부산대학교 도서관

Yang C; Center for Translational Science, Children's National Research Institute, Children's National Hospital, Washington, DC, United States; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, DC, United States.; Harafuji N; Center for Translational Science, Children's National Research Institute, Children's National Hospital, Washington, DC, United States; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, DC, United States.; Watts JA; Center for Translational Science, Children's National Research Institute, Children's National Hospital, Washington, DC, United States.; Tao B; University of Alabama at Birmingham, AL, United States.; Moran C; The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.; Clements J; The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.; Price K; The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.; Laucevicius A; The George Washington University School of Medicine and Health Sciences, Washington, DC, United States.; Burrill N; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Gebb J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Soni S; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Oliver E; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Savla JJ; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Christ L; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Moldenhauer J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Hartung EA; Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Didier R; Boston Children's Hospital, Department of Radiology, Boston, MA, United States.; Santani A; Veritas Genetics, Danvers, MA, United States.; Sandford RN; Academic Department of Genomic Medicine, University of Cambridge, Cambridge, United Kingdom.; Selkirk L; Luton and Dunstable University Hospital, Lutton, United Kingdom.; Radley JA; North West Thames Regional Genetics Service, London, United Kingdom.; Mann K; East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Simonicova I; East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Karl R; Institute of Innate Immunity, Medical Faculty, University of Bonn, Bonn, Germany.; Kariat Ashraf AP; Institute of Innate Immunity, Medical Faculty, University of Bonn, Bonn, Germany.; Wachten D; Institute of Innate Immunity, Medical Faculty, University of Bonn, Bonn, Germany.; Wilson L; Department of Pharmacology and Toxicology, University of Alabama at Birmingham, AL, United States; Targeted Metabolomics and Proteomics Laboratory, University of Alabama at Birmingham, AL, United States.; Bebok Z; University of Alabama at Birmingham, AL, United States.; Caldovic L; Center for Precision Medicine and Genomics Research, Children's National Research Institute, Children's National Hospital, Washington, DC, United States; Department of Biochemistry and Molecular Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, United States.; Guay-Woodford LM; Center for Translational Science, Children's National Research Institute, Children's National Hospital, Washington, DC, United States; Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address: guaywoodfl@chop.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

Green CE; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK. Claire.green13@nhs.net.; Albaba S; Sheffield Diagnostic Genetics Service, Sheffield, UK.; Sobey GJ; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK.; Bowen JM; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK.; Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast, Northern Ireland.; Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.; Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.; Melville A; Wessex Clinical Genetics Service Level G, Princess Anne Hospital, Southampton, UK.; Ghali N; Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.; van Dijk FS; Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.; Hobson E; Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds, UK.; Radley JA; North West Thames Regional Genetics Service, Harrow, Middlesex, UK.; Kinning E; West Midlands Clinical Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Dixit A; Nottingham Clinical Genetics Department, The Gables, Nottingham City Hospital, Nottingham, UK.; McCullough S; Northern Ireland Regional Genetics Centre, Belfast, Northern Ireland.; Baker D; Sheffield Diagnostic Genetics Service, Sheffield, UK.; Johnson DS; Ehlers-Danlos Syndrome National Diagnostic Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield, UK. Diana.johnson1@nhs.net.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Elkhateeb, Nour; Crookes, Renarta; Spiller, Michael; Pavinato, Lisa; Palermo, Flavia; Brusco, Alfredo; Parker, Michael; Park, Soo-Mi; Mendes, Ariana Costa; Saraiva, Jorge M; Hammer, Trine Bjørg; Nazaryan-Petersen, Lusine; Barakat, Tahsin Stefan; Wilke, Martina; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca C; Li, Dong; Nomakuchi, Tomoki; Brilstra, Eva H; Hunt, David; Johnson, Diana; Mansour, Sahar; Oprych, Kathryn; Mehta, Sarju G; Platzer, Konrad; Schnabel, Franziska; Kiep, Henriette; Faust, Helene; Prinzing, Gillian; Wiltrout, Kimberly; Radley, Jessica A; Serrano Russi, Alvaro H; Atallah, Isis; Campos-Xavier, Belinda; Amor, David J; Morgan, Angela T; Fagerberg, Christina; Andersen, Ulla A; Andersen, Charlotte B; Bijlsma, Emilia K; Bird, Lynne M; Mullegama, Sureni V; Green, Andrew; Isidor, Bertrand; Cogné, Benjamin; Kenny, Janna; Lynch, Sally A; Quin, Shauna; Low, Karen; Herget, Theresia; Kortüm, Fanny; Levy, Rebecca J; Morrison, Jennifer L; Wheeler, Patricia G; Narumanch, TaraChandra; Peron, Kristina; Matthews, Nicole; Uhlman, Jillian; Bell, Lauren; Pang, Lewis; Scurr, Ingrid; Belles, Rebecca S; Salbert, Bonnie Anne; Schaefer, Gerald Bradley; Green, Sarah; Ros, Andrea; Rodríguez-Palmero, Agustí; Višnjar, Tanja; Writzl, Karin; Vasudevan, Pradeep C; Balasubramanian, Meena

Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Genetics in medicine, vol. 27, no. 3, pp. 101348
Elkhateeb, N, Crookes, R, Spiller, M, Pavinato, L, Palermo, F, Brusco, A, Parker, M, Park, S M, Mendes, A C, Saraiva, J M, Hammer, T B, Nazaryan-Petersen, L, Barakat, T S, Wilke, M, Bhoj, E, Ahrens-Nicklas, R C, Li, D, Nomakuchi, T, Brilstra, E H, Hunt, D, Johnson, D, Mansour, S, Oprych, K, Mehta, S G, Platzer, K, Schnabel, F, Kiep, H, Faust, H, Prinzing, G, Wiltrout, K, Radley, J A, Serrano Russi, A H, Atallah, I, Campos-Xavier, B, Amor, D J, Morgan, A T, Fagerberg, C, Andersen, U A, Andersen, C B, Bijlsma, E K, Bird, L M, Mullegama, S V, Green, A, Isidor, B, Cogné, B, Kenny, J, Lynch, S A, Quin, S, Low, K, Herget, T, Kortüm, F, Levy, R J, Morrison, J L, Wheeler, P G, Narumanch, T C, Peron, K, Matthews, N, Uhlman, J, Bell, L, Pang, L, Scurr, I, Belles, R S, Salbert, B A, Schaefer, G B, Green, S, Ros, A, Rodríguez-Palmero, A, Višnjar, T, Writzl, K, Vasudevan, P C & Balasubramanian, M 2025, ' Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder ', Genetics in Medicine, vol. 27, no. 3, 101348 . https://doi.org/10.1016/j.gim.2024.101348

Ochoa, Eguzkine; Lee, Sunwoo; Lan-Leung, Benoit; Dias, Renuka P; Ong, Ken K; Radley, Jessica A; Pérez de Nanclares, Gustavo; Martinez, Rosa; Clark, Graeme; Martin, Ezequiel; Castaño, Luis; Bottolo, Leonardo; Maher, Eamonn R

Genetics in Medicine. 24:463-474

Radley, Jessica A; Connolly, Melissa; Sabir, Ataf; Kanani, Farah; Carley, Helena; Jones, Rachel L; Hyder, Zerin; Gompertz, Lianne; Reardon, Willie; Richardson, Ruth; McClelland, Louise; Maher, Eamonn R

Clinical Genetics. 100:292-297

Copeland H; Peninsula Clinical Genetics, Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Low KJ; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, United Kingdom.; Wynn SL; Unique (Rare Chromosome Disorder Support Group), Oxted, Surrey, United Kingdom.; Ahmed A; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Arthur V; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Balasubramanian M; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Bennett K; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Berg J; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, United Kingdom.; Bertoli M; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Bryson L; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Bucknall C; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Campbell J; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Chandler K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Chauhan J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Clarkson A; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Coles R; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Conti H; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Costello P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Coupar T; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, United Kingdom.; Craig A; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Dean J; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Dillon A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Dixit A; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Drew K; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Eason J; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Forzano F; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Foulds N; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; Gardham A; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Ghali N; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Green A; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Hanna W; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Harrison R; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Hegarty M; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Holder M; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Irving R; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Johnson K; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Jolley R; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Jones WD; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Jones G; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Joss S; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Kalinauskiene R; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Kanani F; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Kavanagh K; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Khan M; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Khan N; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Kivuva E; Peninsula Clinical Genetics, Clinical Genetics, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Lahiri N; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Lakhani N; Leicestershire, Northamptonshire and Rutland Genomic Medicine Service, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Lampe A; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Mansour S; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Marsden A; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom.; Massey H; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; McKee S; Northern Ireland Regional Genetics Service, Medical Genetics Department, Belfast City Hospital, Belfast, United Kingdom.; Mohammed S; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Naik S; West Midlands Regional Genetics Service, Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, United Kingdom.; Nesarajah M; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Newbury-Ecob R; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Osborne F; South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.; Parker MJ; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Patterson J; West of Scotland Centre for Genomic Medicine, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, United Kingdom.; Pottinger C; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Prapa M; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom.; Prescott K; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Quinn S; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Ireland.; Radley JA; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, United Kingdom.; Robart S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Ross A; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, United Kingdom.; Rosti G; Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.; Sansbury FH; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Whitchurch, Cardiff, United Kingdom.; Sarkar A; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Searle C; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Shannon N; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Shears D; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Smithson S; Bristol Regional Clinical Genetics Service, Level B, St Michael's Hospital, Bristol, United Kingdom.; Stewart H; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Suri M; Nottingham Regional Genetics Service, Nottingham City Hospital Campus, The Gables, Nottingham, United Kingdom.; Tadros S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Theobald R; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Thomas R; South West Thames Centre for Genomics, St. George's University Hospital, Tooting, London, United Kingdom.; Tsoulaki O; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Vasudevan P; Leicestershire, Northamptonshire and Rutland Genomic Medicine Service, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.; Rodriguez MV; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Vittery E; Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.; Whyte S; North East Thames Regional Genetics Service, Clinical Genetics Unit, Great Ormond Street Hospital NHS Trust, London, United Kingdom.; Woods E; Sheffield Clinical Genomics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.; Wright T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, United Kingdom.; Zocche D; Oxford Centre for Genomic Medicine, Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, United Kingdom.; Firth HV; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom.; Wright CF; Department of Clinical and Biomedical Sciences, Medical School, University of Exeter, St Luke's Campus, Exeter, United Kingdom.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE

Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK.; Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.; Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK.; Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101130961 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-7766 (Electronic) Linking ISSN: 14747758 NLM ISO Abbreviation: Pract Neurol Subsets: MEDLINE

Richardson R; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle, UK.; Baralle D; University Hospital of Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.; Bennett C; Yorkshire Regional Genetics Service, The Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Briggs T; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Clayton-Smith J; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Constantinou P; Queen Elizabeth University Hospital, Glasgow, UK.; Foulds N; University Hospital of Southampton NHS Foundation Trust, Southampton, UK.; Jarvis J; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Jewell R; Yorkshire Regional Genetics Service, The Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Johnson DS; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.; Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Radley JA; London North West Regional Genetics Service, St. Mark's and Northwick Park Hospitals, London, UK.; Robertson L; North of Scotland Genetics Service, Aberdeen, Scotland.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Rutten JW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Tellez J; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle, UK.; Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Wilson V; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle, UK.; Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Radley JA; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; O'Sullivan RBG; Medical School, University of Sheffield, Sheffield, UK.; Turton SE; West Midlands Regional Genetics Laboratory Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Vogt J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Jones E; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Smithson S; University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK.; Lachlan K; Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; Rankin J; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Trust, Exeter, UK.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Willoughby J; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Elmslie FF; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; Sansbury FH; University Hospitals Bristol NHS Foundation Trust, Clinical Genetics, St. Michael's Hospital, Bristol, UK.; All Wales Medical Genetics Service, Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.; Cooper N; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.; de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.; Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.; Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA.; Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA.; Crunk A; GeneDx, Gaithersburg, MD 20877, USA.; Folk L; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Yang H; GeneDx, Gaithersburg, MD 20877, USA.; Zou F; GeneDx, Gaithersburg, MD 20877, USA.; Millan F; GeneDx, Gaithersburg, MD 20877, USA.; Person R; GeneDx, Gaithersburg, MD 20877, USA.; Xie Y; GeneDx, Gaithersburg, MD 20877, USA.; Liu S; GeneDx, Gaithersburg, MD 20877, USA.; Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.; Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.; Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.; Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK.; Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK.; Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA.; Pruniski B; Phoenix Children's Hospital, Phoenix, AZ 85016 USA.; Neumeyer AM; Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA 02114, USA.; Radley JA; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK; Clinical Genetics, London North West University Healthcare Foundation Trust, London HA1 3UJ, UK.; Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.; Schmidt B; University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Wilson WG; University of Virginia School of Medicine, Charlottesville, VA 22903, USA.; Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.; Cuperus R; Department of Paediatrics, Juliana Children's Hospital HAGA, 2545 AA the Hague, the Netherlands.; Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain.; Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA.; Tønne E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway.; Tveten K; Department of Medical genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy.; Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy.; Rowe L; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Bunn J; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Saenz M; University of Colorado School of Medicine, Aurora, CO 13001, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Mertens M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Caluseriu O; Department of Medical Genetics in the Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.; Cohn RD; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada.; Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.; Alkhunaizi E; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.; Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Brunner HG; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.; Vissers LELM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Kleefstra T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.; Koolen DA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands. Electronic address: david.koolen@radboudumc.nl.; Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON M5S 2Z9, Canada. Electronic address: rweksb@sickkids.ca.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Radley JA; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.; Vasudevan PC

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE