Author details

Full Name

Eric Scott

Affiliation

Rady Children's Institute for Genomic Medicine, University of California

ORCID

Career Start Year

2011

Papers

H Index

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
36400018	Evaluation of cell-free DNA approaches for multi-cancer early detection.	Cancer Cell	2022
30591557	Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.	Proc Natl Acad Sci U S A	2019
31510681	Alignment-free filtering for cfNA fusion fragments.	Bioinformatics	2019
28626029	A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.	J Med Genet	2018
30013181	Biallelic loss of human CTNNA2, encoding Î±N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.	Nat Genet	2018
28013290	Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.	Hum Mol Genet	2017
28092684	Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.	Nat Genet	2017
26820543	The mutation significance cutoff: gene-level thresholds for variant predictions.	Nat Methods	2016
27588454	Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.	Am J Hum Genet	2016
27428751	Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.	Nat Genet	2016
27453578	Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.	Am J Hum Genet	2016
27392077	Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.	Am J Hum Genet	2016
27033521	Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation.	Biochim Biophys Acta	2016
26026149	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.	Elife	2015
26483451	The human gene damage index as a gene-level approach to prioritizing exome variants.	Proc Natl Acad Sci U S A	2015
25848753	Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.	Nat Genet	2015
26005868	Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.	Nat Genet	2015
24482476	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.	Science	2014
25480035	Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.	Am J Hum Genet	2014
24766810	CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.	Cell	2014
24360807	Mutations in CSPP1 lead to classical Joubert syndrome.	Am J Hum Genet	2014
23453666	Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.	Am J Hum Genet	2013
23911318	AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.	Cell	2013
23987214	Virmid: accurate detection of somatic mutations with sample impurity inference.	Genome Biol	2013
23386033	Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.	Eur J Hum Genet	2013
22729223	De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.	Nat Genet	2012
22956686	Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.	Science	2012
21685062	Error correction of high-throughput sequencing datasets with non-uniform coverage.	Bioinformatics	2011

1 - 28 of 28

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 3

Kristina Iba??ez

William Harvey Research Institute, Queen Mary University of London

Career Start Year 2013

Number of shared co-authors 0

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 14

Max Schubach

Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin

Career Start Year 2010

Number of shared co-authors 3

Hilary C Martin

Wellcome Sanger Institute

Career Start Year 2010

Number of shared co-authors 1

Aaron M Wenger

Stanford School of Medicine

Career Start Year 2010

Number of shared co-authors 3

Taila Hartley

Children's Hospital of Eastern Ontario Research Institute

Career Start Year 2009

Number of shared co-authors 8

Christian Gilissen

Radboud University Medical Center

Career Start Year 2009

Number of shared co-authors 15

Susan M Hiatt

HudsonAlpha Institute for Biotechnology

Career Start Year 2008

Number of shared co-authors 2

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 3

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 14

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 7

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 15

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 2

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 5

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Career Start Year 2006

Number of shared co-authors 3

Daniel C Koboldt

Institute for Genomic Medicine, Nationwide Children's Hospital

Career Start Year 2005

Number of shared co-authors 3

Kati J Buckingham

University of Washington

Career Start Year 2005

Number of shared co-authors 5

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 5

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 15

Alicia Hawes

Regeneron Pharmaceuticals Inc.

Career Start Year 2004

Number of shared co-authors 5

Daniel G MacArthur

Broad Institute of MIT and Harvard

Career Start Year 2003

Number of shared co-authors 8

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 8

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Career Start Year 2001

Number of shared co-authors 3

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 15

Timothy W Yu

Harvard Medical School

Career Start Year 1997

Number of shared co-authors 10

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 16

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 18

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 24

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 18

row(s) 1 - 30 of 30

Joseph G Gleeson

University of California

Co-authored papers 25

Stacey Gabriel

Broad Institute of MIT and Harvard

Co-authored papers 15

Rasim O Rosti

University of Virginia

Co-authored papers 15

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 13

Jennifer L Silhavy

University of California

Co-authored papers 12

Murat Gunel

Yale School of Medicine

Co-authored papers 8

H??lya Kayserili

Istanbul University

Co-authored papers 7

Jana Schroth

University of California

Co-authored papers 7

Naiara Akizu

University of Pennsylvania

Co-authored papers 7

Emily G Spencer

Scripps Research Translational Institute

Co-authored papers 6

Tawfeg Ben-Omran

Hamad Medical Corporation.

Co-authored papers 6

Basak Rosti

Howard Hughes Medical Institute, The Rockefeller University

Co-authored papers 6

Ahmet Okay Caglayan

Yale School of Medicine

Co-authored papers 5

Keith K Vaux

university of california san diego Health Physician Network

Co-authored papers 5

Majdi Kara

University of Tripoli, Tripoli Children's Hospital

Co-authored papers 5

Brett Copeland

University of California

Co-authored papers 5

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Co-authored papers 5

Neil C Chi

University of California San Diego

Co-authored papers 3

David N Cooper

Institute of Medical Genetics, Cardiff University

Co-authored papers 3

Gaia Novarino

Institute of Science and Technology Austria (ISTA)

Co-authored papers 3

Enza Maria Valente

University of Pavia

Co-authored papers 3

Peter D Stenson

Co-authored papers 3

Matloob Azam

Wah Medical College

Co-authored papers 3

Christopher R Trotta

Co-authored papers 3

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Co-authored papers 3

Ali G Fenstermaker

Howard Hughes Medical Institute, University of California

Co-authored papers 3

William B Dobyns

University of Minnesota

Co-authored papers 3

Mostafa Abdellateef

Center for Brain Development, University of California

Co-authored papers 3

Elizabeth Nickerson

The Broad Institute of Harvard and MIT

Co-authored papers 3

Faezeh Mojahedi

Blood Borne Infections Research Center, Academic Center for Education

Co-authored papers 3

1 - 30

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