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G. Barbi · SciRah

Researcher profile · Semantic Scholar

G. Barbi

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G. Barbi — researcher profile on SciRah

h-index: 20
Works: 79
Citations: 1,683

Most-cited papers

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D. Lessel, Bruno Vaz, Swagata Halder, P. Lockhart +33 more
2014Nature Genetics200 citations Open access
Semantic Scholar
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
D. Wöhrle, D. Kotzot, M. Hirst, A. Manca +6 more
1992American Journal of Human Genetics180 citations
Semantic Scholar
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2‐22.3 with a highly variable phenotype in female carriers
S. Chocholska, E. Rossier, G. Barbi, H. Kehrer-Sawatzki
2006American Journal of Medical Genetics. Part A74 citations
Semantic Scholar
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Olivier Hagens, A. Dubos, F. Abidi, G. Barbi +14 more
2005Human Genetics74 citations
Semantic Scholar
NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Julia Higelin, A. Catanese, Lena Luisa Semelink-Sedlacek, Sertap Oeztuerk +8 more
2018Stem Cell Research73 citations Open access
Semantic Scholar
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons
Julia Higelin, M. Demestre, S. Putz, J. P. Delling +13 more
2016Frontiers in Cellular Neuroscience73 citations Open access
Semantic Scholar
Rat Embryonic Fibroblasts Improve Reprogramming of Human Keratinocytes into Induced Pluripotent Stem Cells
L. Linta, M. Stockmann, K. Kleinhans, A. Böckers +7 more
2012Stem Cells and Development64 citations
Semantic Scholar
An excess of chromosome 1 breakpoints in male infertility
I. Bache, E. van Assche, S. Cingoz, M. Bugge +55 more
2004European Journal of Human Genetics61 citations
Semantic Scholar
Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child.
G. Barbi, J. Scheres, D. Schindler, R. Taalman +4 more
1991American journal of medical genetics52 citations
Semantic Scholar
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles
A. Lutz, Stefanie Pfaender, Berra Incearap, Valentin Ioannidis +24 more
2020Science Translational Medicine51 citations Open access
Semantic Scholar
"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?
R. Happle, G. Barbi, D. Eckert, I. Kennerknecht
1997Journal of Medical Genetics51 citations Open access
Semantic Scholar
Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation
A. Catanese, Florian Olde Heuvel, M. Mulaw, M. Demestre +7 more
2019Autophagy50 citations Open access
Semantic Scholar
Dup(1q)(q42-->qter) syndrome: case report and review of literature.
Ingo Kennerknecht, G. Barbi, K. Rodens
1993American journal of medical genetics38 citations
Semantic Scholar
Xp-duplications with and without sex reversal
A. Baumstark, G. Barbi, M. Djalali, C. Geerkens +7 more
2004Human Genetics33 citations
Semantic Scholar
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Naseebullah Kakar, Jamil Ahmad, D. Morris-Rosendahl, J. Altmuller +6 more
2014Human Genetics29 citations
Semantic Scholar
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development
Li-Tu Zhang, Z. Tümer, K. Møllgård, G. Barbi +8 more
2009European Journal of Human Genetics28 citations Open access
Semantic Scholar
Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites
G. Barbi, P. Steinbach, W. Vogel
2004Human Genetics26 citations
Semantic Scholar
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia
A. Serra, K. Eirich, A. Winkler, K. Mrasek +10 more
2012Molecular Syndromology23 citations Open access
Semantic Scholar
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
A. Tzschach, Corinna Menzel, F. Erdogan, Marei Schubert +6 more
2007American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma
Catharina Schuetz, G. Barbi, T. Barth, M. Hoenig +8 more
2007American Journal of Medical Genetics. Part A20 citations
Semantic Scholar
Diagnosis of retinoblastoma in a presymptomatic stage after detection of interstitial chromosomal deletion 13q.
I. Kennerknecht, G. Barbi, J. Greher
1994Ophthalmic Genetics19 citations
Semantic Scholar
Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p).
G. Barbi, Ingo Kennerknecht, C. Klett
1992American journal of medical genetics18 citations
Semantic Scholar
Mosaic trisomy 17 in amniotic fluid cells not confirmed in the newborn
M. Djalali, G. Barbi, D. Grab
1991Prenatal Diagnosis18 citations
Semantic Scholar
Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: a new autosomal recessive syndrome.
I. Kennerknecht, Petra von Saurma, R. Brenner, W. Just +8 more
1995American journal of medical genetics17 citations
Semantic Scholar
Folic acid sensitive fragile sites are not limited to the human karyotype. Demonstration of nonrandom gaps and breaks in the Persian vole Ellobius lutescens Th. inducible by methotrexate, fluorodeoxyuridine, and aphidicolin
M. Djalali, G. Barbi, P. Steinbach
1985Human Genetics17 citations
Semantic Scholar
On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression
P. Steinbach, G. Barbi, Th. Boller
2004Human Genetics16 citations
Semantic Scholar
Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype.
G. Barbi, I. Kennerknecht, G. Wöhr, D. Avramopoulos +2 more
2000American journal of medical genetics16 citations
Semantic Scholar
A case of apparent trisomy 21 without the Down's syndrome phenotype.
D. Avramopoulos, I. Kennerknecht, G. Barbi, D. Eckert +4 more
1997Journal of Medical Genetics16 citations Open access
Semantic Scholar
Familial pericentric inversion of chromosome 12
I. Voiculescu, G. Barbi, Gerhard Wolff, P. Steinbach +2 more
1986Human Genetics16 citations
Semantic Scholar
Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge
S. Bens, Manuel Luedeke, Tanja Richter, Melanie Graf +5 more
2017Clinical Epigenetics15 citations Open access
Semantic Scholar
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
M. Spielmann, Sylvie Marx, G. Barbi, Ricarda Flöttmann +6 more
2016American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies
B. Gläser, E. Rossier, G. Barbi, L. Chiaie +3 more
2003American Journal of Medical Genetics. Part A15 citations
Semantic Scholar
Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures
M. Djalali, G. Barbi, J. Mueller-Navia, M. Schneider +5 more
1998Prenatal Diagnosis15 citations
Semantic Scholar
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
G. Barbi, E. Rossier, S. Voßbeck, H. Hummler +6 more
2002Journal of Medical Genetics14 citations Open access
Semantic Scholar
Mapping immunoglobulin gene-related DNA probes to the central region of normal and pericentrically inverted human chromosome 2.
Andrea Lautner-Rieske, Horst Hameister, G. Barbi, Hans G. Zachau
1993Genomics14 citations
Semantic Scholar
Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature
H. Kehrer-Sawatzki, Eva Daumiller, J. Müller-Navia, H. Kendziorra +3 more
200513 citations
Semantic Scholar
False‐negative findings in chorionic villus sampling. An experimental approach and review of the literature
I. Kennerknecht, G. Barbi, M. Djalali, K. Mehnert +3 more
1998Prenatal Diagnosis13 citations
Semantic Scholar
Correlation between steroid hormone receptors and prognostic factors in human breast cancer.
G. Barbi, P. Marroni, P. Bruzzi, G. Nicoló +2 more
1987Oncology13 citations
Semantic Scholar
Evaluation of cathepsin D as prognostic predictor in breast cancer.
G. Barbi, E. Margallo, Marco Margiocco, Michela Paganuzzi +6 more
1994Oncology12 citations
Semantic Scholar
Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies
I. Kennerknecht, G. Barbi, M. Wolf, M. Djalali +3 more
1993Prenatal Diagnosis12 citations
Semantic Scholar
Maternal transmission of ring chromosome 21
I. Kennerknecht, G. Barbi, W. Vogel
1990Human Genetics12 citations
Semantic Scholar
Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature.
H. Kehrer-Sawatzki, Eva Daumiller, J. Müller-Navia, H. Kendziorra +3 more
2005Prenatal Diagnosis11 citations
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
X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation.
Wolfgang Preis, G. Barbi, S. Liptay, Ingo Kennerknecht +2 more
1996American journal of medical genetics11 citations
Semantic Scholar
Expression of the fragile site Xq27 in fibroblasts. I. Detection of Fra(X)(q27) in fibroblast clones from males with X-linked mental retardation
P. Steinbach, G. Barbi, S. Baur, A. Wiedenmann
2004Human Genetics10 citations
Semantic Scholar
XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome.
I. Kennerknecht, T. Mattfeldt, W. Paulus, Christiane Nitsch +5 more
1997American journal of medical genetics10 citations
Semantic Scholar
Uncommon chromosomal mosaicism in chorionic villi
I. Kennerknecht, G. Barbi, M. Djalali, W. Just +2 more
1991Prenatal Diagnosis10 citations
Semantic Scholar
Detailed marker chromosome analysis in cell line U‐BLC1, established from transitional‐cell carcinoma of the bladder
J. Bruch, Gudrun Wöhr, S. Brüderlein, G. Barbi +8 more
1999International Journal of Cancer8 citations Open access
Semantic Scholar
Mapping of Members of the Low-copy-number Repetitive DNA Sequence Family chAB4 within the p Arms of Human Acrocentric Chromosomes: Characterization of Robertsonian Translocations
H. Kehrer-Sawatzki, Gudrun Wöhr, W. Schempp, Ingrid Eisenbarth +2 more
1998Chromosome Research8 citations
Semantic Scholar
Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes
H. Seyschab, Detlev Schindler, R. Friedl, G. Barbi +10 more
1992European Journal of Pediatrics7 citations
Semantic Scholar

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W. Vogel×9
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H. Kehrer-Sawatzki×8
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M. Djalali×7
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E. Rossier — researcher profile on SciRah

P. Steinbach×5

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A. Ludolph — researcher profile on SciRah

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M. Demestre — researcher profile on SciRah

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