Andrew O.M. Wilkie - Publications, H-index & Citations

Andrew O.M. Wilkie

John Radcliffe Hospital

89H指数

466论文数

2.9W被引数

收录论文 152

发表时间

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling 利用患者来源的诱导多能干细胞和小鼠模型评估颅缝早闭中独特染色体变异的致病意义

Genetics in Medicine

IF6.2

2026-09-08

OAAI

Dagmara Korona; Akiko Soneda Hashimoto; Yang Pei; Eduardo Calpena; Jackie Sloane-Stanley; Simone G. Riva; Ron Schwessinger; Francesca Forzano; Satyan Chintawar; Galbha Duggal; Steven A. Wall; Jim R. Hughes; Stephen R.F. Twigg; Andrew O.M. Wilkie

Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndrome 24例Apert综合征患者队列研究：长期生存且无高风险癌症

European Journal of Human Genetics

IF4.6

2026-05-04

OAAI

Benjamin J. Cairns; Dominique M. Davidson; Sarah F. Smithson; Andrew O. M. Wilkie

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications 探索Bionano光学基因组图谱技术在解析连锁散在染色体重复的替代结构方面的尺寸限制

Genome Medicine

IF11.2

2025-11-17

OAAI

Yang Pei; Eduardo Calpena; Jill M. Brown; Ron Schwessinger; Lucy Platts; Simon J. McGowan; Tazeen Ashraf; Francesca Forzano; Jane A. Hurst; Wendy D. Jones; Ajoy Sarkar; Richard J. Gibbons; Stephen R. F. Twigg; Andrew O. M. Wilkie

Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang 非Apert综合征：对Pan和Yang近期病例报告的批判

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IF1.7

2025-09-01

PREAI

Wilkie, Andrew O. M.

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2025-03-01

OAAI

Vedovato-dos-Santos, J. Heather; Tooze, Rebecca S.; Sithambaram, Sivagamy; Mccann, Emma; Alanay, Yasemin; Dogan, Ozlem A.; Kilercik, Meltem; Bingol, Aysen; Ozek, Memet M.; Johnson, David; Nellaker, Christoffer; Wilkie, Andrew O. M.; Twigg, Stephen R. F.

Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome

HUMAN MUTATION

IF3.7

2025-01-30

OAAI

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-10-01

OAAI

Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 导致Myhre综合征的SMAD4突变在男性生殖系中处于阳性选择状态

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-09-01

OAAI

Wood, Katherine A.; Tong, R. Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R.; Bush, Stephen J.; Maxwell, Dale W.; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B.; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-05-17

OAAI

Watts, Laura M.; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R.; Zambonin, Jessica L.; Curry, Cynthia J.; Martin, Blanche; Tooze, Rebecca S.; Hawkes, Lara; Kini, Usha; Twigg, Stephen R. F.; Wilkie, Andrew O. M.

Population screening requires robust evidence-genomics is no exception 人口筛查需要强有力的证据-基因组学也不例外

LANCET

IF88.5

2024-02-01

PREAI

Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-01-31

OAAI

Miller, Kerry A.; Cruz Walma, David A.; Pinkas, Daniel M.; Tooze, Rebecca S.; Bufton, Joshua C.; Richardson, William; Manning, Charlotte E.; Hunt, Alice E.; Cros, Julien; Hartill, Verity; Parker, Michael J.; Mcgowan, Simon J.; Twigg, Stephen R. F.; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O. M.; Bullock, Alex N.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-01-30

OAAI

Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T.; Van Laer, Lut; Wilkie, Andrew O. M.; Loeys, Bart

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

GENETICS IN MEDICINE

IF6.2

2023-09-01

OAAI

Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

JOURNAL OF MEDICAL GENETICS

IF3.7

2023-08-09

OAAI

Moore, A. Rachel; Yu, Jing; Pei, Yang; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Walker, Woolf T.; Thomas, N. Simon; Kamath, Arveen; Ibitoye, Rita; Josifova, Dragana; Wilsdon, Anna; Ross, Alison; Calder, Alistair D.; Offiah, Amaka C.; Wilkie, Andrew O. M.; Taylor, Jenny C.; Pagnamenta, Alistair T.

Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-03

OAAI

Vogiatzi, Angeliki; Baltsavia, Ismini; Dialynas, Emmanuel; Theodorou, Vasiliki; Zhou, Yan; Deligianni, Elena; Iliopoulos, Ioannis; Wilkie, Andrew O. M.; Twigg, Stephen R. F.; Mavrothalassitis, George

Mendelian inheritance revisited: dominance and recessiveness in medical genetics 孟德尔遗传再探：医学遗传学中的显性和隐性

NATURE REVIEWS GENETICS

IF52

2023-02-20

PREAI

Zschocke, Johannes; Byers, Peter H.; Wilkie, Andrew O. M.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

NATURE COMMUNICATIONS

IF15.7

2023-02-15

OAAI

Bernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

JOURNAL OF MEDICAL GENETICS

IF3.7

2022-12-21

OAAI

Tooze, Rebecca S.; Calpena, Eduardo; Twigg, Stephen R. F.; D'Arco, Felice; Wakeling, Emma L.; Wilkie, Andrew O. M.

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

GENETICS IN MEDICINE

IF6.2

2022-12-01

OAAI

Lippincott, Margaret F.; Xu, Wanxue; Smith, Abigail A.; Miao, Xinyu; Lafont, Agathe; Shennib, Omar; Farley, Gordon J.; Sabbagh, Riwa; Delaney, Angela; Stamou, Maria; Plummer, Lacey; Salnikov, Kathryn; Georgopoulos, Neoklis A.; Mericq, Veronica; Quinton, Richard; Mau-Them, Frederic Tran; Nambot, Sophie; Hamad, Asma; Brittain, Helen; Tooze, Rebecca S.; Calpena, Eduardo; Wilkie, Andrew O. M.; Willems, Marjolaine; Crowley, William F.; Balasubramanian, Ravikumar; Lamarche-Vane, Nathalie; Davis, Erica E.; Seminara, Stephanie B.

The endogenous calpain inhibitor calpastatin attenuates axon degeneration in murine Guillain-Barre syndrome

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

IF3.2

2022-11-18

OAAI

McGonigal, Rhona; Cunningham, Madeleine E.; Smyth, Duncan; Chou, Michael; Barrie, Jennifer A.; Wilkie, Andrew; Campbell, Clare; Saatman, Kathryn E.; Lunn, Michael; Willison, Hugh J.

研究方向