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A. Gregor · SciRah

Researcher profile · Semantic Scholar

A. Gregor

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A. Gregor — researcher profile on SciRah

h-index: 17
Works: 42
Citations: 1,293

Most-cited papers

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
M. Zweier, A. Gregor, C. Zweier, H. Engels +14 more
2010Human Mutation173 citations Open access
Semantic Scholar
De novo mutations in the genome organizer CTCF cause intellectual disability.
A. Gregor, M. Oti, Evelyn N. Kouwenhoven, J. Hoyer +10 more
2013American Journal of Human Genetics160 citations Open access
Semantic Scholar
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
A. Gregor, B. Albrecht, I. Bader, E. Bijlsma +17 more
2011BMC Medical Genetics129 citations Open access
Semantic Scholar
Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing
Rea M. Lardelli, A. Schaffer, V. Eggens, M. Zaki +55 more
2017Nature Genetics88 citations Open access
Semantic Scholar
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
S. Haskamp, H. Bruns, Madelaine Hahn, M. Hoffmann +32 more
2020American Journal of Human Genetics79 citations Open access
Semantic Scholar
Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors
Hong-Da Li, L. Saucedo-Cuevas, Ling Yuan, Danica Ross +16 more
2019Neuron72 citations Open access
Semantic Scholar
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Jonas Straub, Enrico D H Konrad, Johanna Grüner, A. Toutain +24 more
2018American Journal of Human Genetics69 citations Open access
Semantic Scholar
Clinical delineation of the PACS1‐related syndrome—Report on 19 patients
J. Schuurs-Hoeijmakers, M. Landsverk, N. Foulds, M. Kukolich +34 more
2016American Journal of Medical Genetics. Part A67 citations Open access
Semantic Scholar
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport, B. Boisson, A. Gregor, V. Béziat +12 more
2021Proceedings of the National Academy of Sciences of the United States of America62 citations Open access
Semantic Scholar
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Enrico D H Konrad, Niels Nardini, A. Caliebe, I. Nagel +59 more
2019Genetics in Medicine55 citations Open access
Semantic Scholar
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
I. Marín-Valencia, Andreas Gerondopoulos, M. Zaki, T. Ben-Omran +14 more
2017American Journal of Human Genetics51 citations Open access
Semantic Scholar
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
A. Gregor, L. Sadleir, Reza Asadollahi, S. Azzarello-Burri +44 more
2018American Journal of Human Genetics40 citations Open access
Semantic Scholar
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila
A. Gregor, Jamie M. Kramer, M. van der Voet, I. Schanze +5 more
2014Human Mutation31 citations
Semantic Scholar
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Daniel L. Polla, E. Bhoj, J. Verheij, J. S. Klein Wassink-Ruiter +28 more
2020Genetics in Medicine30 citations Open access
Semantic Scholar
Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome
Alicia Guemez-Gamboa, A. Çağlayan, Valentina Stanley, A. Gregor +31 more
2018Annals of Neurology25 citations Open access
Semantic Scholar
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
D. Cheerie, M. Meserve, D. Beijer, Charu Kaiwar +35 more
2025American Journal of Human Genetics21 citations Open access
Semantic Scholar
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Anna Fliedner, Philipp Kirchner, Antje Wiesener, I. van de Beek +31 more
2020American Journal of Human Genetics19 citations Open access
Semantic Scholar
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
F. Langhammer, R. Maroofian, Rueda Badar, A. Gregor +60 more
2023Genetics in Medicine16 citations Open access
Semantic Scholar
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Cosima M. Schmid, A. Gregor, G. Costain, Chantal F. Morel +25 more
2023Genetics in Medicine15 citations
Semantic Scholar
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
Jonas Straub, A. Gregor, Tatjana Sauerer, Anna Fliedner +5 more
2020Scientific Reports13 citations Open access
Semantic Scholar
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
A. Gregor, Tanja Meerbrei, T. Gerstner, A. Toutain +39 more
2021Human Molecular Genetics11 citations Open access
Semantic Scholar
Loss of PHF6 leads to aberrant development of human neuron-like cells
Anna Fliedner, A. Gregor, F. Ferrazzi, A. Ekici +2 more
2020Scientific Reports10 citations Open access
Semantic Scholar
Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy
F. Langhammer, A. Gregor, Niels R. Ntamati, A. Ekici +3 more
2025Human Molecular Genetics8 citations Open access
Semantic Scholar
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M. Beaman, L. Guidugli, M. Hammer, Chelsea Barrows +10 more
2023American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Dandy–Walker Malformation, Genitourinary Abnormalities, and Intellectual Disability in Two Families
M. Zaki, Amira T. Masri, A. Gregor, J. Gleeson +1 more
2015American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
A. Gregor, Mandy Krumbiegel, C. Kraus, A. Reis +1 more
2012American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model
M. Christen, A. Gregor, R. Gutiérrez-Quintana, J. Bongers +6 more
2024Scientific Reports7 citations Open access
Semantic Scholar
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M. Schmid, A. Gregor, A. Ruiz, Carmen Manso Bazús +77 more
2024European Journal of Human Genetics5 citations Open access
Semantic Scholar
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Lachlan de Hayr, Laura E R Blok, Kerith-Rae Dias, Jingyi Long +33 more
2024Genetics in Medicine4 citations Open access
Semantic Scholar
Clinical delineation of the PACS1-related Syndrome
Jhm Schuurs-Hoeijmakers, M. Landsverk, N. Foulds, M. Kukolich +33 more
20153 citations
Semantic Scholar
De Novo Splice‐Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal–Hreidarsson Syndrome
D. Braun, A. Gregor, M. Haubitz, G. Baerlocher +3 more
2025American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Heterozygous loss of SRRM1 may be associated with neurodevelopmental phenotypes and anomalies in cell growth and neurite morphology
M. Altay, A. Gregor, D. Braun, C. Rieubland +8 more
2025European Journal of Human Genetics2 citations Open access
Semantic Scholar
Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Franck Rapaport, B. Boisson, A. Gregor, V. Béziat +12 more
2020bioRxiv2 citations Open access
Semantic Scholar
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke, E. Bacchelli +86 more
2026European Journal of Human Genetics1 citations Open access
Semantic Scholar
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency
A. Gregor, Laila Distel, A. B. Ekici, Philipp Kirchner +5 more
2025HGG advances1 citations Open access
Semantic Scholar
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems
A. Gregor, C. Zweier
2024Medizinische Genetik1 citations Open access
Semantic Scholar
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
D. Cheerie, M. Meserve, D. Beijer, C. Kaiwar +35 more
2024medRxiv1 citations Open access
Semantic Scholar
De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
Rebecca Fluri, Mireia Coll-Tané, T. Brunet, B. Cogné +37 more
2026medRxiv0 citations Open access
Semantic Scholar
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema “Modellsysteme für neuronale Entwicklungsstörungen”
A. Gregor
2024Medizinische Genetik0 citations Open access
Semantic Scholar
Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1
Jhm Schuurs-Hoeijmakers, M. Landsverk, N. Foulds, M. Kukolich +33 more
20170 citations
Semantic Scholar
Investigating the possible relevance of a stop mutation in ERC2
A. Gregor, K. Devriendt, A. Reis, A. Rauch +2 more
20110 citations
Semantic Scholar
In-depth characterization of 14 patients with deletions of 5q14.3-q15: Is MEF2C the whole story?
A. M. Zink, M. Zweier, E. Wohlleber, M. Born +17 more
20110 citations
Semantic Scholar

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