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J

Jenna Alnajar

university of london
H指数:6
被引数:241
浏览量:0

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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

端粒生物学疾病先天性角化不良的遗传景观

EMBO MOLECULAR MEDICINE
IF8.3
2024-08-282
OAAI
Tummala, Hemanth; Walne, Amanda J.; Badat, Mohsin; Patel, Manthan; Walne, Abigail M.; Alnajar, Jenna; Chow, Chi Ching; Albursan, Ibtehal; Frost, Jennifer M.; Ballard, David; Killick, Sally; Szitanyi, Peter; Kelly, Anne M.; Raghavan, Manoj; Powell, Corrina; Raymakers, Reinier; Todd, Tony; Mantadakis, Elpis; Polychronopoulou, Sophia; Pontikos, Nikolas; Liao, Tianyi; Madapura, Pradeep; Hossain, Upal; Vulliamy, Tom; Dokal, Inderjeet
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita (vol 109, pg 1472, 2022)
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-07-010
OAAI
Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-08-0114
OAAI
Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet
Acquired somatic variants in inherited myeloid malignancies
LEUKEMIA
IF13.4
2022-02-098
OAAI
Armes, Hannah; Rio-Machin, Ana; Krizsan, Szilvia; Bodor, Csaba; Kaya, Fadimana; Bewicke-Copley, Findlay; Alnajar, Jenna; Walne, Amanda; Peterffy, Borbala; Tummala, Hemanth; Rouault-Pierre, Kevin; Dokal, Inderjeet; Vulliamy, Tom; Fitzgibbon, Jude
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
BLOOD ADVANCES
IF7.1
2021-12-093
OAAI
Walne, Amanda J.; Vulliamy, Tom; Bewicke-Copley, Findlay; Wang, Jun; Alnajar, Jenna; Bridger, Maria G.; Ma, Bernard; Tummala, Hemanth; Dokal, Inderjeet
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
HUMAN GENETICS
IF3.6
2021-03-1122
OAAI
Norris, Kevin; Walne, Amanda J.; Ponsford, Mark J.; Cleal, Kez; Grimstead, Julia W.; Ellison, Alicia; Alnajar, Jenna; Dokal, Inderjeet; Vulliamy, Tom; Baird, Duncan M.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
NATURE COMMUNICATIONS
IF15.7
2020-02-2584
OAAI
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

研究方向

暂未获取到该数据
I
Inderjeet Dokal
H 指数:71论文数:292被引数:1.7万
A
Amanda J. Walne
H 指数:32论文数:55被引数:4,935
H
Hemanth Tummala
H 指数:20论文数:67被引数:1,404
T
Tom Vulliamy
H 指数:59论文数:216被引数:1.3万
N
Nikolas Pontikos
H 指数:43论文数:253被引数:7,703
F
Findlay Bewicke‐Copley
H 指数:12论文数:44被引数:863
M
Manthan Patel
H 指数:10论文数:103被引数:467
P
Peter N. Robinson
H 指数:90论文数:798被引数:3.4万
V
Veryan Codd
H 指数:40论文数:135被引数:9,139
汪
汪俊
H 指数:53论文数:537被引数:1.1万