Author details

Full Name

Jana Schroth

Affiliation

University of California

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

Trey Ideker (CM4AI)

PMID	Paper Title	Journal Title	Published Year
30178464	Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.	Ann Neurol	2018
26026149	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.	Elife	2015
29654772	Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.	Neuron	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
25521378	Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.	Neuron	2014
24360807	Mutations in CSPP1 lead to classical Joubert syndrome.	Am J Hum Genet	2014
23911318	AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.	Cell	2013
22246503	CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.	Nat Genet	2012
22956686	Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.	Science	2012
22700954	Exome sequencing can improve diagnosis and alter patient management.	Sci Transl Med	2012
20616166	SGLT2 mediates glucose reabsorption in the early proximal tubule.	J Am Soc Nephrol	2011
21602792	Subcellular spatial regulation of canonical Wnt signalling at the primary cilium.	Nat Cell Biol	2011
20097874	Dietary Na+ inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y2-receptor tone.	FASEB J	2010
20864687	Adenylate cyclase 6 determines cAMP formation and aquaporin-2 phosphorylation and trafficking in inner medulla.	J Am Soc Nephrol	2010
20660016	TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1.	Am J Physiol Renal Physiol	2010
19276628	Adenosine A(1) receptors determine glomerular hyperfiltration and the salt paradox in early streptozotocin diabetes mellitus.	Nephron Physiol	2009
19570885	Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1.	Am J Physiol Renal Physiol	2009
19158355	Thiazolidinedione-induced fluid retention is independent of collecting duct alphaENaC activity.	J Am Soc Nephrol	2009
18199602	Vasopressin regulation of inner medullary collecting ducts and compensatory changes in mice lacking adenosine A1 receptors.	Am J Physiol Renal Physiol	2008
17130236	Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.	Mol Cell Biol	2007

1 - 22 of 22

Ganesh Pathare

Institute of Anatomy, University of Zurich

Career Start Year 2011

Number of shared co-authors 0

Jonathan W Nelson

Oregon Health and Science University

Career Start Year 2010

Number of shared co-authors 0

Jennifer M Brazill

Washington University

Career Start Year 2008

Number of shared co-authors 0

Michelle Stewart

Mary Lyon Centre at Medical Research Council

Career Start Year 2007

Number of shared co-authors 3

Feng Chen

Washington University in St Louis

Career Start Year 2004

Number of shared co-authors 0

Ana Velic

Interfaculty Institute for Cell Biology.

Career Start Year 2003

Number of shared co-authors 0

Edwin C Oh

University of Nevada Las Vegas.

Career Start Year 2003

Number of shared co-authors 3

John A Sayer

Translational and Clinical Research Institute, Newcastle University

Career Start Year 2001

Number of shared co-authors 11

Peter White

The Ohio State University

Career Start Year 2000

Number of shared co-authors 2

Matias Simons

Institute of Human Genetics, University Hospital Heidelberg

Career Start Year 1999

Number of shared co-authors 4

Detlef Bockenhauer

Great Ormond Street Hospital for Children, NHS Foundation Trust

Career Start Year 1999

Number of shared co-authors 9

Petra Pennekamp

University Hospital Muenster

Career Start Year 1998

Number of shared co-authors 1

Robert S Hoover

Tulane University School of Medicine

Career Start Year 1997

Number of shared co-authors 1

Wei Wu

University of California

Career Start Year 1996

Number of shared co-authors 4

Gregory M Ku

Diabetes Center, University of California san francisco

Career Start Year 1996

Number of shared co-authors 0

Nicholas Katsanis

Northwestern University

Career Start Year 1995

Number of shared co-authors 23

Clara E Magyar

David Geffen School of Medicine, University of California at Los Angeles

Career Start Year 1994

Number of shared co-authors 0

Martin Hrab?? de Angelis

German Center for Diabetes Research (DZD e.V.)

Career Start Year 1993

Number of shared co-authors 4

Katalin Susztak

Perelman School of Medicine, University of Pennsylvania

Career Start Year 1993

Number of shared co-authors 2

Chao-Ling Yang

Oregon Health & Science University

Career Start Year 1991

Number of shared co-authors 1

Bradley K Yoder

Heersink School of Medicine, University of Alabama at Birmingham

Career Start Year 1991

Number of shared co-authors 2

Richard N Sandford

University of Cambridge

Career Start Year 1991

Number of shared co-authors 1

Sanjay Jain

Washington University School of Medicine

Career Start Year 1990

Number of shared co-authors 1

Alan S L Yu

The Jared Grantham Kidney Institute, University of Kansas Medical Center

Career Start Year 1990

Number of shared co-authors 1

Olivier Devuyst

Institute of Physiology, University of Zurich, Cliniques Universitaires Saint-Luc

Career Start Year 1989

Number of shared co-authors 3

Sanjay K Nigam

university of california san diego

Career Start Year 1986

Number of shared co-authors 7

David M Cohen

Oregon Health and Science University

Career Start Year 1984

Number of shared co-authors 0

David H Ellison

Oregon Health and Science University

Career Start Year 1982

Number of shared co-authors 1

Daniela Rotin

The Hospital for Sick Children

Career Start Year 1982

Number of shared co-authors 0

Seth L Alper

Beth Israel Deaconess Medical Center RN380F

Career Start Year 1978

Number of shared co-authors 9

row(s) 1 - 30 of 30

Joseph G Gleeson

University of California

Co-authored papers 12

Maha S Zaki

Human Genetics and Genome Research Institute, National Research Centre

Co-authored papers 11

Jennifer L Silhavy

University of California

Co-authored papers 9

Rasim O Rosti

University of Virginia

Co-authored papers 9

Stacey Gabriel

Broad Institute of MIT and Harvard

Co-authored papers 9

Naiara Akizu

University of Pennsylvania

Co-authored papers 7

Eric Scott

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

Co-authored papers 7

Murat Gunel

Yale School of Medicine

Co-authored papers 7

Emily G Spencer

Scripps Research Translational Institute

Co-authored papers 5

Keith K Vaux

university of california san diego Health Physician Network

Co-authored papers 5

Tawfeg Ben-Omran

Hamad Medical Corporation.

Co-authored papers 5

H??lya Kayserili

Istanbul University

Co-authored papers 5

Ahmet Okay Caglayan

Yale School of Medicine

Co-authored papers 4

Majdi Kara

University of Tripoli, Tripoli Children's Hospital

Co-authored papers 4

Brett Copeland

University of California

Co-authored papers 4

Matloob Azam

Wah Medical College

Co-authored papers 4

Ali G Fenstermaker

Howard Hughes Medical Institute, University of California

Co-authored papers 4

Basak Rosti

Howard Hughes Medical Institute, The Rockefeller University

Co-authored papers 4

Kaya Bilguvar

Acibadem Mehmet Ali Aydinlar University

Co-authored papers 4

Neil C Chi

University of California San Diego

Co-authored papers 3

Gaia Novarino

Institute of Science and Technology Austria (ISTA)

Co-authored papers 3

Friedhelm Hildebrandt

Boston Children's Hospital

Co-authored papers 3

William B Dobyns

University of Minnesota

Co-authored papers 3

Paul A Insel

Co-authored papers 3

Laila Selim

Cairo 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 2

Colin A Johnson

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

Co-authored papers 2

Eugen Boltshauser

Children's University Hospital

Co-authored papers 2

Faezeh Mojahedi

Blood Borne Infections Research Center, Academic Center for Education

Co-authored papers 2

1 - 30

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