ArticleNeurology2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic
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Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4citing papers in PubMed
0.9field-weighted citation impact, top 21% of its field
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
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- SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development.Cellular and molecular life sciences : CMLS · 2024Article
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Authors and funding
16 authors at 1 institution in 3 countries.
Dora Batia Dyne SteelFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.ORCID 0000-0003-0942-7943
Federica Rachele DantiFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Mohamed AbunadaFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Benjamin KamienFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Sony MalhotraFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.ORCID 0000-0002-3165-9081
Maya TopfFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.ORCID 0000-0002-8185-1215
Marios KaliakatsosFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Jane ValentineFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Andrea Hilary NemethFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Sandeep JayawantFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Kimberley M ReidFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Kshitij MankadFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Sniya SudhakarFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Hilla Ben-PaziFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Katy BarwickFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel.
Manju A KurianFrom the Department of Developmental Neurosciences (D.B.D.S., K.M.R., M.A.K.), UCL Great Ormond Street Institute of Child Health; Departments of Neurology (D.B.D.S., F.R.D., M.K., K.B., M.A.K.) and Radiology (K.M., S.S.), Great Ormond Street Hospital, London, United Kingdom; Pediatric Neurology Department (M.A.), al-Rantisi Pediatric Hospital, Gaza; Department of Paediatrics (B.K., J.V.), University of Western Australia Medical School, Perth, Australia; Scientific Computing Department (S.M.), Science and Technology Facilities Council, Didcot, United Kingdom; Centre for Structural Systems Biology (M.T.), Leibniz-Institut für Experimentelle Virologie and Universitätsklinikum Hamburg-Eppendorf (UKE), Germany; Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford; Department of Paediatric Neurology (S.J.), Oxford Radcliffe Hospitals; and Neuropediatric Unit (H.B.-P.), Shaare Zedek Medical Centre, Jerusalem, Israel. manju.kurian@ucl.ac.uk.
Science and Technology Facilities Council · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in
methodFollowing detailed clinical phenotyping, 1 family underwent research whole-genome sequencing (WGS), 1 research whole-exome sequencing, and 2 diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modeling, and, where relevant, sequencing of complementary DNA (cDNA) for splicing effect.
resultsIn 2 unrelated families of Pakistani origin (1 consanguineous and 1 not), the same homozygous missense variant in DISCUSSION: Pathogenic variants in
Indexed as
Cation Transport ProteinsHyperkinesisCell Cycle ProteinsDNA, ComplementaryHomozygoteHumansMaleMutation, MissensePedigreePhenotypeTranscription FactorsCation Transport ProteinsCell Cycle ProteinsDNA, ComplementarySLC30A9 protein, humanTranscription Factors
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