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Switzerland, Germany, United States

Activities

Employment (4)

Inselspital Universitätsspital Bern: Bern, BE, CH

2021-02-01 to present | Senior Researcher (Department of Human Genetics)
Employment
Source: Self-asserted source
Anne Gregor

University Hospital Erlangen: Erlangen, DE

2018-02-01 to 2020-12-31 | PostDoc (Institute of Human Genetics)
Employment
Source: Self-asserted source
Anne Gregor

Rockefeller University: New York, NY, US

2014-01-01 to 2017-12-31 | PostDoc (Laboratory of Pediatric Brain Disease)
Employment
Source: Self-asserted source
Anne Gregor

University Hospital Erlangen: Erlangen, DE

2010-01-01 to 2014-12-31 | PhD student (Institute of Human Genetics)
Employment
Source: Self-asserted source
Anne Gregor

Education and qualifications (1)

University Hospital Erlangen: Erlangen, DE

2010-01-01 to 2014-07-02 | Dr.rer.nat. (Institute of Human Genetics)
Education
Source: Self-asserted source
Anne Gregor

Professional activities (1)

Deutsche Gesellschaft für Humangenetik: Berlin, DE

2023-03-17 | Vortragspreis GfH Tagung 2023
Distinction
Source: Self-asserted source
Anne Gregor

Funding (4)

Modelling LHX2-associated neurodevelopmental disorder in human brain organoids

2022-01 to 2023-06 | Grant
Bern Center for Precision Medicine, University of Bern (Bern, CH)
Source: Self-asserted source
Anne Gregor

The role of protein degradation in FBXO11-related intellectual disability (Degradation_ID)

2019-07 to 2021-07 | Award
H2020 Marie Skłodowska-Curie Actions (Erlangen, DE)
Source: Self-asserted source
Anne Gregor

Characterizing the role of FBXO11 and ubiquitination and proteasomal degradation in intellectual disability

2018-12 to 2019-11 | Grant
ELAN - IZKF Universitätsklinikum Erlangen (Erlangen, DE)
Source: Self-asserted source
Anne Gregor

Elucidation of the pathogenesis of Dandy-Walker malformation

2015-01-01 to 2017-12-31 | Grant
Deutsche Forschungsgemeinschaft (Bonn, DE)
GRANT_NUMBER: 273224692
Source: Self-asserted source
Anne Gregor via DimensionsWizard

Works (27)

Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems

Medizinische Genetik
2024-06-05 | Journal article
Contributors: Anne Gregor; Christiane Zweier
Source: check_circle
Crossref

NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model

Scientific Reports
2024-02-05 | Journal article
Contributors: Matthias Christen; Anne Gregor; Rodrigo Gutierrez-Quintana; Jos Bongers; Angie Rupp; Jacques Penderis; G. Diane Shelton; Vidhya Jagannathan; Christiane Zweier; Tosso Leeb
Source: check_circle
Crossref

Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.

American journal of medical genetics. Part A
2023-08 | Journal article
Contributors: Beaman MM; Guidugli L; Hammer M; Barrows C; Gregor A; Lee S; Deak KL; McDonald MT; Jensen C; Zaki MS et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central
grade
Preferred source (of 2)‎

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
2023-05 | Journal article
Contributors: Langhammer F; Maroofian R; Badar R; Gregor A; Rochman M; Ratliff JB; Koopmans M; Herget T; Hempel M; Kortüm F et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
2023-04 | Journal article
Contributors: Schmid CM; Gregor A; Costain G; Morel CF; Massingham L; Schwab J; Quélin C; Faoucher M; Kaplan J; Procopio R et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Human molecular genetics
2022-02 | Journal article
Contributors: Gregor A; Meerbrei T; Gerstner T; Toutain A; Lynch SA; Stals K; Maxton C; Lemke JR; Bernat JA; Bombei HM et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central
grade
Preferred source (of 2)‎

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.

Proceedings of the National Academy of Sciences of the United States of America
2021-01 | Journal article
Contributors: Rapaport F; Boisson B; Gregor A; Béziat V; Boisson-Dupuis S; Bustamante J; Jouanguy E; Puel A; Rosain J; Zhang Q et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics
2020-11 | Journal article
Contributors: Polla DL; Bhoj EJ; Verheij JBGM; Wassink-Ruiter JSK; Reis A; Deshpande C; Gregor A; Hill-Karfe K; Silfhout ATV; Pfundt R et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Scientific reports
2020-11 | Journal article
Contributors: Fliedner A; Gregor A; Ferrazzi F; Ekici AB; Sticht H; Zweier C
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

American journal of human genetics
2020-08 | Journal article
Contributors: Haskamp S; Bruns H; Hahn M; Hoffmann M; Gregor A; Löhr S; Hahn J; Schauer C; Ringer M; Flamann C et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

American journal of human genetics
2020-07 | Journal article
Contributors: Fliedner A; Kirchner P; Wiesener A; van de Beek I; Waisfisz Q; van Haelst M; Scott DA; Lalani SR; Rosenfeld JA; Azamian MS et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

2020-02-08 | Preprint
Contributors: Franck Rapaport; Bertrand Boisson; Anne Gregor; Vivien Béziat; Stephanie Boisson-Dupuis; Jacinta Bustamante; Emmanuelle Jouanguy; Anne Puel; Jeremie Rosain; Qian Zhang et al.
Source: check_circle
Crossref

Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.

Scientific reports
2020-01 | Journal article
Contributors: Straub J; Gregor A; Sauerer T; Fliedner A; Distel L; Suchy C; Ekici AB; Ferrazzi F; Zweier C
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics
2019-06 | Journal article
Contributors: Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors.

Neuron
2019-01 | Journal article
Contributors: Li H; Saucedo-Cuevas L; Yuan L; Ross D; Johansen A; Sands D; Stanley V; Guemez-Gamboa A; Gregor A; Evans T et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

Annals of neurology
2018-10 | Journal article
Contributors: Guemez-Gamboa A; Çağlayan AO; Stanley V; Gregor A; Zaki MS; Saleem SN; Musaev D; McEvoy-Venneri J; Belandres D; Akizu N et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

American journal of human genetics
2018-07 | Journal article
Contributors: Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

American journal of human genetics
2017-12 | Journal article
Contributors: Straub J; Konrad EDH; Grüner J; Toutain A; Bok LA; Cho MT; Crawford HP; Dubbs H; Douglas G; Jobling R et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

American journal of human genetics
2017-08 | Journal article
Contributors: Marin-Valencia I; Gerondopoulos A; Zaki MS; Ben-Omran T; Almureikhi M; Demir E; Guemez-Gamboa A; Gregor A; Issa MY; Appelhof B et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Nature genetics
2017-01 | Journal article
Contributors: Lardelli RM; Schaffer AE; Eggens VR; Zaki MS; Grainger S; Sathe S; Van Nostrand EL; Schlachetzki Z; Rosti B; Akizu N et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

American journal of medical genetics. Part A
2016-02 | Journal article
Contributors: Schuurs-Hoeijmakers JH; Landsverk ML; Foulds N; Kukolich MK; Gavrilova RH; Greville-Heygate S; Hanson-Kahn A; Bernstein JA; Glass J; Chitayat D et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

American journal of medical genetics. Part A
2015-06 | Journal article
Contributors: Zaki MS; Masri A; Gregor A; Gleeson JG; Rosti RO
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila.

Human mutation
2014-12 | Journal article
Contributors: Gregor A; Kramer JM; van der Voet M; Schanze I; Uebe S; Donders R; Reis A; Schenck A; Zweier C
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

De novo mutations in the genome organizer CTCF cause intellectual disability.

American journal of human genetics
2013-06 | Journal article
Contributors: Gregor A; Oti M; Kouwenhoven EN; Hoyer J; Sticht H; Ekici AB; Kjaergaard S; Rauch A; Stunnenberg HG; Uebe S et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

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.

American journal of medical genetics. Part A
2012-06 | Journal article
Contributors: Gregor A; Krumbiegel M; Kraus C; Reis A; Zweier C
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

BMC medical genetics
2011-08 | Journal article
Contributors: Gregor A; Albrecht B; Bader I; Bijlsma EK; Ekici AB; Engels H; Hackmann K; Horn D; Hoyer J; Klapecki J et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Human mutation
2010-06 | Journal article
Contributors: Zweier M; Gregor A; Zweier C; Engels H; Sticht H; Wohlleber E; Bijlsma EK; Holder SE; Zenker M; Rossier E et al.
Source: Self-asserted source
Anne Gregor via Europe PubMed Central

Peer review (2 reviews for 2 publications/grants)

Review activity for Journal of human genetics. (1)
Review activity for neurogenetics (1)