Author details

Full Name

Andreas Dufke

Affiliation

Institute of Medical Genetics and Applied Genomics, University of Tuebingen

ORCID

Career Start Year

2000

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34740919	Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplex.	J Med Genet	2023
37507557	Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.	Eur J Hum Genet	2023
37341686	Prenatal testing for Imprinting Disorders: A clinical perspective.	Prenat Diagn	2023
37340544	Prenatal testing for imprinting disorders: A laboratory perspective.	Prenat Diagn	2023
37196654	The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.	Am J Hum Genet	2023
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
35574990	A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.	Prenat Diagn	2022
36403095	Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.	Prenat Diagn	2022
34042264	New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.	Am J Med Genet A	2021
32470376	Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.	Am J Hum Genet	2020
32803851	Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qterâ¿¿q21.11::p23.3â¿¿qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.	Am J Med Genet A	2020
32877902	First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.	Fetal Diagn Ther	2020
29728705	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.	Mol Psychiatry	2019
31602191	Novel <i>HIVEP2</i> Variants in Patients with Intellectual Disability.	Mol Syndromol	2019
29541160	Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.	Mol Cytogenet	2018
30006928	The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.	Clin Genet	2018
28777491	Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.	Am J Med Genet A	2017
28346496	Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.	PLoS Genet	2017
28151755	Renal cystic disease and associated ciliopathies.	Curr Opin Obstet Gynecol	2017
25644381	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.	Mol Psychiatry	2016
27022934	Discordance between ultrasound and cell free DNA screening for monosomy X.	Arch Gynecol Obstet	2016
25641174	Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome.	Prenat Diagn	2015
26540129	Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.	Hamostaseologie	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
25649377	Next-generation sequencing in X-linked intellectual disability.	Eur J Hum Genet	2015
23763483	Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.	Clin Genet	2014
24801762	Genome-wide UPD screening in patients with intellectual disability.	Eur J Hum Genet	2014
22931061	Novel SLC9A6 mutations in two families with Christianson syndrome.	Clin Genet	2013
24176978	SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.	Brain	2013
24265580	Human Ring Chromosomes - New Insights for their Clinical Significance.	Balkan J Med Genet	2013
23589652	UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.	Bioinformatics	2013
22405089	Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.	Am J Hum Genet	2012
23161263	Position of the conus medullaris in fetuses with skeletal dysplasia.	Prenat Diagn	2012
23326255	Mirror-image asymmetry in monozygotic twins with kabuki syndrome.	Mol Syndromol	2012
23020937	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.	Lancet	2012
22844132	Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.	J Med Genet	2012
22516930	Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.	Cytogenet Genome Res	2012
22639460	Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.	Am J Med Genet A	2012
21271657	Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.	Am J Med Genet A	2011
21851937	De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature.	Fertil Steril	2011
21326285	De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.	Eur J Hum Genet	2011
20602484	The face of Noonan syndrome: Does phenotype predict genotype.	Am J Med Genet A	2010
20958825	Multiple sclerosis in association with Williams-Beuren syndrome.	J Paediatr Child Health	2010
19388127	Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.	Hum Mutat	2009
19617693	Mosaic trisomy 21/monosomy 21 in a living female infant.	Cytogenet Genome Res	2009
18211283	Efficient in vitro generation of adult multipotent cells from mobilized peripheral blood CD133+ cells.	Cell Prolif	2008
18506363	Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.	Int J Mol Med	2008
18326688	Mapping translocation breakpoints by next-generation sequencing.	Genome Res	2008
17165030	Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome.	Acta Neuropathol	2007
18253026	Specific transcriptional changes in human fetuses with autosomal trisomies.	Cytogenet Genome Res	2007

1 - 50 of 74

Pavel Tesner

2nd Medical Faculty of Charles University and University Hospital Motol

Career Start Year 2018

Number of shared co-authors 9

Hatip Aydin

Zeynep Kamil Maternity and Children's Training and Research Hospital

Career Start Year 2010

Number of shared co-authors 2

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 1

Richard H Scott

Great Ormond Street Hospital

Career Start Year 2006

Number of shared co-authors 19

Eva Klopocki

Institute for Human Genetics, University of Wurzburg

Career Start Year 2004

Number of shared co-authors 9

Tulay Tos

Sami Ulus Children's Hospital

Career Start Year 2003

Number of shared co-authors 0

David A Koolen

Donders Institute for Brain, Radboud University Medical Center

Career Start Year 2002

Number of shared co-authors 26

Caroline Astbury

Pathology and Laboratory Medicine Institute, Cleveland Clinic

Career Start Year 2001

Number of shared co-authors 4

Dragana Josifova

Guy's and St Thomas' Hospital

Career Start Year 2000

Number of shared co-authors 15

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 15

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 6

Luitgard Graul-Neumann

Charite Universitaetsmedizin Berlin

Career Start Year 1996

Number of shared co-authors 16

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 21

Shehla Mohammed

Guy's and St Thomas' NHS Foundation Trust

Career Start Year 1992

Number of shared co-authors 23

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 16

Felicity Collins

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

Career Start Year 1990

Number of shared co-authors 5

Anna Newlin

NorthShore University HealthSystem

Career Start Year 1990

Number of shared co-authors 1

Laura K Conlin

Children's Hospital of Philadelphia

Career Start Year 1989

Number of shared co-authors 4

Sally Ann Lynch

University College Dublin

Career Start Year 1989

Number of shared co-authors 23

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Career Start Year 1988

Number of shared co-authors 26

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Career Start Year 1987

Number of shared co-authors 17

Sylvie Langlois

Research Center, Centre Hospitalier Universitaire Sainte-Justine

Career Start Year 1987

Number of shared co-authors 3

Carol L Clericuzio

University of New Mexico Health Sciences Center

Career Start Year 1986

Number of shared co-authors 9

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 21

Nancy B Spinner

The Perelman School of Medicine at the University of Pennsylvania

Career Start Year 1984

Number of shared co-authors 6

Yoshimitsu Fukushima

Nippon Medical School

Career Start Year 1981

Number of shared co-authors 1

Urvashi Surti

University of Pittsburgh

Career Start Year 1978

Number of shared co-authors 3

David H Ledbetter

University of Florida, College of Medicine-Jacksonville

Career Start Year 1976

Number of shared co-authors 15

Elaine H Zackai

Children's Hospital of Philadelphia

Career Start Year 1972

Number of shared co-authors 26

Norio Niikawa

Health Sciences University of Hokkaido

Career Start Year 1972

Number of shared co-authors 3

row(s) 1 - 30 of 30

Stephan Ossowski

Institute of Medical Genetics and Applied Genomics, University of Tubingen

Co-authored papers 4

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Co-authored papers 3

Bert B A de Vries

Radboud University Medical Center

Co-authored papers 3

Martin Zenker

Co-authored papers 2

Isabel Filges

University Hospital Basel and University of Basel

Co-authored papers 2

Tony Roscioli

Prince of Wales Hospital

Co-authored papers 2

Irene Valenzuela

Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari

Co-authored papers 2

Jessica Giordano

Columbia University Irving Medical Center

Co-authored papers 2

Ronald J Wapner

Columbia University

Co-authored papers 2

Teresa N Sparks

University of California San Francisco

Co-authored papers 2

Julie Hoover-Fong

Johns Hopkins University

Co-authored papers 2

Petra St??be

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

Joseph D Buxbaum

Icahn School of Medicine at Mount Sinai

Co-authored papers 1

Thomas Wieland

Co-authored papers 1

Lude Franke

Co-authored papers 1

Gareth Baynam

King Edward Memorial Hospital

Co-authored papers 1

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 1

Sabrina Toro

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Dominic J McMullan

Birmingham Women's and Children's NHS Foundation Trust

Co-authored papers 1

Kerstin Kutsche

Co-authored papers 1

Christa Meisinger

University Hospital Augsburg

Co-authored papers 1

Charu Deshpande

Guy's Hospital

Co-authored papers 1

Ian D Krantz

Children's Hospital of Philadelphia

Co-authored papers 1

Susan Schelley

Stanford University

Co-authored papers 1

Peter White

The Ohio State University

Co-authored papers 1

Julie S Cohen

Kennedy Krieger Institute

Co-authored papers 1

Manuel Holtgrewe

Berlin Institute of Health

Co-authored papers 1

Michael H Duyzend

Massachusetts General Hospital

Co-authored papers 1

Reiner Siebert

Co-authored papers 1

1 - 30

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