부산대학교 도서관

S Hayward; J Norton; L Bownass; C Platt; Genomics England Research Consortium; H Campbell; E Watson; N Forrester; S Smithson; A Menon

BMC Nephrology, Vol 24, Iss 1, Pp 1-6 (2023)

Stafford-Smith B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Daniel M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Gurasashvili J; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Baptiste R; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Bracke-Manzanares X; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom.; Georgiou L; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Green-Armytage A; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Griffin B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Lumborg B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Paternoster B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Smith E; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom; Division of Clinical Medicine, University of Sheffield, Sheffield, United Kingdom.; Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.; Brennan P; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, United Kingdom.; Cleaver R; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Clowes V; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom.; Costello P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.; DeSouza B; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London North West University Healthcare NHS Trust, London, United Kingdom.; Dubois L; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.; George A; Royal Marsden NHS Foundation Trust, Fulham Road, London, United Kingdom.; George E; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.; Harrison R; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.; Hawkes L; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Humphries SE; Centre for Cardiovascular Genetics, University College London, London, United Kingdom.; Jones A; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.; Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; Holiday D; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.; McEntagart M; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom.; Somarathi S; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.; Taylor A; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Tripathi V; Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, United Kingdom.; Morris S; Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.; Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: melissa.hill@ucl.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Calpena, E; Hervieu, A; Kaserer, T; Swagemakers, SMA; Goos, JAC; Popoola, O; Ortiz-Ruiz, MJ; Barbaro-Dieber, T; Bownass, L; Brilstra, EH; Brimble, E; Foulds, N; Grebe, TA; Harder, AVE; Lees, MM; Monaghan, KG; Newbury-Ecob, RA; Ong, K-R; Osio, D; Reynoso Santos, FJ; Ruzhnikov, MRZ; Telegrafi, A; van Binsbergen, E; van Dooren, MF; Deciphering Developmental Disorders Study; van der Spek, PJ; Blagg, J; Twigg, SRF; Mathijssen, IMJ; Clarke, PA; Wilkie, AOM

Am J Hum Genet
2019, 'De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder', American Journal of Human Genetics, vol. 104, no. 4, pp. 709-720. https://doi.org/10.1016/j.ajhg.2019.02.006

Stafford-Smith B; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Gurasashvili J; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Daniel M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Brennan P; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.; Cleaver R; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Clowes V; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.; Costello P; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.; DeSouza B; North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.; Dubois L; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Harrison R; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Hawkes L; Oxford Centre for Genomic Medicine, ACE building, Nuffield Orthopaedic Centre, Oxford, UK.; Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.; McEntagart M; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, UK.; Somarathi S; Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Taylor A; Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.; Tripathi V; Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, UK.; Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. melissa.hill@ucl.ac.uk.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK. melissa.hill@ucl.ac.uk.

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

Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau

Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)

Volpi J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Zhao X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77030, USA.; Owen N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics Laboratories, Houston, TX, 77030, USA.; Evans T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Holder-Espinasse M; Clinical Genetics Department Guy's Hospital, London, SE1 9RT, United Kingdom.; Lahiri N; St George's University Hospital NHS Foundation Trust, London, United Kingdom.; City St. George's University of London, Cardiovascular and Genomics Institute, London, United Kingdom.; Sherlock E; St George's University Hospital NHS Foundation Trust, London, United Kingdom.; Poke G; Genetic Health Service New Zealand, Wellington, New Zealand.; Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Cools B; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium.; Department of Pediatric and Congenital Cardiology, University Hospitals Leuven, Leuven, Belgium.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, 10126, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126, Turin, Italy.; Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10049, Orbassano, TO, Italy.; Grosso E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126, Turin, Italy.; Vasudevan P; University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, LE1 5WW, United Kingdom.; Loddo S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Engwerda A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Hitzert M; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Bownass L; St Michael's Hospital, Southwell St, Bristol, BS2 8EG, United Kingdom.; Newbury-Ecob R; St Michael's Hospital, Southwell St, Bristol, BS2 8EG, United Kingdom.; Miedzybrodzka Z; School of Medicine, Medical Sciences, Nutrition and Dentistry, University of Aberdeen, Aberdeen, United Kingdom.; North of Scotland Clinical Genetics Service, NHS Grampian, Edinburgh, United Kingdom.; Armstrong R; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, CB2 0QQ, United Kingdom.; Lynch SA; Children's Health Ireland at Crumlin, Crumlin, Dublin 12, Republic of Ireland.; Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Xiong S; Prenatal Diagnosis Center & Fetal Medicine Unit, Shanghai Key Laboratory of Maternal Fetal Medicine, Shanghai, 200092, China.; Shanghai Institute of Maternal-Fetal Medicine and Gynecologic Oncology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, 200092, China.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Luna PN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Shaw CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. dscott@bcm.edu.

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

Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau

Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

Rhodes HL; Department of Paediatric Surgery & Urology, Noah's Ark Children's Hospital for Wales, Heath Park, Cardiff, United Kingdom.; Bownass L; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.; Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.; Woodward MN; Department of Paediatric Surgery & Urology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.

Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE

Ellard, S.; Parrish, A.; Wright, C.F.; Baple, E.L.; Morgan, S.; Wynn, S.L.; Walker, S.; Scott, R.H.; Juett, A.; Berry, I.; Rankin, J.; Mein, R.; Hill, S.L.; Ahn, J.W.; Cassidy, E.-J.; Durkie, M.; Fish, L.; Hall, R.; Howard, E.; Deans, Z.C.; Taylor, R.W.; Baty, D.; Berg, J.; Blair, E.; Clouston, P.; Bowdin, S.; Delon, I.; Downes, K.; Bownass, L.; Bradley, T.; Constantinou, P.; Campbell, J.; Charlton, R.; Sheridan, E.; Cooper, N.; McMullan, D.; Ryan, G.; Ellis, D.; Elmslie, F.; Ghali, N.; Jenkins, L.; Ruddy, D.; Short, J.; Thomas, E.; Wakeling, E.; Hagan, R.; McCann, E.; McDevitt, T.; Heggarty, S.; Rea, G.; Higgs, J.; Hunt, D.; McAnulty, C.; Wright, M.; Miedzybrodzka, Z.; O'Sullivan, D.; Moore, D.; Porteous, M.; Newman, W.; Ramsden, S.; Parker, M.; Sarkar, A.; Thomas, S.; Varghese, V.; Williams, A.; Vasudevan, P.

In: Journal of Medical Genetics. (Journal of Medical Genetics, 25 November 2024, 61(12):1103-1112)

Bownass, L.; Newbury-Ecob, R.; Love, S.; Urankar, K.; Study, D.; Vijayakumar, K.; Majumdar, A.

Neuromuscular Disorders. 27:S186-S186

Hayward, S; Norton, J; Bownass, L; Platt, C; Genomics England Research Consortium; Ambrose, J. C.; Arumugam, P; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; et al

In: BMC Nephrology; 8/28/2023; v.24 n.1, 1-6. (6p)

Ormerod, E.; Bownass, L.; Smithson, S.; Zhang, Y.; Dunnill, M. G. S.

Clinical & Experimental Dermatology. Jun2019, Vol. 44 Issue 4, p456-458. 3p. 1 Color Photograph, 1 Diagram.

Bownass L; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Abbs S; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Baujat G; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.; Behzadi G; Department of Radiology, Stavanger University Hospital, Stavanger, Norway.; Berentsen RD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Burren C; Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Calder A; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Cormier-Daire V; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.; Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Foulds N; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.; Juliusson PB; Department of Health Registries, Norwegian Institute of Public Health, Bergen, Norway.; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Paediatrics, Haukeland University Hospital, Bergen, Norway.; Kant SG; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.; Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Mehta SG; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway.; Michot C; Département of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.; Monsell F; Department of Paediatric Orthopaedics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Offiah AC; University of Sheffield, Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Richards A; East Midlands and East of England NHS Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Rosendahl K; Section of Paediatric Radiology, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine, University of Bergen, Bergen, Norway.; Rustad CF; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.; Wellesley D; Wessex Clinical Genetics, Princess Anne Hospital, Southampton, UK.; Wordsworth P; Nuffield Orthopaedic Centre, Oxford, UK.; Smithson S; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, 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

Snijders Blok, L.; Rousseau, J.; Twist, J.; Ehresmann, S.; Takaku, M.; Venselaar, H.; Rodan, L.H.; Nowak, C.B.; Douglas, J.; Swoboda, K.J.; Steeves, M.A.; Sahai, I.; Stumpel, C.T.R.M.; Stegmann, A.P.A.; Wheeler, P.; Willing, M.; Fiala, E.; Kochhar, A.; Gibson, W.T.; Cohen, A.S.A.; Agbahovbe, R.; Innes, A.M.; Au, P.Y.B.; Rankin, J.; Anderson, I.J.; Skinner, S.A.; Louie, R.J.; Warren, H.E.; Afenjar, A.; Keren, B.; Nava, C.; Buratti, J.; Isapof, A.; Rodriguez, D.; Lewandowski, R.; Propst, J.; van Essen, T.; Choi, M.; Lee, S.; Chae, J.H.; Price, S.; Schnur, R.E.; Douglas, G.; Wentzensen, I.M.; Zweier, C.; Reis, A.; Bialer, M.G.; Moore, C.; Koopmans, M.; Brilstra, E.H.; Monroe, G.R.; van Gassen, K.L.I.; van Binsbergen, E.; Newbury-Ecob, R.; Bownass, L.; Bader, I.; Mayr, J.A.; Wortmann, S.B.; Jakielski, K.J.; Strand, E.A.; Kloth, K.; Bierhals, T.; Roberts, J.D.; Petrovich, R.M.; Machida, S.; Kurumizaka, H.; Lelieveld, S.; Pfundt, R.; Jansen, S.; Deriziotis, P.; Faivre, L.; Thevenon, J.; Assoum, M.; Shriberg, L.; Kleefstra, T.; Brunner, H.G.; Wade, P.A.; Fisher, S.E.; Campeau, P.M.

Nat. Commun. 10:883 (2019)
Nat. Commun. 10:2079 (2019)

L. Draper; T. M. Bownass

Weather. 38:346-352

P. D. Vincent; H. Lemon; J. M. Preston; D. L. Wilson; B. H. Wilsdon; R. Bownass

Journal of the Textile Institute Proceedings. 45:P167-P171

Mann N; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Kause F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Henze EK; Department of Molecular Medicine, Cornell University, Ithaca, NY 14853, USA.; Gharpure A; Departments of Neuroscience and Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Shril S; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Connaughton DM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Nakayama M; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Klämbt V; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Wu CW; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Dai R; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Chen J; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; van der Ven AT; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Ityel H; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Tooley MJ; Department of Clinical Genetics, St. Michael's Hospital, University Hospital's Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.; Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.; Bownass L; Department of Clinical Genetics, St. Michael's Hospital, University Hospital's Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.; El Desoky S; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.; De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; Shalaby M; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah 21859, Kingdom of Saudi Arabia.; Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, Macedonia.; Bauer SB; Department of Urology, Boston Children's Hospital, Boston, MA 02115, USA.; Lee RS; Department of Urology, Boston Children's Hospital, Boston, MA 02115, USA.; Beckel JM; Department of Pharmacology and Chemical Biology, University of Pittsburgh, Pittsburgh, PA 15261, USA.; Yu W; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.; Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.; Reutter H; Institute of Human Genetics, University of Bonn, Bonn 53127, Germany Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn 53127, Germany.; Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; Hibbs RE; Departments of Neuroscience and Biophysics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Kawate T; Department of Molecular Medicine, Cornell University, Ithaca, NY 14853, USA.; Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.

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

Bownass L; Department of Clinical Genetics, St Michael's Hospital Department of Paediatric Ophthalmology, University Hospitals Bristol Centre for Child and Adolescent Health, School of Social and Community Medicine, University of Bristol, Bristol National Genetics Education and Development Centre, Birmingham Women's Hospital, Birmingham, UK.; Lunt P; Williams C; Woodbridge T; Ellis M; Scurr I

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

Ramakrishnan R; National Perinatal Epidemiology Unit, University of Oxford, Oxford, United Kingdom.; Mallinson C; National Disease Registration Service, National Health Service England, London, United Kingdom.; Hardy S; National Disease Registration Service, National Health Service England, London, United Kingdom.; Broughan J; National Disease Registration Service, National Health Service England, London, United Kingdom.; Blyth M; National Disease Registration Service, National Health Service England, London, United Kingdom.; Melis G; National Disease Registration Service, National Health Service England, London, United Kingdom.; Franklin C; National Disease Registration Service, National Health Service England, London, United Kingdom.; Hill M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Mellis R; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Wu WH; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Allen S; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.; Chitty LS; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Knight M; National Perinatal Epidemiology Unit, University of Oxford, Oxford, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE