Tom Vulliamy

Rio-Machin, Ana; Vulliamy, Tom; Hug, Nele; Walne, Amanda; Tawana, Kiran; Cardoso, Shirleny; Ellison, Alicia; Pontikos, Nikolas; Wang, Jun; Tummala, Hemanth; Al Seraihi, Ahad Fahad H.; Alnajar, Jenna; Bewicke-Copley, Findlay; Armes, Hannah; Barnett, Michael; Bloor, Adrian; Bodor, Csaba; Bowen, David; Fenaux, Pierre; Green, Andrew; Hallahan, Andrew; Hjorth-Hansen, Henrik; Hossain, Upal; Killick, Sally; Lawson, Sarah; Layton, Mark; Male, Alison M.; Marsh, Judith; Mehta, Priyanka; Mous, Rogier; Nomdedeu, Josep F.; Owen, Carolyn; Pavlu, Jiri; Payne, Elspeth M.; Protheroe, Rachel E.; Preudhomme, Claude; Pujol-Moix, Nuria; Renneville, Aline; Russell, Nigel; Saggar, Anand; Sciuccati, Gabriela; Taussig, David; Toze, Cynthia L.; Uyttebroeck, Anne; Vandenberghe, Peter; Schlegelberger, Brigitte; Ripperger, Tim; Steinemann, Doris; Wu, John; Mason, Joanne; Page, Paula; Akiki, Susanna; Reay, Kim; Cavenagh, Jamie D.; Plagnol, Vincent; Caceres, Javier F.; Fitzgibbon, Jude; Dokal, Inderjeet

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

ClinGen骨髓恶性肿瘤变异治疗专家小组对种系RUNX1变异的建议

BLOOD ADVANCES

IF7.1

2019-10-16105

Luo, Xi; Feurstein, Simone; Mohan, Shruthi; Porter, Christopher C.; Jackson, Sarah A.; Keel, Sioban; Chicka, Michael; Brown, Anna L.; Kesserwan, Chimene; Agarwal, Anupriya; Luo, Minjie; Li, Zejuan; Ross, Justyne E.; Baliakas, Panagiotis; Pineda-Alvarez, Daniel; DiNardo, Courtney D.; Bertuch, Alison A.; Mehta, Nikita; Vulliamy, Tom; Wang, Ying; Nichols, Kim E.; Malcovati, Luca; Walsh, Michael F.; Rawlings, Lesley H.; McWeeney, Shannon K.; Soulier, Jean; Raimbault, Anna; Routbort, Mark J.; Zhang, Liying; Ryan, Gabriella; Speck, Nancy A.; Plon, Sharon E.; Wu, David; Godley, Lucy A.

Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita

生殖系NPM1突变导致rRNA 2 ′-O-甲基化改变并引起先天性角化障碍

NATURE GENETICS

IF31.8

2019-09-3098

OAAI

Nachmani, Daphna; Bothmer, Anne H.; Grisendi, Silvia; Mele, Aldo; Bothmer, Dietmar; Lee, Jonathan D.; Monteleone, Emanuele; Cheng, Ke; Zhang, Yang; Bester, Assaf C.; Guzzetti, Alison; Mitchell, Caitlin A.; Mendez, Lourdes M.; Pozdnyakova, Olga; Sportoletti, Paolo; Martelli, Maria-Paola; Vulliamy, Tom J.; Safra, Modi; Schwartz, Schraga; Luzzatto, Lucio; Bluteau, Olivier; Soulier, Jean; Darnell, Robert B.; Falini, Brunangelo; Dokal, Inderjeet; Ito, Keisuke; Clohessy, John G.; Pandolfi, Pier Paolo

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

基因组不稳定性是携带双等位基因ERCC6L2变体的骨髓衰竭患者转录缺陷的结果

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2018-07-0934

OAAI

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

LEUKEMIA

IF13.4

2018-04-1949

OAAI

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease

HAEMATOLOGICA

IF7.9

2018-03-0817

OAAI

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

HAEMATOLOGICA

IF7.9

2017-05-1116

OAAI

Urinary prostanoids in preschool wheeze

EUROPEAN RESPIRATORY JOURNAL

IF21

2016-12-222

OAAI

The Human Phenotype Ontology in 2017

NUCLEIC ACIDS RESEARCH

IF13.1

2016-11-28569

OAAI

Koehler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark; Foster, Erin; McMurry, Julie; Ayme, Segolene; Baynam, Gareth; Bello, Susan M.; Boerkoel, Cornelius F.; Boycott, Kym M.; Brudno, Michael; Buske, Orion J.; Chinnery, Patrick F.; Cipriani, Valentina; Connell, Laureen E.; Dawkins, Hugh J. S.; DeMare, Laura E.; Devereau, Andrew D.; de Vries, Bert B. A.; Firth, Helen V.; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jahn, Johaenna A.; James, Roger; Krause, Roland; Laulederkind, Stanley J. F.; Lochmuller, Hanns; Lyon, Gholson J.; Ogishima, Soichi; Olry, Annie; Ouwehand, Willem H.; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; Scott, Richard H.; Segal, Michael; Sergouniotis, Panagiotis I.; Sever, Richard; Smith, Cynthia L.; Straub, Volker; Thompson, Rachel; Turner, Catherine; Turro, Ernest; Veltman, Marijcke W. M.; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Zuchner, Stephan; Zemojtel, Tomasz; Jacobsen, Julius O. B.; Groza, Tudor; Smedley, Damian; Mungall, Christopher J.; Haendel, Melissa; Robinson, Peter N.

Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study

ENVIRONMENT INTERNATIONAL

IF9.7

2016-11-0145

OAAI

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-07-01100

OAAI

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

LEUKEMIA