C P Schaaf
Overview
Explore the profile of C P Schaaf including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
9
Citations
134
Followers
0
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Recent Articles
1.
Illert A, Stenzinger A, Bitzer M, Horak P, Gaidzik V, Moller Y, et al.
Nat Med
. 2023 Jun;
29(6):1298-1301.
PMID: 37280276
No abstract available.
2.
Desai N, Kralik S, Edmond J, Shah V, Huisman T, Rech M, et al.
AJNR Am J Neuroradiol
. 2023 Jan;
44(2):212-217.
PMID: 36702506
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive...
3.
Rempel E, Kluck K, Beck S, Ourailidis I, Kazdal D, Neumann O, et al.
NPJ Precis Oncol
. 2022 Jun;
6(1):36.
PMID: 35681079
Homologous repair deficiency (HRD) is present in many cancer types at variable prevalence and can indicate response to platinum-based chemotherapy and PARP inhibition. We developed a tumor classification system based...
4.
Stussel L, Hollstein R, Laugsch M, Hochfeld L, Welzenbach J, Schroder J, et al.
J Dent Res
. 2021 Sep;
101(3):323-330.
PMID: 34528480
Nonsyndromic cleft lip with or without palate (nsCL/P) ranks among the most common human birth defects and has a multifactorial etiology. Human neural crest cells (hNCC) make a substantial contribution...
5.
Adams J, Schaaf C
Clin Genet
. 2017 Nov;
94(1):54-60.
PMID: 29120068
Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some...
6.
Fountain M, Tao H, Chen C, Yin J, Schaaf C
Genes Brain Behav
. 2017 Mar;
16(6):592-600.
PMID: 28296079
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome (PWS)-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM...
7.
Gillentine M, Berry L, Goin-Kochel R, Ali M, Ge J, Guffey D, et al.
J Autism Dev Disord
. 2017 Feb;
47(3):563.
PMID: 28168676
No abstract available.
8.
Gillentine M, Berry L, Goin-Kochel R, Ali M, Ge J, Guffey D, et al.
J Autism Dev Disord
. 2016 Nov;
47(3):549-562.
PMID: 27853923
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs),...
9.
Schaaf C, Scott D, Wiszniewska J, Beaudet A
Lancet
. 2011 Feb;
377(9765):555-6.
PMID: 21315943
No abstract available.