Skip to Main Content

Author Details

Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
2005
45
24
PMIDPaper TitleJournal TitlePublished Year
36809768Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.Am J Hum Genet2023
37322043Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.Nat Commun2023
36383675Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes.Sci Adv2022
35394676Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394â¿¿694 UK Biobank exomes.Genes Chromosomes Cancer2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
30245514Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.Genet Med2019
31719542Clinical and genetic variability in children with partial albinism.Sci Rep2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
28253385Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.JAMA Ophthalmol2017
26715754Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement.Proc Natl Acad Sci U S A2016
27412140Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Neurology2016
25099250Whole exome sequencing combined with linkage analysis identifies a novel 3â¿¿bp deletion in NR5A1.Eur J Hum Genet2015
26088892Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.Epilepsy Res2015
25504045Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.Hum Mol Genet2015
24219512Implicit memory formation using the word stem completion task during anesthesia in children.Paediatr Anaesth2014
25261934Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.Nat Genet2014
25043520Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.Int J Stroke2014
25129038Using familial information for variant filtering in high-throughput sequencing studies.Hum Genet2014
24462369A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Am J Hum Genet2014
24105366Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.Eur J Hum Genet2014
23297359Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.Hum Mol Genet2013
23653034Subtalar fusion for pes valgus in cerebral palsy: results of a modified technique in the setting of single event multilevel surgery.J Pediatr Orthop2013
23589636Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Neurology2013
22313080Audit of extrapleural local anaesthetic infusion in neonates following repair of tracheo-oesophageal fistulae and oesophageal atresia via thoracotomy.Anaesth Intensive Care2012
23086396Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.Nat Genet2012
22901947Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.Am J Hum Genet2012
22608501Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.Am J Hum Genet2012
21246755A role for central spindle proteins in cilia structure and function.Cytoskeleton (Hoboken)2011
21917141Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.Genome Biol2011
21884576Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort.Genome Med2011
21549341Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.Am J Hum Genet2011
21606386The QT and corrected QT interval in recovery after exercise in children.Circ Arrhythm Electrophysiol2011
21464374Whole-body hypothermia for term and near-term newborns with hypoxic-ischemic encephalopathy: a randomized controlled trial.Arch Pediatr Adolesc Med2011
21485679Audit of initial use of the ultrasound-guided transversus abdominis plane block in children.Anaesth Intensive Care2011
21501128Awareness in children: a secondary analysis of five cohort studies.Anaesthesia2011
20354436Implicit memory formation during routine anesthesia in children: a double-masked randomized controlled trial.Anesthesiology2010
20699328DNA methylation analysis of multiple tissues from newborn twins reveals both genetic and intrauterine components to variation in the human neonatal epigenome.Hum Mol Genet2010
20460999Importance of volume and concentration for ropivacaine interscalene block in preventing recovery room pain and minimizing motor block after shoulder surgery.Anesthesiology2010
19236598An audit of transfusion of red blood cell units in pediatric anesthesia.Paediatr Anaesth2009
19767606Relative potencies of bupivacaine, levobupivacaine, and ropivacaine for neonatal spinal anaesthesia.Br J Anaesth2009
19135234Prenatal probiotic administration can influence Bifidobacterium microbiota development in infants at high risk of allergy.J Allergy Clin Immunol2009
18590856Cemented versus uncemented surface replacement arthroplasty of the proximal interphalangeal joint with a mean 5-year follow-up.J Hand Surg Am2008
18628265I.V. acetaminophen pharmacokinetics in neonates after multiple doses.Br J Anaesth2008
17933155Introduction and audit of intravenous paracetamol at a tertiary paediatric teaching hospital.Anaesth Intensive Care2007
15965240Smg1 nonsense mutations do not abolish nonsense-mediated mRNA decay in Drosophila melanogaster.Genetics2005
  • 1 - 45 of 45

Recommended Authors

Casie A Genetti
Boston Children's Hospital
Career Start Year 2015
Number of shared co-authors 9
Zeynep Coban Akdemir
Baylor College of Medicine
Career Start Year 2012
Number of shared co-authors 12
Taila Hartley
Children's Hospital of Eastern Ontario Research Institute
Career Start Year 2009
Number of shared co-authors 10
Catherine A Brownstein
Harvard Medical School.
Career Start Year 2008
Number of shared co-authors 8
Susanne Motameny
University of Cologne
Career Start Year 2008
Number of shared co-authors 7
Nicole Walley
Duke University School of Medicine and Duke Health System
Career Start Year 2007
Number of shared co-authors 5
Yiran Guo
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia
Career Start Year 2007
Number of shared co-authors 7
David R Adams
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2007
Number of shared co-authors 6
Shalini N Jhangiani
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 11
Irina R Tikhonova
School of Pharmacy, Queen's University Belfast
Career Start Year 2006
Number of shared co-authors 1
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Career Start Year 2005
Number of shared co-authors 6
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 7
Jennifer E Posey
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 11
Heidi Cope
GenOmics and Translational Research Center
Career Start Year 2002
Number of shared co-authors 4
Michael A Simpson
King's College London
Career Start Year 2002
Number of shared co-authors 22
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard
Career Start Year 2002
Number of shared co-authors 20
Eric W Klee
Mayo Clinic College of Medicine and Science
Career Start Year 2001
Number of shared co-authors 16
Jonathan A Bernstein
Stanford University
Career Start Year 2000
Number of shared co-authors 12
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 14
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 28
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Career Start Year 1995
Number of shared co-authors 30
Pankaj B Agrawal
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 11
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Career Start Year 1993
Number of shared co-authors 26
Stanley F Nelson
university of california los angeles
Career Start Year 1993
Number of shared co-authors 5
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Career Start Year 1988
Number of shared co-authors 6
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 15
Leslie G Biesecker
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 13
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 5
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 29
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 18

Collaborators

Melanie Bahlo
Co-authored papers 20
Michael S Hildebrand
Co-authored papers 4
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 3
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 3
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 3
Ingrid E Scheffer
Co-authored papers 3
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 2
Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 2
Stefanie Eggers
Co-authored papers 2
Rebecca E Foulger
Queen Mary University of London
Co-authored papers 2
Alison G Compton
Co-authored papers 2
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 2
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 2
Nikolas Pontikos
Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London
Co-authored papers 2
Emma L Baple
University of Exeter Medical School, Royal Devon & Exeter Hospital
Co-authored papers 2
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 2
Andrew H Sinclair
Co-authored papers 2
Helen Brittain
Queen Mary University of London
Co-authored papers 2
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 2
Ellen M McDonagh
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 2
Ivone U S Leong
Queen Mary University of London
Co-authored papers 2
Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 2
Kristina Iba??ez
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Georgina Hall
The University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 2
Dirk S Paul
Co-authored papers 2
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Augusto Rendon
Genomics England Ltd
Co-authored papers 2
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Release 1.2