North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow HA1 3UJ, UK.
- Emma L. Wakeling
AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012 Paris, France.
- Frédéric Brioude,
- Eloise Giabicani &
- Irène Netchine
Centre de Recherche Saint Antoine, INSERM UMR S938, 34 rue Crozatier, 75012 Paris, France.
- Frédéric Brioude,
- Eloise Giabicani &
- Irène Netchine
Sorbonne Universities, UPMC UNIV Paris 06, 4 place Jussieu, 75005 Paris, France.
- Frédéric Brioude,
- Eloise Giabicani &
- Irène Netchine
Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK.
- Oluwakemi Lokulo-Sodipe,
- I. Karen Temple &
- Deborah J. G. Mackay
Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
- Oluwakemi Lokulo-Sodipe &
- I. Karen Temple
Department of Paediatrics and Child Health, Cork University Hospital, Wilton, Cork T12 DC4A, Ireland.
- Susan M. O'Connell
MAGIC Foundation, 6645 W. North Avenue, Oak Park, Illinois 60302, USA.
- Jennifer Salem
Academic Medical Centre, Department of Clinical Genetics, Laboratory for Genome Diagnostics, Meibergdreef 15, 1105AZ Amsterdam, Netherlands.
- Jet Bliek
Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 5° andar sala 5340 (LIM25), 01246–000 São Paulo, SP, Brazil.
- Ana P. M. Canton &
- Alexander A. Jorge
Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04–730 Warsaw, Poland.
- Krystyna H. Chrzanowska
Department of Paediatric Endocrinology, University Hospital Southampton, Tremona Road, Southampton SO16 6YD, UK.
- Justin H. Davies
Institutes of Metabolism and Systems Research, Vincent Drive, University of Birmingham, Birmingham B15 2TT, UK.
- Renuka P. Dias
Centre for Endocrinology, Diabetes and Metabolism, Vincent Drive, Birmingham Health Partners, Birmingham B15 2TH, UK.
- Renuka P. Dias
Department of Paediatric Endocrinology and Diabetes, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham B4 6NH, UK.
- Renuka P. Dias
AP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Nutrition and Gastroenterology Department, 26 avenue du Dr Arnold Netter, 75012 Paris, France.
- Béatrice Dubern
Trousseau Hospital, HUEP, APHP, UPMC, 75012 Paris, France.
- Béatrice Dubern
Insitute of Human Genetics, Technical University of Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.
- Miriam Elbracht &
- Thomas Eggermann
Perelman School of Medicine, University of Pennsylvania, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Suite 11NW30, Philadelphia, Pennsylvania 19104, USA.
- Adda Grimberg
Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, 2600 Glostrup, Copenhagen, Denmark.
- Karen Grønskov &
- Zeynep Tümer
Erasmus University Medical Center, Pediatrics, Subdivision of Endocrinology, Wytemaweg 80, 3015 CN, Rotterdam, Netherlands.
- Anita C. S. Hokken-Koelega
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Ohkura, Setagayaku, Tokyo 157–8535, Japan.
- Masayo Kagami
APHP, Department of Pediatric Endocrinology, Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'Expertise Paris Sud Maladies Rares, Hospital Bicêtre Paris Sud, 78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France.
- Agnes Linglart
IRCCS Istituto Giannina Gaslini, University of Genova, Via Gerolamo Gaslini 5, 16147 Genova, Italy.
- Mohamad Maghnie
Otto-von-Guericke University, Department of Pediatrics, Leipziger Street 44, 39120 Magdeburg, Germany.
- Klaus Mohnike
Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Bellvitge Biomedical Research Institute, Gran via 199–203, Hospital Duran i Reynals, 08908, Barcelona, Spain.
- David Monk
Fetal Growth and Development Group, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
- Gudrun E. Moore
Centre for Paediatrics and Child Health, Institute of Human Development, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.
- Philip G. Murray
Department of Pediatrics, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431–3192, Japan.
- Tsutomu Ogata
Pediatric Endocrinology, Genetic, Bone Disease & Gynecology Unit, Children's Hospital, TSA 70034, 31059 Toulouse, France.
- Isabelle Oliver Petit
Instituto Auxologico Italiano, Cytogenetic and Molecular Genetic Laboratory, via Ariosto 13 20145 Milano, Italy.
- Silvia Russo
Department of Anatomy & Cell Biology, Centre for Molecular Medicine & Biobanking, Faculty of Medicine & Surgery, University of Malta, Msida MSD2090, Malta.
- Edith Said
Section of Medical Genetics, Department of Pathology, Mater dei Hospital, Msida MSD2090, Malta.
- Edith Said
IASIS Hospital, 8 Voriou Ipirou, 8036, Paphos, Cyprus.
- Meropi Toumba
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
- Meropi Toumba
University Children's Hospital, Pediatric Endocrinology, Hoppe-Seyler-Strasse 1, 72070 Tuebingen, Germany.
- Gerhard Binder
Mount Sinai School of Medicine, 5 E 98th Street #1192, New York, New York 10029, USA.
- Madeleine D. Harbison
E.L.W., F.B., O.L.-S., S.M.O'C., J.S., E.G., A.C.S.H.-K., P.G.M., M.T., G.B., T.E., M.D.H., I.K.T., D.J.G.M. and I.N. researched data for the article, made substantial contributions to discussion of the content, wrote the article and reviewed and/or edited the manuscript before submission. J.B., A.P.M.C., J.H.D., R.P.D., B.D., M.E., K.G., A.A.J., M.K., M.M., K.M., G.E.M., T.O., I.O.P., S.R. and E.S. made substantial contributions to discussion of the content and reviewed and/or edited the manuscript before submission. K.H.C., A.L., D.M. and Z.T. researched data for the article, made substantial contributions to discussion of the content and reviewed and/or edited the manuscript before submission. A.G. made substantial contributions to discussion of the content, wrote the article and reviewed and/or edited the manuscript before submission. F.B., O.L.S., S.M.O'C. and J.S. are co-second authors. G.B. T.E., M.D.H. and I.K.T. were co-chairs of the working groups and co-ordinating authors with major contributions. D.J.G.M. and I.N. are co-last authors.
Competing interests statement
J.H.D. has received a travel bursary from Merck. B.D. has received honoraria from Fresenius Kiabi. A.G. has received financial support in respect of membership of the steering committee, Pfizer International Growth study (KIGS) database. A.H.-K. has received independent research funding for investigator-initiated and responsible studies, from Novo Nordisk Netherlands and Pfizer. A.L. has received consultancy fees from Sandoz-Alexion. K.M. has received research funding from Pfizer for SRS registry. P.M. has received consultancy fees from Novo Nordisk. S.O'C. has received speaker's fee from Pfizer Healthcare. G.B. has received consultancy fees from Novo Nordisk and Pfizer, as well as honoraria from Pfizer. The other authors declare no competing interests.
Emma L. Wakeling
Emma L. Wakeling is a Consultant in Clinical Genetics (MA (Oxon), FRCP, PhD), for the North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, UK. Her PhD thesis covered genomic imprinting and Silver–Russell syndrome: candidate genes on chromosome 7. Her interests include clinical genetics, particularly growth disorders and Silver–Russell syndrome (SRS), as evidenced by 45 PubMed publications including key publications on epigenotype–phenotype correlations in SRS.
Frédéric Brioude is Associate Professor and Pediatric Endocrinologist at Armand Trousseau Hospital, Paris, France. He focuses on the clinical care and molecular diagnosis of Silver–Russell syndrome (SRS) and Beckwith–Wiedemann syndrome. He is a Member of the French Society for Pediatric Endocrinology and Diabetology. He has 20 PubMed publications, including papers on the discovery of CDKN1C mutations in SRS and a clinical study of multi-locus imprinting disturbance.
Oluwakemi Lokulo-Sodipe is a Paediatrician with an interest in endocrinology. Dr Lokulo-Sodipe's PhD study, titled 'The Study of Adults and Adolescents with Russell-Silver syndrome' was supervised by Professor Temple and was funded by the UK National Institute for Health Research – Research for Patient Benefit programme PB-PG-1111-26003 – VTC.). Dr Lokulo-Sodipe's experience is in management of children with Silver–Russell syndrome (SRS) through specialist clinics with Professors Netchine and Harbison. Dr Lokulo-Sodipe has published papers relating to Temple syndrome, which has clinical features that overlap with SRS.
Susan M. O'Connell
Susan M. O'Connell works at the Department of Paediatrics and Child Health, Cork University Hospital, Ireland. She is a Consultant Paediatric Endocrinologist and Clinical Senior Lecturer at University College Cork. Her MD study (2009) was on follow-up growth of SGA children. Her research interests include growth and imprinting disorders. She has 54 PubMed publications, including North European small for gestational age study (NESGAS) findings.
Jennifer B. Salem is Research Director, RSS/SGA Research & Education Fund, The MAGIC Foundation, USA. Her focus is on expanding research and educational tools related to Silver–Russell syndrome and small for gestational age growth failure for the benefit of physicians and families worldwide. As well as fundraising for, advising and presenting to families, curating a patient database and supporting translational research, she has written educational materials for physicians and patients, including co-authoring the major resource: RSS/SGA – A Comprehensive Guide: Understanding aspects of children diagnosed with Russell–Silver syndrome or born small-for-gestational-age (2009, ISBN No. 978-615-23362-8). She has 2 PubMed publications.
Jet Bliek is Laboratory Lead, Academic Medical Center Department of Clinical Genetics, University of Amsterdam, Netherlands. Her interests include basic and clinically applied research on the genetic aetiology of Beckwith–Wiedemann syndrome and associated childhood tumours; genomic imprinting; innovation of DNA-diagnostics for imprinting disorders; mechanisms of genomic imprinting; and epigenetic gene regulation in clinical conditions including trauma, child abuse and neglect and fetal alcohol syndrome. She has 44 publications including development and validation of novel diagnostic methods and epigenotype–phenotype correlations in imprinting disorders.
Ana P. M. Canton
Ana Pinheiro Machado Canton is a post-doctorant (clinical fellow) in Paediatric Endocrinology, Paediatric Departament of Clinical and Biological Investigations in Endocrinology, Hospital Armand Trousseau, Saint-Antoine Research Center, Paris, France. Her research interests are in genetics and epigenetics of growth and pubertal disorders, including small for gestational age, Silver–Russell syndrome (SRS) and SRS-like conditions.
Krystyna H. Chrzanowska
Krystyna Chrzanowska is a Paediatrician and Consultant in Clinical Genetics, Full Professor and Head of the Genetic Counseling Unit, Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Her special interest is in clinical and molecular aspects of dysmorphic syndromes, chromosomal instability syndromes (notably Nijmegen and Warsaw breakage syndromes) and imprinting disorders including Silver–Russell syndrome. She has over 130 original publications (89 in PubMed), review articles and book contributions.
Justin H. Davies
Justin Davies is a Consultant in Paediatric Endocrinology and Diabetes, University Hospital Southampton, and senior lecturer in child health, University of Southampton, UK. His research interest is in childhood bone disorders and diseases affecting body composition in children. He is service lead for paediatric endocrinology and has initiated a national multidisciplinary specialist service for Silver–Russell syndrome. He has over 50 publications on a wide range of childhood endocrine and imprinting disorders and is Chair-Elect of the British Society for Paediatric Endocrinology and Diabetes.
Renuka P. Dias
Renuka P. Dias is a Consultant in Paediatric Endocrinology, Birmingham Children's Hospital NHS Foundation Trust, UK. Her research interests include genetic aetiology, growth, body composition, cognition and long-term metabolic profiles of children and adolescents with imprinting disorders or born small for gestational age, including those with Silver–Russell syndrome (SRS). She has 15 PubMed publications, including papers on the development and assessment of a SRS clinical scoring system.
Béatrice Dubern is an Associate Professor of Pediatric Nutrition and Gastroenterology, Hôpital Armand-Trousseau, Paris, France; Gastroenterologist and Nutritionist of the French reference center for Silver–Russell syndrome (coordinator Professor I. Netchine). Her research focus is on genetic aetiology, growth, body composition and long-term complications of obese children and adolescents, and on digestive manifestations and nutritional management of children born small for gestational age including those with Silver–Russell syndrome and Prader–Willi syndrome. She has 47 major PubMed publications on these topics.
Miriam Elbracht is a clinical geneticist (Fachärztin für Humangenetik) at Institute of Human Genetics, RWTH Aachen University Hospital, Aachen, Germany. She is senior physician at the Institute of Human Genetics at RWTH Aachen University Hospital, with responsibilities for patient care and university education and tasks. She is a close collaborator of Professor Thomas Eggermann regarding scientific, clinical and academic studies on imprinting disorders. She has 22 PubMed publications including papers on the differential diagnoses of Silver–Russell syndrome.
Eloise Giabicani is an Assistant Professor in Pediatric Endocrinology, Armand Trousseau Hospital, Paris, France. Her career is focused on diagnosis, clinical care and research on Silver–Russell syndrome, growth disorders and precocious puberty.
Adda Grimberg is an Associate Professor of Pediatrics, Perelman School of Medicine, University of Pennsylvania, USA, and Scientific Director, Diagnostic and Research Growth Center, The Children's Hospital of Philadelphia, USA. Her research focus, attested by 48 publications, is on the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis and clinical issues related to child growth, including disparities in the evaluation and management of growth faltering in primary care. She is Chair of the task force charged with drafting new guidelines for GH and rhIGF1 use in children and adolescents for the Pediatric Endocrine Society and is a representative of the Pediatric Endocrine Society for the SRS Clinical Consensus.
Karen Grønskov is a Senior Scientist, Clinical Genetic Clinic, Kennedy Center, Rigshospitalet, University of Copenhagen, Denmark. Her research interests include identification of (epi)genetic mechanisms involved in eye development and diseases such as oculocutanoeous albinism, retinal dystrophies, microphthalmia, optic atrophy, glaucoma and aniridia, as well as genetic causes of imprinting disorders including Beckwith–Wiedemann and Silver–Russell syndromes. She is a Working group leader in COST Action BM1208 – EUCID.net on imprinting disorders. She has 58 publications, including papers on genetic rearrangements and mutations underlying imprinting disorders.
Anita C. S. Hokken-Koelega
Anita C. S. Hokken-Koelega is a Professor of Pediatric Endocrinology, Head of Pediatric Endocrinology and head of Dutch Expert Center for Rare Growth Disorders (including Silver–Russell syndrome), Erasmus University Medical Center Rotterdam and Sophia Children's Hospital, Rotterdam, Netherlands, and Director of the Dutch Growth Research Foundation, Netherlands. Her research interests include genetic aetiology, growth, body composition, cognition and long-term metabolic profile of children and adolescents born small for gestational age, including those with Silver–Russell syndrome and Prader–Willi syndrome, and the short-term and long-term effects of growth hormone treatment on these parameters. She has over 280 research publications in these fields.
Alexander A. Jorge
Alexander Augusto de Lima Jorge is Associate Professor of Medicine at The University of Sao Paulo (USP), School of Medicine, and Principal Investigator of the Genetic-Endocrinology Unit of the Endocrinology Division, Brazil. He is responsible for a growth disorders outpatient clinic (400 patients per year, including 30–40 patients with Silver–Russell syndrome). He is a member and delegate of the Latin American Society of Pediatric Endocrinology. His research interest is in genetic causes of growth disorders, and he has 91 publications. He is a representative of Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) for the SRS Clinical Consensus.
Masayo Kagami is Chief of Clinical Endocrine Research Division, Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan. Dr Kagami's research interests include growth failure and imprinting disorders, including the first description of Kagami–Ogata syndrome and epigenotype–phenotype correlations in Silver–Russell syndrome-like syndromes. She has 37 publications, including major contributions to clinical and molecular description of chr14-related imprinting disorders.
Agnès Linglart is a Professor of Paediatrics (specialized in paediatric endocrinology and metabolic bone diseases), Department of Paediatric Endocrinology and Diabetology, Kremlin Bicêtre (APHP) Hospital, Le Kremlin-Bicêtre Paris, France. She is an international expert in imprinting disorders, in particular in GNAS-related diseases. She is Leader of the reference centre of rare diseases of calcium–phosphorus metabolism INSERM U1169, Paris Sud Paris Saclay University. She is President of the National French Society of Pediatric Endocrinology and Diabetology. She is Chair of the EuroPHP network and working group leader in COST Action BM1208 – EUCID.net on imprinting disorders. She has 78 PubMed publications, with a focus on genetics, epigenetics, diagnosis and care of GNAS-related disorders.
Mohamad Maghnie is Head of Clinical Pediatrics and Endocrine Unit, Giannina Gaslini Institute, University of Genoa, Italy. He is President of the Italian Society for Paediatric Endocrinology and Diabetology (ISPED) and co-author of the Yearbook of Paediatric Endocrinology (2004–2009). His research interests include the aetiology of growth abnormalities, the investigation and treatment of growth hormone deficiency, and the management of paediatric pituitary disorders, with over 155 PubMed scientific publications in these fields.
Klaus Mohnike is an Extraordinary Professor at the Department of Pediatrics, Otto-von-Guericke-University Magdeburg, Germany: Central-German Network for Rare Diseases (Mitteldeutsches Netzwerk für seltene Erkrankungen, MKSE), and Deputy Chairman, Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF e.V.). His specialism is in metabolism and endocrinology with over 130 PubMed publications across a broad range of disorders.
David Monk is a Principal Investigator of the Imprinting and Cancer group in the Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain. His PhD studies were on Silver–Russell syndrome (SRS), specifically characterisation of chr7 microduplications in SRS probands and methylation-based screening to identify imprinted genes. His career focus is on imprinted genes in human development, including imprinting disorders, nonsyndromic growth failure and cancer. He is a Working Group Leader in COST Action BM1208 – EUCID.net on imprinting disorders. He has 75 publications, including characterization of SRS imprinted genes and genome-wide characterizations of imprinting.
Gudrun E. Moore
Gudrun Elisabeth Moore is Professor of Clinical & Molecular Genetics, UCL Institute of Child Health, University College London, UK. She is Director of the International Resource for Pregnancy Complications, Baby Bio Bank. Her career focus is on genomic imprinting, with over 150 publications on imprinted genes and their relevance to normal growth and development, and (epi)genetic characterization of imprinting disorders.
Philip G. Murray
Philip Murray is an NIHR Clinical Lecturer in Paediatric Endocrinology, University of Manchester, and Consultant Paediatric Endocrinologist at the Royal Manchester Children's Hospital, Manchester, UK. He is a clinical and academic paediatric endocrinologist with 22 publications attesting to research interests in the diagnosis and pathogenesis of short stature disorders focusing on children born small for gestational age. He is a participant in the Silver–Russell syndrome consensus meeting as representative of clinical practice committee, European Society of Pediatric Endocrinology (ESPE), and contributor of the differential diagnosis tables.
Tsutomu Ogata is Professor, Department of Pediatrics, Hamamatsu University School of Medicine, Japan; Visiting Director, Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan. Professor Ogata is President of the Japanese Society for Pediatric Endocrinology. His career spans research interests (with over 300 publications) in imprinting disorders, growth failure, disorders of sex development and congenital malformation syndromes. He is a representative of the Asian Pacific Pediatric Endocrine Society (APPES) for the SRS Clinical Consensus.
Isabelle Oliver Petit
Isabelle Oliver Petit is at the Children's Hospital, Centre Hospitalier Universitaire, Toulouse, France. She is an experienced clinician in the Department of Paediatric Endocrinology, Genetic, Bone Disease and Gynaecology, and for the Rare Disease national reference centre for Prader–Willi syndrome. Her research interests are in growth disorders, growth hormone treatment in childhood diseases, rare genetic diseases with small for gestational age and endocrine diseases in paediatric oncology. She is the French clinical coordinator for NESTEGG (Network of European Studies of genes in Growth).
Silvia Russo is Group Leader, Cytogenetic and Molecular Genetic Laboratory, Istituto Auxologico Italiano, I.R.C.C.S., Milano, Italy. She is Group Leader for diagnostic and research activities of rare Mendelian diseases and imprinting disturbances (Beckwith–Wiedemann, Silver–Russell syndrome (SRS), Angelman syndrome, Prader–Willi syndrome, Cornelia de Lange X-linked Mental Retardation, including Fragile X and Rett Syndrome) and susceptibility to multifactorial pathologies, in particular autism. She is interested in diagnosis and translational research in SRS, in close collaboration with clinical colleagues. She is a founding Member of the Italian National SRS Association. She uses genomic tools (exome sequences, SNParray) to investigate origins of imprinting disorders. She has 80 publications focusing on translational research and diagnosis of (epi)genetic disorders.
Edith Said is a Consultant Medical Geneticist & Head of Section of Clinical Genetics & Cytogenetics, Mater dei Hospital, Malta, and Resident Academic Senior Lecturer, Department of Anatomy and Cell Biology, University of Malta. Her special interest is in clinical genetics and dysmorphology, cryptic chromosomal rearrangements and imprinting disorders. She is responsible for paediatric genetic clinics with over 750 consultations a year, at least a third of which are related to growth disorders. She has over 30 original publications, including 10 in PubMed.
Meropi Toumba is a Consultant in Pediatrics and Pediatric Endocrinology, IASIS Hospital, Paphos, Cyprus; Scientific Associate, Cyprus Institute of Neurology and Genetics, with a special interest in small for gestational age (SGA) and Silver–Russell syndrome (SRS). Dr Toumba underwent specialist training in Paediatrics (Hippokration General Hospital, Aristotelion University, Thessaloniki, Greece) and Paediatric Endocrinology (Great Ormond Street Hospital for Sick Children, London, UK). She has received an ESPE Clinical Fellowship to study Silver–Russell syndrome (SRS) with Dr Richard Stanhope at GOSH, London, UK. She is a visiting clinician at MAGIC foundation convention, USA. Dr Toumba has 22 PubMed publications, including papers on the metabolic status of SGA children and GH treatment in SRS.
Zeynep Tümer is Professor and Chief of R&D, Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, Denmark. She has 20 years' experience in classic and molecular cytogenetic analysis. She has been leader of microarray diagnostic facilities at the Kennedy Center since 2008 and leader of cytogenetics (Medical Genetics Clinic, ICMM, KU) for 4 years. Her main research interest is use of genomic technology (including array and next-generation sequencing strategies) to define genetic and/or epigenetic mechanisms of brain and/or neurological disorders such as Menkes disease, Tourette syndrome, intellectual disabilities, developmental and congenital disorders. She is a Board member of European Society of Human Genetics (ESHG) and Working Group Leader in COST Action BM1208 – EUCID.net on imprinting disorders. She has over 160 peer-reviewed publications spanning a broad range of human genetic disorders.
Gerhard Binder is Associate Professor, University of Tübingen, and Head of Paediatric Endocrinology, University Children's Hospital, Tübingen, Germany. He is Head of the German Working Group on Growth. His career focus is on diagnosis and management of growth disorders in children, with over 140 publications across these topics.
Thomas Eggermann is head of laboratory at the Institute of Human Genetics, RWTH Aachen, Germany, and is vice-chair of the German Society of Human Genetics and chair of the COST Action BM1208 – EUCID.net. He provides national and international leadership in molecular diagnosis and translational research on genetic and epigenetic disorders with particular interest in imprinting disorders, and has over 230 publications across these fields.
Madeleine D. Harbison
Madeleine Harbison is Assistant Professor of Pediatrics in the Genetic Endocrinology, Adrenal and Steroid Disorders Group, Mount Sinai School of Medicine, New York, USA, and Assistant Attending Physician at the Department of Pediatrics, Mount Sinai Hospital, New York, USA. She is a pioneer in clinical diagnosis and care of patients with Silver–Russell syndrome. She has 20 PubMed publications.
I. Karen Temple
I. Karen Temple is Professor of Medical Genetics in the Faculty of Medicine, University of Southampton; Honourary Consultant in Clinical Genetics at University Hospital Southampton; Director of the Academic Unit of Human Development and Health, University of Southampton, UK, and Co-lead of the Wessex Genome Medicine centre. She is Past President of the Clinical Genetics Society; Working Group Leader in COST Action BM1208 – EUCID.net on imprinting disorders; and instigator of UK national specialist service for imprinting disorders. Her career interests are in genetics, epigenetics and clinical characterization of childhood developmental disorders, as evidenced by over 180 research publications, including descriptions of transient neonatal diabetes mellitus (TNDM) and Temple syndrome (TS14).
Deborah J. G. Mackay
Deborah J. G. Mackay is Professor of Medical Epigenetics, Faculty of Medicine, University of Southampton, UK. Her research interests are in identification of genetic and epigenetic causes of imprinting disorders, including definition of the archetypal multi-locus imprinting disorder, and identification of causative mutations in ZFP57 and NLRP5. She is a Working Group Leader in COST Action BM1208 – EUCID.net on imprinting disorders. She has over 80 publications in research and diagnosis of human imprinting disorders.
Irène Netchine is Professor of Physiology at Pierre & Marie Curie School of Medicine, Armand Trousseau Children's Hospital, Paris, France; coordinator of the Departments of Paediatric Endocrinology and the Molecular Diagnosis Laboratory concerning growth disorders, and an INSERM research team leader. She is a research pioneer in Silver–Russell syndrome (SRS) with 60 PubMed publications, and her current research interests include the role of the insulin-like growth factor (IGF) system in intrauterine growth retardation and imprinting anomalies leading to fetal growth disorders. She is an instigator of the French multidisciplinary clinical services for SRS and Beckwith–Wiedemann syndrome; Vice-chair of COST Action BM1208 – EUCID.net on imprinting disorders; ESPE research unit coordinator; and the Chair of the first Silver–Russell International Consensus.