부산대학교 도서관

Hogan, S.; Stiles, R.; Kerr, R.; Burcher, S.; Kerekere, T.; Agnew, J.; Jones, P.; Stiles, M.; Print, C.; Taiuru, K.; Le Quesne Stabej, P.

Heart, Lung and Circulation. 34:S63-S63

Akin L.; Rizzoti K.; Gregory L. C.; Corredor B.; Le Quesne Stabej P.; Williams H.; Buonocore F.; Mouilleron S.; Capra V.; McGlacken-Byrne S. M.; Martos-Moreno G. A.; Azmanov D. N.; Kendirci M.; Kurtoglu S.; Suntharalingham J. P.; Galichet C.; Gustincich S.; Tasic V.; Achermann J. C.; Accogli A.; Filipovska A.; Tuilpakov A.; Maghnie M.; Gucev Z.; Gonen Z. B.; Perez-Jurado L. A.; Robinson I.; Lovell-Badge R.; Argente J.; Dattani M. T.

Genet Med
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Rye, Claire E.; Puketapu-Watson, Huti; Wihongi, Helen; Aika, Ben Te; Macartney-Coxson, Donia; de Ligt, Joep; Print, Cristin G.; Le Quesne Stabej, Polona; Tsai, Peter; Curran, Ben; Jones, Nick; Huh, Jun; Perkins, E. Owen; Pestle, Matt; Zhao, Kenny; Halytskyy, Yuriy; Robertson, Stephen P.; Halliday, Benjamin J.; Goodin, Elizabeth; Markie, David M.

Journal of the Royal Society of New Zealand; Dec2025, Vol. 55 Issue 6, p2481-2505, 25p

Nyaga DM; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Tsai P; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand.; Gebbie C; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Phua HH; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Yap P; Genetic Health Service New Zealand-Northern Hub, Te Toka Tumai, Auckland, New Zealand.; Le Quesne Stabej P; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand.; Farrow S; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Rong J; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Toldi G; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Starship Child Health, Te Whatu Ora Te Toka Tumai, Auckland, New Zealand.; Thorstensen E; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia.; Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.; Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia.; Gamet K; Genetic Health Service New Zealand-Northern Hub, Te Toka Tumai, Auckland, New Zealand.; Van Dyk J; Liggins Institute, The University of Auckland, Auckland, New Zealand.; Greenslade M; Diagnostic Genetics, Department of Pathology and Laboratory Medicine, Te Toka Tumai, Auckland, New Zealand.; O'Sullivan JM; Liggins Institute, The University of Auckland, Auckland, New Zealand. justin.osullivan@auckland.ac.nz.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Yap, Patrick; Riley, Lisa G.; Kakadia, Purvi M.; Bohlander, Stefan K.; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T.; Le Quesne Stabej, Polona

European Journal of Human Genetics. 32(1):125-129

Sinéad M. McGlacken-Byrne; Ignacio Del Valle; Polona Le Quesne Stabej; Laura Bellutti; Luz Garcia-Alonso; Louise A. Ocaka; Miho Ishida; Jenifer P. Suntharalingham; Andrey Gagunashvili; Olumide K. Ogunbiyi; Talisa Mistry; Federica Buonocore; GOSgene; Berta Crespo; Nadjeda Moreno; Paola Niola; Tony Brooks; Caroline E. Brain; Mehul T. Dattani; Daniel Kelberman; Roser Vento-Tormo; Carlos F. Lagos; Gabriel Livera; Gerard S. Conway; John C. Achermann

JCI Insight, Vol 7, Iss 5 (2022)

Oud, MM; Tuijnenburg, P; Hempel, M; van Vlies, N; Ren, Z; Ferdinandusse, S; Jansen, MH; Santer, R; Johannsen, J; Bacchelli, C; Alders, M; Li, R; Davies, R; Dupuis, L; Cale, CM; Wanders, RJ; Pals, ST; Ocaka, L; James, C; Müller, I; Lehmberg, K; Strom, T; Engels, H; Williams, HJ; Beales, P; Roepman, R; Dias, P; Brunner, HG; Cobben, JM; Hall, C; Hartley, T; Le Quesne Stabej, P; Mendoza-Londono, R; Davies, EG; de Sousa, SB; Lessel, D; Arts, HH; Kuijpers, TW

American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V. ; Thakur, Roshan Singh ; Parry, David A. ; Bizard, Anna H. ; Leitch, Andrea ; Cleal, Louise ; Ali, Nadia Shaukat ; Al-Owain, Mohammed A. ; Allen, William ; Altmüller, Janine ; Aza-Carmona, Miriam ; Barakat, Bushra A.Y. ; Barraza-García, Jimena ; Begtrup, Amber ; Bogliolo, Massimo ; Cho, Megan T. ; Cruz-Rojo, Jaime ; Dhahrabi, Hassan Ali Mundi ; Elcioglu, Nursel H. ; Gorman, Gráinne S. ; Jobling, Rebekah ; Kesterton, Ian ; Kishita, Yoshihito ; Kohda, Masakazu ; Le Quesne Stabej, Polona ; Malallah, Asam Jassim ; Nürnberg, Peter ; Ohtake, Akira ; Okazaki, Yasushi ; Pujol, Roser ; Ramirez, Maria José ; Revah-Politi, Anya ; Shimura, Masaru ; Stevens, Paul ; Taylor, Robert W. ; Turner, Lesley ; Williams, Hywel ; Wilson, Carolyn ; Yigit, Gökhan ; Zahavich, Laura ; Alkuraya, Fowzan S. ; Surralles, Jordi ; Iglesias, Alejandro ; Murayama, Kei ; Wollnik, Bernd ; Dattani, Mehul ; Heath, Karen E. ; Hickson, Ian D. ; Jackson, Andrew P.

In The American Journal of Human Genetics 2 August 2018 103(2):221-231

Ramachandran A; Department of Molecular Medicine and Pathology, School of Medical Sciences, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Le Quesne Stabej P; Department of Molecular Medicine and Pathology, School of Medical Sciences, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Boyle V; Endocrinology Unit, Te Whatu Ora Waikato, Hamilton, New Zealand.; School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Elston MS; School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Pattison S; Te Whatu Ora Capital, Coast, and Hutt Valley, New Zealand.; Department of Pathology, Otago Medical School - Dunedin Campus, University of Otago, Dunedin, New Zealand.; Department of Oncology, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Lawrence B; Department of Oncology, School of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Department of Medical Oncology, Te Toka Tumai, Health New Zealand, Auckland, New Zealand.; Print C; Department of Molecular Medicine and Pathology, School of Medical Sciences, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

Publisher: Bioscientifica Ltd Country of Publication: England NLM ID: 9918540584106676 Publication Model: eCollection Cited Medium: Internet ISSN: 2634-4793 (Electronic) Linking ISSN: 26344793 NLM ISO Abbreviation: Endocr Oncol Subsets: PubMed not MEDLINE

Le Quesne Stabej, P; James, C; Ocaka, L; Tekman, M; Grunewald, S; Clement, E; Stanescu, HC; Kleta, R; Morrogh, D; Calder, A; Williams, HJ; Bitner-Glindzicz, M

Orphanet J Rare Dis

McGlacken-Byrne SM; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Institute for Women's Health, University College London, London WC1N 1EH, UK.; Le Quesne Stabej P; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand.; Del Valle I; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Ocaka L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Crespo B; Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Moreno N; Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; James C; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Bacchelli C; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Dattani MT; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Williams HJ; Division of Cancer and Genetics, Genetic and Genomic Medicine, Cardiff University, Cardiff CF14 4AY, UK.; Kelberman D; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Conway GS; Institute for Women's Health, University College London, London WC1N 1EH, UK.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Martin CA; Sarlós K; Logan CV; Thakur RS; Parry DA; Bizard AH; Leitch A; Cleal L; Ali NS; Al-Owain MA; Allen W; Altmüller J; Aza-Carmona M; Barakat BAY; Barraza-García J; Begtrup A; Bogliolo M; Cho MT; Cruz-Rojo J; Mundi Dhahrabi HA; Elcioglu NH; GOSgene; Gorman GS; Jobling R; Kesterton I; Kishita Y; Kohda M; Le Quesne Stabej P; Malallah AJ; Nürnberg P; Ohtake A; Okazaki Y; Pujol R; Ramirez MJ; Revah-Politi A; Shimura M; Stevens P; Taylor RW; Turner L; Williams H; Wilson C; Yigit G; Zahavich L; Alkuraya FS; Surralles J; Iglesias A; Murayama K; Wollnik B; Dattani M; Heath KE; Hickson ID; Jackson AP

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE; PubMed not MEDLINE

Lenassi, Eva ; Saihan, Zubin ; Cipriani, Valentina ; Le Quesne Stabej, Polona ; Moore, Anthony T. ; Luxon, Linda M. ; Bitner-Glindzicz, Maria ; Webster, Andrew R.

In Ophthalmology February 2014 121(2):580-587

Nil Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Huang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Barish S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Zhang X; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China.; Choufani S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Le Quesne Stabej P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, the University of Auckland, Auckland, New Zealand.; Hayes I; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand.; Yap P; Genetic Health Service New Zealand- Northern Hub, Auckland District Health Board, Auckland, New Zealand.; Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Wilson C; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Prescott T; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Vøllo A; Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA; Clinical Genetics Service, Guy's Hospital, Guy's and St Thomas' NHS Trust, London, England, UK.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, FL, USA.; Zon J; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Jobling R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Afenjar A; Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, Paris, France.; Mignot C; Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Robin-Renaldo F; AP-HP, Sorbonne Université, Service de Neurpoédiatrie, Hôpital Trousseau, Paris, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Mao X; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China; Clinical Research Center for Placental Medicine in Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410005, China.; Wegner DJ; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Sisco K; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.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

Le Quesne Stabej, Polona; Saihan, Zubin; Rangesh, Nell; Steele-Stallard, Heather B; Ambrose, John; Coffey, Alison; Emmerson, Jenny; Haralambous, Elene; Hughes, Yasmin; Steel, Karen P; Luxon, Linda M; Webster, Andrew R; Bitner-Glindzicz, Maria

Journal of Medical Genetics. Jan 01, 2012 49(1):27-36

Whittaker, Danielle E.; Oleari, Roberto; Gregory, Louise C.; Le Quesne-Stabej, Polona; Williams, Hywel J.; Torpiano, John G.; Formosa, Nancy; Cachia, Mario J.; Field, Daniel; Lettieri, Antonella; Ocaka, Louise A.; Paganoni, Alyssa J. J.; Rajabali, Sakina H.; Riegman, Kimberley L. H.; De Martini, Lisa B.; Chaya, Taro; Robinson, Iain C. A. F.; Furukawa, Takahisa; Cariboni, Anna; Basson, M. Albert; Dattani, Mehul T.; GOSgene

JOURNAL OF CLINICAL INVESTIGATION; DEC 15 2021, 131 24, pe141587 17p.

Robb TJ; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.; Tsai P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.; Fitzgerald S; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.; Shields P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Houseman PS; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Patel R; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Fan V; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Curran B; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Tse R; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Department of Forensic Pathology, LabPLUS, Auckland, New Zealand.; Ting J; Department of Anatomical Pathology, LabPLUS, Auckland, New Zealand.; Kramer N; Surgical Pathology Unit, North Shore Hospital, Waitemata District Health Board, Auckland, New Zealand.; Woodhouse BJ; Department of Oncology, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Coats E; Department of Oncology, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Le Quesne Stabej P; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Reeve J; Radiology, Auckland District Health Board, Auckland, New Zealand.; Parker K; Department of Oncology, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Lawrence B; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.; Department of Oncology, Faculty of Medicine and Health Sciences, University of Auckland, Auckland, New Zealand.; Blenkiron C; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.; Auckland Cancer Society Research Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Print CG; Department of Molecular Medicine and Pathology, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.; Maurice Wilkins Centre for Biodiscovery hosted by the University of Auckland, Auckland, New Zealand.

Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9918281580506676 Publication Model: eCollection Cited Medium: Internet ISSN: 2767-9764 (Electronic) Linking ISSN: 27679764 NLM ISO Abbreviation: Cancer Res Commun

Gregory LC; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Shah P; Great Ormond Street Hospital, London, United Kingdom.; Sanner JRF; Great Ormond Street Hospital, London, United Kingdom.; Arancibia M; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Hurst J; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Jones WD; NE Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.; Spoudeas H; Great Ormond Street Hospital, London, United Kingdom.; Le Quesne Stabej P; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Williams HJ; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Ocaka LA; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Loureiro C; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Martinez-Aguayo A; Division de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Dattani MT; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Great Ormond Street Hospital, London, United Kingdom.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Steele-Stallard HB; UCL Institute of Child Health, London, UK.; Le Quesne Stabej P; Lenassi E; Luxon LM; Claustres M; Roux AF; Webster AR; Bitner-Glindzicz M

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Mestek-Boukhibar L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Clement E; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.; Jones WD; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.; Drury S; Congenica Ltd, Bioinnovation Data Centre, Wellcome Genome Campus, Cambridge, UK.; Ocaka L; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Le Quesne Stabej P; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Bacchelli C; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Jani N; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Rahman S; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Jenkins L; NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital, London, UK.; Hurst JA; Department of Clinical Genetics, North East Thames RegionalGenetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.; Bitner-Glindzicz M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Peters M; Respiratory, Critical Care and Anaesthesia Unit, UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.; Beales PL; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; Williams HJ; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE