Author details

Full Name

Jacob Shujui Hsu

Affiliation

Graduate Institute of Medical Genomics and Proteomics, National Taiwan University

ORCID

Career Start Year

1999

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37019333	Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.	J Pediatr	2023
36159868	Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite.	Front Immunol	2022
36331148	Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.	Mol Genet Genomic Med	2022
35884828	Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study.	Biomedicines	2022
34455394	Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.	EBioMedicine	2021
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
30722798	A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.	Psychol Med	2020
30740464	Cancer gene mutations in congenital pulmonary airway malformation patients.	ERJ Open Res	2019
31269534	Plectin Mutations in Progressive Familial Intrahepatic Cholestasis.	Hepatology	2019
29177441	De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.	Hum Mol Genet	2018
29483666	Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.	Eur J Hum Genet	2018
28709720	Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.	Neurobiol Aging	2017
28115622	Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework.	Nucleic Acids Res	2017
29046784	The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.	Transl Neurodegener	2017
27354691	Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.	Bioinformatics	2016
18083246	Divergence of trypanothione-dependent tryparedoxin cascade into cytosolic and mitochondrial pathways in arsenite-resistant variants of Leishmania amazonensis.	Mol Biochem Parasitol	2008
18674569	Two distinct arsenite-resistant variants of Leishmania amazonensis take different routes to achieve resistance as revealed by comparative transcriptomics.	Mol Biochem Parasitol	2008
15907561	Distinct overexpression of cytosolic and mitochondrial tryparedoxin peroxidases results in preferential detoxification of different oxidants in arsenite-resistant Leishmania amazonensis with and without DNA amplification.	Mol Biochem Parasitol	2005
10498182	Expression and cellular localization of ribonucleotide reductase small subunit M2 protein in hydroxyurea-resistant Leishmania mexicana amazonensis.	Mol Biochem Parasitol	1999
9951961	Characterization by pulse-field electrophoresis of a new region of DNA amplification containing the M2 subunit of ribonucleotide reductase in hydroxyurea-resistant Leishmania.	Parasitol Res	1999

1 - 20 of 20

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 5

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 2

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 2

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 10

Hongbo M Xie

Huadong Hospital Affiliated to Fudan University

Career Start Year 2007

Number of shared co-authors 0

Yiran Guo

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

Career Start Year 2007

Number of shared co-authors 1

Chureerat Phokaew

Chulalongkorn University

Career Start Year 2006

Number of shared co-authors 2

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Career Start Year 2006

Number of shared co-authors 1

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 14

Jennifer E Posey

Baylor College of Medicine

Career Start Year 2004

Number of shared co-authors 9

Christin D Collins

Emory University Department of Human Genetics Atlanta Georgia 30322.

Career Start Year 2003

Number of shared co-authors 2

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 3

Tomasz Zemojtel

Berlin Institute of Health (BIH)

Career Start Year 2001

Number of shared co-authors 13

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 4

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 3

Chao Xing

University of Texas Southwestern Medical Center

Career Start Year 1999

Number of shared co-authors 4

Vorasuk Shotelersuk

King Chulalongkorn Memorial Hospital, Chulalongkorn University

Career Start Year 1997

Number of shared co-authors 7

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 8

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 39

Elizabeth A Worthey

Heersink School of Medicine, The University of Alabama at Birmingham

Career Start Year 1995

Number of shared co-authors 9

Wilson A Silva

Ribeirao Preto Medical School - University of Sao Paulo

Career Start Year 1994

Number of shared co-authors 0

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 7

Rafa?? P??oski

Medical University of Warsaw

Career Start Year 1992

Number of shared co-authors 1

Yasushi Okazaki

Intractable Disease Research Center, Graduate School of Medicine, Juntendo University

Career Start Year 1989

Number of shared co-authors 12

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 33

Juha Kere

Folkhalsan Research Center, University of Helsinki

Career Start Year 1987

Number of shared co-authors 5

Richard A Gibbs

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 47

Thomas C Markello

National Institutes of Health

Career Start Year 1982

Number of shared co-authors 6

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 9

Gholson J Lyon

NYS Institute for Basic Research in Developmental Disabilities .

Career Start Year 1972

Number of shared co-authors 15

row(s) 1 - 30 of 30

Pak C Sham

the University of Hong Kong

Co-authored papers 9

Paul K H Tam

Queen Mary Hospital, The University of Hong Kong

Co-authored papers 4

Huimin Xia

Guangzhou Women and Children's Medical Center, Guangzhou Medical University

Co-authored papers 2

Ada Hamosh

Johns Hopkins University School of Medicine

Co-authored papers 1

Manuel Rueda

The Barcelona Institute of Science and Technology

Co-authored papers 1

Albert V Smith

University of Michigan School of Public Health ann arbor

Co-authored papers 1

David Glazer

Verily Life Sciences LLC

Co-authored papers 1

Jerome Kelleher

University of Oxford

Co-authored papers 1

Angel Pizarro

The Institute for Translational Medicine and Therapeutics, University of Pennsylvania

Co-authored papers 1

Michael J S Beauvais

McGill University

Co-authored papers 1

Anna Middleton

Kavli Centre for Ethics, University of Cambridge

Co-authored papers 1

Soichi Ogishima

Tohoku University Graduate School of Medicine

Co-authored papers 1

Helen Schuilenburg

European Bioinformatics Institute

Co-authored papers 1

Torsten Schwede

University of Basel

Co-authored papers 1

Zornitza Stark

Murdoch Children's Research Institute

Co-authored papers 1

Brian Walsh

Oregon Health & Science University

Co-authored papers 1

Rachele M Hendricks-Sturrup

Duke-Margolis Center for Health Policy

Co-authored papers 1

Monica C Munoz-Torres

University of Colorado Anschutz Medical Campus

Co-authored papers 1

Megan Doerr

Cleveland Clinic

Co-authored papers 1

Neerjah Skantharajah

Ontario Institute for Cancer Research

Co-authored papers 1

Robert M Davies

Wellcome Sanger Institute

Co-authored papers 1

Danielle Denisko

University of Toronto

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

Reece K Hart

Broad Institute of MIT and Harvard

Co-authored papers 1

Tristan Nelson

Genomic Medicine Institute

Co-authored papers 1

Debyani Chakravarty

Memorial Sloan Kettering Cancer Center

Co-authored papers 1

David Bernick

Broad Institute of MIT and Harvard