Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

C. Spaich · SciRah

Researcher profile · Semantic Scholar

C. Spaich

Share profile

C. Spaich — researcher profile on SciRah

h-index: 12
Works: 18
Citations: 1,204

Most-cited papers

Targeted next generation sequencing as a diagnostic tool in epileptic disorders
J. Lemke, E. Riesch, Tim Scheurenbrand, M. Schubach +27 more
2012Epilepsia338 citations
Semantic Scholar
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
A. Bohring, T. Stamm, C. Spaich, C. Haase +7 more
2009American Journal of Human Genetics235 citations Open access
Semantic Scholar
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
N. Sabherwal, F. Bangs, R. Röth, B. Weiß +9 more
2006Human Molecular Genetics120 citations
Semantic Scholar
Further delineation of the SATB2 phenotype
D. Döcker, M. Schubach, M. Menzel, M. Munz +3 more
2013European Journal of Human Genetics98 citations Open access
Semantic Scholar
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
J. Vandewalle, H. Van Esch, K. Govaerts, Jelle Verbeeck +11 more
2009American Journal of Human Genetics88 citations Open access
Semantic Scholar
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Aikaterini Dimopoulou, B. Fischer, T. Gardeitchik, Phillipe Schröter +27 more
2013Molecular Genetics and Metabolism65 citations
Semantic Scholar
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome “tiling path” BAC array in a girl with heart defect, cleft palate, and developmental delay
F. Erdogan, R. Ullmann, Wei Chen, Marei Schubert +6 more
2007American Journal of Medical Genetics. Part A59 citations
Semantic Scholar
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
G. Uyanik, D. Morris-Rosendahl, J. Stiegler, J. Klapecki +33 more
2007Neurology49 citations
Semantic Scholar
Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
May-Britt Harmsen, S. Azzarello-Burri, M. G. González, G. Gillessen-kaesbach +10 more
2009European Journal of Human Genetics45 citations Open access
Semantic Scholar
Segmental maternal UPD(7q) in Silver–Russell syndrome
T. Eggermann, Nadine Schönherr, S. Jäger, C. Spaich +3 more
2008Clinical Genetics37 citations
Semantic Scholar
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
S. Spengler, M. Begemann, Nadina Ortiz Brüchle, M. Baudis +11 more
2012Jornal de Pediatria35 citations
Semantic Scholar
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
D. Döcker, M. Schubach, M. Menzel, C. Spaich +4 more
2014European Journal of Human Genetics17 citations Open access
Semantic Scholar
Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl
G. Barbi, C. Spaich, S. Adolph, H. Kehrer-Sawatzki
2003Journal of Medical Genetics11 citations Open access
Semantic Scholar
Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 → q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay
G. Barbi, C. Spaich, S. Adolph, E. Rossier +1 more
2005American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].
P. Amrhein, C. Sittel, C. Spaich, J. Kohlhase +3 more
2014HNO (Berlin. Print)1 citations
Semantic Scholar
Neurofibromatosis-Noonan Syndrome Due to a Newly Occurred Microdeletion 17q11.2
N. Kienle, K. Marquard, M. Blankenburg, C. Spaich +1 more
20160 citations
Semantic Scholar
A recurrent copy number gain at Xq28 mediated by an unusual recombination results in a dosagedependent severity of the phenotype in patients with mental retardation
J. Vandewalle, V. Hilde, K. Govaerts, J. Verbeek +12 more
20100 citations
Semantic Scholar
A novel recurrent copy number gain at Xq28 in four MR families
H. Van Esch, J. Vandewalle, K. Govaerts, J. Verbeek +9 more
20090 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Rauch×4
Invite
A. Rauch — researcher profile on SciRah
M. Schubach×3
Invite
M. Schubach — researcher profile on SciRah
S. Biskup×3
Invite
S. Biskup — researcher profile on SciRah
J. Vandewalle×3
Invite
J. Vandewalle — researcher profile on SciRah

×3

Invite

K. Govaerts — researcher profile on SciRah

Invite

C. Zweier — researcher profile on SciRah

Invite

I. Madrigal — researcher profile on SciRah

Invite

E. Pijkels — researcher profile on SciRah

I. Fernández×3

Invite

I. Fernández — researcher profile on SciRah

Invite

J. Kohlhase — researcher profile on SciRah

Invite

S. Adolph — researcher profile on SciRah

Invite

D. Böhm — researcher profile on SciRah