Author details

Full Name

Lap-Chee Tsui

Affiliation

The University of Hong Kong

ORCID

Career Start Year

1976

Papers

326

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
23378595	The cystic fibrosis gene: a molecular genetic perspective.	Cold Spring Harb Perspect Med	2013
21155978	Arrhythmia and sudden death associated with elevated cardiac chloride channel activity.	J Cell Mol Med	2011
20059485	Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?	Clin Genet	2010
18774132	A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.	Atherosclerosis	2009
19662435	Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results.	Hum Genet	2009
18385167	Nonsteroidal anti-inflammatory drugs upregulate function of wild-type and mutant CFTR.	Eur Respir J	2008
18565096	Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.	Clin Genet	2008
18456862	A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.	Genome Res	2008
18292811	Complex two-gene modulation of lung disease severity in children with cystic fibrosis.	J Clin Invest	2008
17475917	Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.	J Med Genet	2007
17943131	Genome-wide detection and characterization of positive selection in human populations.	Nature	2007
17943122	A second generation human haplotype map of over 3.1 million SNPs.	Nature	2007
17591776	Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.	J Biol Chem	2007
17661825	Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.	Clin Genet	2007
16458993	Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.	J Hepatol	2006
16840743	Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.	Am J Respir Crit Care Med	2006
15675952	A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1.	J Invest Dermatol	2005
18428380	High-resolution FISH analysis.	Curr Protoc Hum Genet	2005
16193325	The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.	Hum Genet	2005
15970608	The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.	Arch Dis Child	2005
16059747	Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.	J Hum Genet	2005
15617554	Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.	Clin Genet	2005
15609301	Altered expression and deletion of RMO1 in osteosarcoma.	Int J Cancer	2005
15679832	A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.	Clin Genet	2005
14984473	The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.	Clin Genet	2004
15253765	Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).	Clin Genet	2004
15211654	A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.	Am J Med Genet A	2004
14706455	Characterization of the segmental duplication LCR7-20 in the human genome.	Genomics	2004
14701727	Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.	Mol Cell Biol	2004
12441405	Loci of intestinal distress in cystic fibrosis knockout mice.	Physiol Genomics	2003
12913074	Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.	Hum Mol Genet	2003
12907024	SARS genome patent: to manage and to share.	Lancet	2003
12900899	Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.	Am J Med Genet A	2003
14645902	Transcriptional activation of immediate-early gene ETR101 by human T-cell leukaemia virus type I Tax.	J Gen Virol	2003
12584532	Glucose intolerance in children with cystic fibrosis.	J Pediatr	2003
12702206	Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.	Genome Biol	2003
12690205	Human chromosome 7: DNA sequence and biology.	Science	2003
12783301	Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.	Hum Genet	2003
12719377	Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans.	Hum Mol Genet	2003
12865275	Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.	Gut	2003
11917532	CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.	Methods Mol Med	2002
14963811	Cystic fibrosis in Uruguay.	Genet Mol Res	2002
12165560	Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.	Hum Mol Genet	2002
12461646	Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice.	Mamm Genome	2002
12461645	Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice.	Mamm Genome	2002
12454843	Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis.	Gastroenterology	2002
11977160	Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.	Am J Med Genet	2002
12000363	Complete screening of the CFTR gene in Argentine cystic fibrosis patients.	Clin Genet	2002
12124730	Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.	Am J Med Genet	2002
12121354	Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).	Clin Genet	2002

1 - 50 of 326

Lars Allan Larsen

University of Copenhagen

Career Start Year 1996

Number of shared co-authors 2

Arnaud Gos

Centre Medical Universitaire

Career Start Year 1992

Number of shared co-authors 1

Xiao-Ning Chen

College of Geographic and Environmental Science, Northwest Normal University

Career Start Year 1991

Number of shared co-authors 17

Yasushi Okazaki

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

Career Start Year 1989

Number of shared co-authors 26

Han G Brunner

Maastricht University Medical Centre

Career Start Year 1987

Number of shared co-authors 19

Hubert J M Smeets

Maastricht University Medical Centre+

Career Start Year 1987

Number of shared co-authors 1

Jiannis Ragoussis

McGill University

Career Start Year 1986

Number of shared co-authors 28

Gail E Herman

12306The Ohio State University

Career Start Year 1986

Number of shared co-authors 12

John D McPherson

Ontario Institute for Cancer Research

Career Start Year 1986

Number of shared co-authors 61

Ilse Wieland

Institute of Human Genetics, University Hospital Magdeburg

Career Start Year 1985

Number of shared co-authors 1

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 14

Murray H Brilliant

Marshfield Clinic Research Institute

Career Start Year 1983

Number of shared co-authors 13

Settara C Chandrasekharappa

National Institutes of Health

Career Start Year 1983

Number of shared co-authors 14

David N Cooper

Institute of Medical Genetics, Cardiff University

Career Start Year 1983

Number of shared co-authors 38

Johan T den Dunnen

Leiden University Medical Center

Career Start Year 1982

Number of shared co-authors 21

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 69

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 52

Val C Sheffield

Carver College of Medicine, University of Iowa

Career Start Year 1980

Number of shared co-authors 16

Michael F Seldin

University of California davis

Career Start Year 1978

Number of shared co-authors 21

Paul Denny

European Bioinformatics Institute

Career Start Year 1977

Number of shared co-authors 8

Graeme Suthers

University of Adelaide

Career Start Year 1977

Number of shared co-authors 5

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 17

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 5

John A Phillips

Vanderbilt University Medical Center

Career Start Year 1974

Number of shared co-authors 10

Julie R Korenberg

University of Utah

Career Start Year 1974

Number of shared co-authors 18

Raju Kucherlapati

Harvard Medical School

Career Start Year 1973

Number of shared co-authors 43

Jonathan G Seidman

Harvard Medical School

Career Start Year 1973

Number of shared co-authors 21

David Valle

Johns Hopkins School of Medicine

Career Start Year 1973

Number of shared co-authors 31

Alan F Scott

Johns Hopkins University School of Medicine

Career Start Year 1972

Number of shared co-authors 16

Jacques S Beckmann

University of Lausanne

Career Start Year 1970

Number of shared co-authors 45

row(s) 1 - 30 of 30

Stephen W Scherer

The Hospital for Sick Children

Co-authored papers 85

Johanna M Rommens

The Hospital for Sick Children

Co-authored papers 33

Syed H E Zaidi

Ontario Institute for Cancer Research

Co-authored papers 9

Xavier Estivill

Sidra Medical Center

Co-authored papers 9

Francis S Collins

University of Michigan ann arbor

Co-authored papers 6

Robert A Hegele

Co-authored papers 6

Arthur L Beaudet

Baylor College of Medicine

Co-authored papers 5

Maximilian Muenke

National Human Genome Research Institute, The National Institutes of Health

Co-authored papers 5

Martin Farrall

Co-authored papers 5

Mark F Leppert

University of Utah

Co-authored papers 4

Eric D Green

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4

Irene L Andrulis

University of Toronto

Co-authored papers 4

Bernard Zinman

Mount Sinai Hospital, University of Toronto

Co-authored papers 4

Garry R Cutting

Johns Hopkins University School of Medicine

Co-authored papers 4

Robert Williamson

Murdoch Children's Research Institute

Co-authored papers 4

Colin McKerlie

The Hospital for Sick Children

Co-authored papers 3

Aravinda Chakravarti

New York University Grossman School of Medicine

Co-authored papers 3

Stylianos E Antonarakis

Co-authored papers 3

Peter Lichter

German Cancer Research Center (DKFZ)

Co-authored papers 3

Michael D Wilson

SickKids Research Institute

Co-authored papers 3

Benjamin J Blencowe

University of Toronto

Co-authored papers 3

Andrew D Paterson

The Hospital for Sick Children

Co-authored papers 3

Yangfan Liu

Co-authored papers 2

Ludmila Pawlikowska

Center for Cerebrovascular Research

Co-authored papers 2

Robert W Plumb

Co-authored papers 2

Jean-Fran??ois Olivier

McGill University Health Center

Co-authored papers 2

Jian-Bing Fan

Nanfang Hospital and Basic Medical College, Southern Medical University

Co-authored papers 2

Jessica Roy

Co-authored papers 2

Jun Yu

Beijing Institute of Genomics, Chinese Academy of Sciences

Co-authored papers 2

Albert V Smith

University of Michigan School of Public Health ann arbor

Co-authored papers 2

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