Deborah Mackay - Publications, H-index & Citations

Deborah Mackay

University of Southampton

54H指数

183论文数

1.2W被引数

收录论文 74

发表时间

Author Correction: Diagnosis and management of Silver–Russell syndrome: second international consensus statement 作者更正：Silver–Russell综合征的诊断与管理：第二份国际共识声明

Nature Reviews Endocrinology

IF40

2026-09-30

PREAI

Emma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Giuseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine

Diagnosis and management of Silver–Russell syndrome: second international consensus statement 银- Russell 综合征的诊断与管理：第二届国际共识声明

Nature Reviews Endocrinology

IF40

2026-09-23

PREAI

Emma Wakeling; Justin H. Davies; Eloïse Giabicani; Susan M. O’Connell; Madeleine D. Harbison; Amélie Perriere; Jennifer B. Salem; Matthias Begemann; Gerhard Binder; Frédéric Brioude; Dayna Morris-Carney; Jovanna Dahlgren; Bea Dickinson; Bruno Donadille; Beatrice Dubern; Katja Eggermann; Gabriella Gazdagh; Karen Grønskov; Anita C. Hokken Koelega; Youn Hee Jee; Alicia Jurians; Masayo Kagami; Satomi Koyama; Emilie Kulak; Asmahane Ladjouze; Paola Lombardi; Mohamad Maghnie; Louise McClelland; Veronica Mericq; Guiseppa Patti; Klaudia Raabe; Andrea Riccio; Silvia Russo; Helen L. Storr; I. Karen Temple; Zeynep Tümer; Thomas Eggermann; Deborah J. G. Mackay; Irene Netchine

Temple syndrome—an underrecognized multisystem growth disorder: large cohort analysis and proposed scoring system 特马综合征——一种未被充分认识的全身性生长障碍：大规模队列分析和提出的评分系统

The Journal of Clinical Endocrinology and Metabolism

IF0

2026-08-11

OAAI

Alicia F Juriaans; Gabriella Gazdagh; I Karen Temple; Deborah J G Mackay; Gerthe F Kerkhof; Justin H Davies; null

Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes

PEDIATRIC DIABETES

IF5.6

2024-11-25

OAAI

Mccullough, Michael E.; Letourneau-Freiberg, Lisa R.; Bowden, Tiana L.; Kandasamy, Balamurugan; Ray, Angela; Wroblewski, Kristen; del Gaudio, Daniela; Mackay, Deborah J. G.; Philipson, Louis H.; Greeley, Siri Atma W.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

CLINICAL EPIGENETICS

IF4.4

2024-08-01

OAAI

Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2024-02-08

OAAI

Lokulo-Sodipe, Oluwakemi; Inskip, Hazel M.; Byrne, Christopher D.; Child, Jenny; Wakeling, Emma L.; Mackay, Deborah J. G.; Temple, I. Karen; Davies, Justin H.

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

CLINICAL EPIGENETICS

IF4.4

2022-11-07

OAAI

Mackay, Deborah; Bliek, Jet; Kagami, Masayo; Tenorio-Castano, Jair; Pereda, Arrate; Brioude, Frederic; Netchine, Irene; Papingi, Dzhoy; de Franco, Elisa; Lever, Margaret; Sillibourne, Julie; Lombardi, Paola; Gaston, Veronique; Tauber, Maithe; Diene, Gwenaelle; Bieth, Eric; Fernandez, Luis; Nevado, Julian; Tumer, Zeynep; Riccio, Andrea; Maher, Eamonn R.; Beygo, Jasmin; Tannorella, Pierpaola; Russo, Silvia; de Nanclares, Guiomar Perez; Temple, I. Karen; Ogata, Tsutomu; Lapunzina, Pablo; Eggermann, Thomas

Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment

CLINICAL ENDOCRINOLOGY

IF2.4

2022-03-21

OAAI

Lokulo-Sodipe, Oluwakemi; Giabicani, Eloise; Canton, Ana P. M.; Ferrand, Nawfel; Child, Jenny; Wakeling, Emma L.; Binder, Gerhard; Netchine, Irene; Mackay, Deborah J. G.; Inskip, Hazel M.; Byrne, Christopher D.; Temple, I. Karen; Davies, Justin H.

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

CLINICAL EPIGENETICS

IF4.4

2022-03-16

OAAI

Eggermann, Thomas; Yapici, Elzem; Bliek, Jet; Pereda, Arrate; Begemann, Matthias; Russo, Silvia; Tannorella, Pierpaola; Calzari, Luciano; de Nanclares, Guiomar Perez; Lombardi, Paola; Temple, I. Karen; Mackay, Deborah; Riccio, Andrea; Kagami, Masayo; Ogata, Tsutomu; Lapunzina, Pablo; Monk, David; Maher, Eamonn R.; Tuemer, Zeynep

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

JOURNAL OF MEDICAL GENETICS

IF3.7

2021-06-16

OAAI

Alhendi, Ahmed S. N.; Lim, Derek; McKee, Shane; McEntagart, Meriel; Tatton-Brown, Katriona; Temple, I. Karen; Davies, Justin H.; Mackay, Deborah J. G.

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences 干扰的基因组印记及其与人类生殖的相关性: 原因和临床后果

HUMAN REPRODUCTION UPDATE

IF16.1

2020-02-18

OAAI

Elbracht, Miriam; Mackay, Deborah; Begemann, Matthias; Kagan, Karl Oliver; Eggermann, Thomas

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood 儿童以外的遗传证实的Silver-Russell综合征的表型

JOURNAL OF MEDICAL GENETICS

IF3.7

2020-02-13

OAAI

Lokulo-Sodipe, Oluwakemi; Ballard, Lisa; Child, Jenny; Inskip, Hazel M.; Byrne, Christopher D.; Ishida, Miho; Moore, Gudrun E.; Wakeling, Emma L.; Fenwick, Angela; Mackay, Deborah J. G.; Davies, Justin Huw; Temple, I. Karen

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

CLINICAL EPIGENETICS

IF4.4

2019-12-11

OAAI

Sparago, Angela; Verma, Ankit; Patricelli, Maria Grazia; Pignata, Laura; Russo, Silvia; Calzari, Luciano; De Francesco, Naomi; Del Prete, Rosita; Palumbo, Orazio; Carella, Massimo; Mackay, Deborah J. G.; Rezwan, Faisal I.; Angelini, Claudia; Cerrato, Flavia; Cubellis, Maria Vittoria; Riccio, Andrea

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

GENOME RESEARCH

IF5.5

2019-06-03

OAAI

Jeffries, Aaron R.; Maroofian, Reza; Salter, Claire G.; Chioza, Barry A.; Cross, Harold E.; Patton, Michael A.; Dempster, Emma; Temple, I. Karen; Mackay, Deborah J. G.; Rezwan, Faisal I.; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Hunter, Matthew F.; Kamath, Arveen; Kumar, Ajith; Newbury-Ecob, Ruth; Selicorni, Angelo; Springer, Amanda; Van Maldergem, Lionel; Varghese, Vinod; Yachelevich, Naomi; Tatton-Brown, Katrina; Mill, Jonathan; Crosby, Andrew H.; Baple, Emma L.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

CLINICAL EPIGENETICS

IF4.4

2019-03-21

OAAI

Krzyzewska, I. M.; Alders, M.; Maas, S. M.; Bliek, J.; Venema, A.; Henneman, P.; Rezwan, F. I.; Van der Lip, K.; Mul, A. N.; Mackay, D. J. G.; Mannens, M. M. A. M.

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

JOURNAL OF MEDICAL GENETICS

IF3.7

2019-02-06

OAAI

Gheldof, Alexander; Mackay, Deborah J. G.; Cheong, Ying; Verpoest, Willem

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

NATURE REVIEWS GENETICS

IF52

2019-01-15

258

PREAI

Monk, David; Mackay, Deborah J. G.; Eggermann, Thomas; Maher, Eamonn R.; Riccio, Andrea

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-03-24

112

OAAI

Begemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; Fassrainer, Daniela Gonzalez; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Can Thi Bich Ngoc; Vu Chi Dung; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G.

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2018-02-15

OAAI

Brioude, Frederic; Hennekam, Raoul; Bliek, Jet; Coze, Carole; Eggermann, Thomas; Ferrero, Giovanni B.; Kratz, Christian; Le Bouc, Yves; Maas, Saskia M.; Mackay, Deborah J. G.; Maher, Eamonn R.; Mussa, Alessandro; Netchine, Irene

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

nature reviews endocrinology

IF40

2018-01-29

373

OAAI

Brioude, Frederic; Kalish, Jennifer M.; Mussa, Alessandro; Foster, Alison C.; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E.; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D.; Krajewska-Walasek, Malgorzata; Kratz, Christian P.; Ladusans, Edmund J.; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M.; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C.; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J. G.; Riccio, Andrea; Maher, Eamonn R.

研究方向