Author details

Full Name

Basak Rosti

Affiliation

Howard Hughes Medical Institute, The Rockefeller University

ORCID

Career Start Year

2013

Papers

H Index

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
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
28823706	Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.	Am J Hum Genet	2017
28092684	Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.	Nat Genet	2017
27001912	Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.	Am J Med Genet A	2016
27245168	Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.	Hum Genet	2016
26005868	Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.	Nat Genet	2015
25848753	Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.	Nat Genet	2015
24482476	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.	Science	2014
24360807	Mutations in CSPP1 lead to classical Joubert syndrome.	Am J Hum Genet	2014
23472759	Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.	Am J Hum Genet	2013

1 - 10 of 10

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 8

Renske Oegema

University Medical Center Utrecht.

Career Start Year 2010

Number of shared co-authors 4

Chandree L Beaulieu

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa

Career Start Year 2009

Number of shared co-authors 5

Susan M Hiatt

HudsonAlpha Institute for Biotechnology

Career Start Year 2008

Number of shared co-authors 1

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 4

Yaping Yang

Baylor College of Medicine

Career Start Year 2008

Number of shared co-authors 9

Jennifer N Partlow

Boston Children's Hospital

Career Start Year 2008

Number of shared co-authors 11

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 5

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 9

Charu Deshpande

Guy's Hospital

Career Start Year 2006

Number of shared co-authors 4

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 1

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 2

May Christine V Malicdan

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2005

Number of shared co-authors 3

Ghayda M Mirzaa

Seattle Children's Hospital.

Career Start Year 2004

Number of shared co-authors 7

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 22

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Career Start Year 1999

Number of shared co-authors 9

Ganeshwaran H Mochida

Massachusetts General Hospital

Career Start Year 1998

Number of shared co-authors 6

Colin A Johnson

University of Leeds Leeds Institute of Medical Research at St James's

Career Start Year 1998

Number of shared co-authors 21

Wojciech Wiszniewski

Oregon Health & Sciences University

Career Start Year 1998

Number of shared co-authors 5

Stephan Z??chner

Hussman Institute for Human Genomics, University of Miami

Career Start Year 1998

Number of shared co-authors 12

Timothy W Yu

Harvard Medical School

Career Start Year 1997

Number of shared co-authors 7

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 12

Dan Doherty

University of Washington

Career Start Year 1996

Number of shared co-authors 11

Pankaj B Agrawal

Broad Institute of MIT and Harvard

Career Start Year 1995

Number of shared co-authors 5

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 9

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Career Start Year 1994

Number of shared co-authors 6

Andrea H N??meth

University of Oxford

Career Start Year 1993

Number of shared co-authors 8

Henry Houlden

Institute of Neurology, University College London (UCL)

Career Start Year 1991

Number of shared co-authors 22

Siddharth Banka

University of Manchester

Career Start Year 1986

Number of shared co-authors 10

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Career Start Year 1983

Number of shared co-authors 4

row(s) 1 - 30 of 30

Joseph G Gleeson

University of California

Co-authored papers 10

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 9

Rasim O Rosti

University of Virginia

Co-authored papers 8

Jennifer L Silhavy

University of California

Co-authored papers 7

Stacey Gabriel

Broad Institute of MIT and Harvard

Co-authored papers 6

Eric Scott

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

Co-authored papers 6

Murat Gunel

Yale School of Medicine

Co-authored papers 6

Naiara Akizu

University of Pennsylvania

Co-authored papers 5

Tawfeg Ben-Omran

Hamad Medical Corporation.

Co-authored papers 4

Jana Schroth

University of California

Co-authored papers 4

Keith K Vaux

university of california san diego Health Physician Network

Co-authored papers 4

Ahmet Okay Caglayan

Yale School of Medicine

Co-authored papers 3

Majdi Kara

University of Tripoli, Tripoli Children's Hospital

Co-authored papers 3

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Co-authored papers 3

H??lya Kayserili

Istanbul University

Co-authored papers 3

Ghada M H Abdel-Salam

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 3

Mahmoud Y Issa

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 3

Susanne Roosing

Radboud University Medical Center

Co-authored papers 2

Anide Johansen

Howard Hughes Medical Institute, University of California

Co-authored papers 2

Gaia Novarino

Institute of Science and Technology Austria (ISTA)

Co-authored papers 2

Brett Copeland

University of California

Co-authored papers 2

Amira Masri

The University of Jordan

Co-authored papers 2

Matloob Azam

Wah Medical College

Co-authored papers 2

William B Dobyns

University of Minnesota

Co-authored papers 2

Ali G Fenstermaker

Howard Hughes Medical Institute, University of California

Co-authored papers 2

Mostafa Abdellateef

Center for Brain Development, University of California

Co-authored papers 2

Laila Selim

Cairo University

Co-authored papers 2

Emily G Spencer

Scripps Research Translational Institute

Co-authored papers 2

Faezeh Mojahedi

Blood Borne Infections Research Center, Academic Center for Education

Co-authored papers 2

Neil C Chi

University of California San Diego

Co-authored papers 2

1 - 30

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