Author details

Full Name

Nils Koelling

Affiliation

Nuffield Division of Clinical Laboratory Sciences, University of Oxford

ORCID

Career Start Year

2017

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36792598	Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.	Nat Commun	2023
34353863	Biallelic <i>GINS2</i> variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.	J Med Genet	2022
34376651	The developing mouse coronal suture at single-cell resolution.	Nat Commun	2021
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
32636483	Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.	Genet Med	2020
32101608	amplimap: a versatile tool to process and analyze targeted NGS data.	Bioinformatics	2020
31067316	A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.	Hum Mol Genet	2019
31350555	amplimap: a versatile tool to process and analyze targeted NGS data.	Bioinformatics	2019
31348830	The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.	Hum Reprod	2019
30355600	Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.	Genome Res	2018
29861108	De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.	Am J Hum Genet	2018
30040876	Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.	Hum Mutat	2018
28024300	Genetic variants regulating expression levels and isoform diversity during embryogenesis.	Nature	2017
28639312	Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.	Hum Mutat	2017

1 - 14 of 14

Ben Weisburd

Broad Institute of MIT and Harvard

Career Start Year 2012

Number of shared co-authors 11

Fritz J Sedlazeck

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 2

Manuel Holtgrewe

Berlin Institute of Health

Career Start Year 2011

Number of shared co-authors 5

Marta Gut

Universitat de Barcelona (UB)

Career Start Year 2010

Number of shared co-authors 3

Marten J??ger

Charite Universitatsmedizin Berlin

Career Start Year 2010

Number of shared co-authors 5

Sebastian M Waszak

University of California san francisco

Career Start Year 2010

Number of shared co-authors 1

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 26

Benjamin J Kelly

Nationwide Children's Hospital

Career Start Year 2009

Number of shared co-authors 0

Aakrosh Ratan

Center for Public Health Genomics, University of Virginia

Career Start Year 2008

Number of shared co-authors 0

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 7

Tobias Rausch

University of Heidelberg

Career Start Year 2008

Number of shared co-authors 3

Martin Kircher

Berlin Institute of Health (BIH) at Charite-Universitatsmedizin Berlin

Career Start Year 2008

Number of shared co-authors 1

Aaron R Quinlan

University of Utah

Career Start Year 2007

Number of shared co-authors 0

Jeffrey G Reid

Regeneron Pharmaceuticals, Inc.

Career Start Year 2007

Number of shared co-authors 3

Tomasz Gambin

Institute of Computer Science, Warsaw University of Technology

Career Start Year 2007

Number of shared co-authors 1

Stephan Ossowski

Institute of Medical Genetics and Applied Genomics, University of Tubingen

Career Start Year 2006

Number of shared co-authors 9

Alison Meynert

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 2006

Number of shared co-authors 16

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 1

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 8

Jan O Korbel

European Bioinformatics Institute (EMBL-EBI)

Career Start Year 2001

Number of shared co-authors 4

Brent S Pedersen

Center for Molecular Medicine, University Medical Center Utrecht

Career Start Year 2001

Number of shared co-authors 0

Michael C Zody

Broad Institute of Harvard and MIT

Career Start Year 2001

Number of shared co-authors 7

Nancy F Hansen

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2000

Number of shared co-authors 5

Matthew E Hurles

Wellcome Sanger Institute

Career Start Year 1998

Number of shared co-authors 45

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 2

Jay Shendure

University of Washington

Career Start Year 1996

Number of shared co-authors 12

Sean McGrath

Harvard T.H. Chan School of Public Health

Career Start Year 1996

Number of shared co-authors 0

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 20

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 9

Richard K Wilson

The Ohio State University

Career Start Year 1983

Number of shared co-authors 10

row(s) 1 - 30 of 30

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Co-authored papers 11

Marie Bernkopf

Children's Cancer Research Institute

Co-authored papers 5

Sofia Douzgou

Haukeland University Hospital

Co-authored papers 3

Charu Deshpande

Guy's Hospital

Co-authored papers 2

Maria Bitner-Glindzicz

UCL Great Ormond Street Institute of Child Health Library

Co-authored papers 2

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 2

Eleni Giannoulatou

Co-authored papers 2

Tracy Lester

Oxford University Hospitals NHS Foundation Trust, Churchill Hospital

Co-authored papers 2

Andrea H N??meth

University of Oxford

Co-authored papers 2

Anna de Burca

Oxford University Hospitals NHS Foundation Trust

Co-authored papers 2

Philip Twiss

Cambridge University Hospitals NHS Foundation Trust

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

Rita Horvath

School of Clinical Medicine, University of Cambridge

Co-authored papers 1

Janice Yip

Co-authored papers 1

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 1

Eleanor Dewhurst

University of Cambridge

Co-authored papers 1