Author details

Full Name

Isabel Filges

Affiliation

University Hospital Basel and University of Basel

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36750051	Fetal hyperechogenic kidneys: the significance of family assessment.	Ultraschall Med	2023
36588183	Fetal arthrogryposis-what do we tell the prospective parents?	Prenat Diagn	2023
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
34346154	Expanding the KIF4A-associated phenotype.	Am J Med Genet A	2021
33532242	Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).	Mol Genet Metab Rep	2021
34899145	Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.	Mol Syndromol	2021
34488686	The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.	BMC Pediatr	2021
34159400	Genome sequencing in families with congenital limb malformations.	Hum Genet	2021
34214293	How genomics is changing the practice of prenatal testing.	J Perinat Med	2021
31488893	CUGC for Stromme syndrome and CENPF-related disorders.	Eur J Hum Genet	2020
32100971	Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephaly.	Mol Genet Genomic Med	2020
32430361	'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.	J Med Genet	2020
32259861	Dual independent genetic etiologies in a lethal complex malformation phenotype.	Ultraschall Med	2020
30388224	Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.	Hum Mol Genet	2019
31318155	Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.	Am J Med Genet C Semin Med Genet	2019
30679815	Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.	Eur J Hum Genet	2019
30551226	A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa.	Ultraschall Med	2018
28543167	A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.	Prenat Diagn	2017
26820108	StrÃ¸mme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.	Hum Mutat	2016
27980676	Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?	Mol Cytogenet	2016
27300082	StrÃ¸mme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.	Hum Mutat	2016
25131214	Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.	Clin Genet	2015
26421060	Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?	Mol Cytogenet	2015
26468769	An Appeal for Ultrasound and Current Guidelines.	Ultraschall Med	2015
26759849	Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities.	Ultraschall Med	2015
25504873	Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.	Mol Hum Reprod	2015
25046514	Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.	Prenat Diagn	2015
24128419	Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.	Clin Genet	2014
24891046	Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.	Am J Med Genet A	2014
24458548	Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.	Am J Med Genet A	2014
23296716	Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.	Prenat Diagn	2013
27605194	Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?	Microarrays (Basel)	2013
22127049	TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.	Clin Dysmorphol	2012
22979998	Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.	Mol Cytogenet	2012
22847820	We are failing to identify disorders of fetal movement--why?	Prenat Diagn	2012
22240311	High resolution array in the clinical approach to chromosomal phenotypes.	Gene	2012
22232309	Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.	Pediatrics	2012
22366787	Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.	Nat Genet	2012
21091464	Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.	Clin Genet	2011
21868002	A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.	Fertil Steril	2011
21705736	Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography.	J Ultrasound Med	2011
21351283	aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis.	Prenat Diagn	2011
21037274	Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.	J Med Genet	2011
20358614	Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.	Am J Med Genet A	2010
21179565	Microarray-based maps of copy-number variant regions in European and sub-Saharan populations.	PLoS One	2010
19161139	Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.	Am J Med Genet A	2009
18629875	Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.	Am J Med Genet A	2008
18924172	Mosaic ring chromosome 8: clinical and array-CGH findings in partial trisomy 8.	Am J Med Genet A	2008
15991626	[Present chemoprevention and future vision].	Rev Med Suisse	2005
11857745	A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.	Hum Mutat	2002

1 - 50 of 50

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 3

Richard H Scott

Great Ormond Street Hospital

Career Start Year 2006

Number of shared co-authors 7

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 9

Sofia Douzgou

Haukeland University Hospital

Career Start Year 2004

Number of shared co-authors 15

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 16

Soo-Mi Park

Cambridge University Hospital, NHS Foundation Trust

Career Start Year 2002

Number of shared co-authors 7

Caroline Astbury

Pathology and Laboratory Medicine Institute, Cleveland Clinic

Career Start Year 2001

Number of shared co-authors 1

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 8

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 5

Vernon R Sutton

Baylor College of Medicine

Career Start Year 1997

Number of shared co-authors 5

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 5

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 11

Nicole de Leeuw

Radboud University Medical Center

Career Start Year 1996

Number of shared co-authors 12

Dominic J McMullan

Birmingham Women's and Children's NHS Foundation Trust

Career Start Year 1995

Number of shared co-authors 8

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 12

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 8

Bert B A de Vries

Radboud University Medical Center

Career Start Year 1992

Number of shared co-authors 18

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 11

Helen V Firth

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals

Career Start Year 1990

Number of shared co-authors 13

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 5

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 12

Laura K Conlin

Children's Hospital of Philadelphia

Career Start Year 1989

Number of shared co-authors 0

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 13

Isabel K Temple

University of Southampton

Career Start Year 1988

Number of shared co-authors 7

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 16

Sylvie Langlois

Research Center, Centre Hospitalier Universitaire Sainte-Justine

Career Start Year 1987

Number of shared co-authors 1

Nancy B Spinner

The Perelman School of Medicine at the University of Pennsylvania

Career Start Year 1984

Number of shared co-authors 3

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 11

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 11

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 13

row(s) 1 - 30 of 30

Petter Str??mme

University of Oslo

Co-authored papers 3

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Co-authored papers 2

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 2

Andreas Dufke

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

Co-authored papers 2

Ferdinand Dhombres

Armand Trousseau Hospital, Sorbonne University

Co-authored papers 1

Roger Stupp

Northwestern University

Co-authored papers 1

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 1

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Yves Moreau

KU Leuven - University of Leuven

Co-authored papers 1

Sabrina Toro

University of Colorado Anschutz Medical Campus