A, Lara-Sanchez P, Schweitzer D, Jacobson L, Clarke N, et al.
J Craniomaxillofac Surg
. 2013 Aug;
42(4):290-6.
PMID: 23969147
Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum...