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An integrated catalog of reference genes in the human gut microbiome
87 auth.
Junhua Li,
Huijue Jia,
Xianghang Cai,
Huanzi Zhong,
Q. Feng,
S. Sunagawa,
Manimozhiyan Arumugam,
Jens Roat Kultima,
Edi Prifti,
T. Nielsen,
A. S. Juncker,
C. Manichanh,
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F. Levenez,
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Juan Wang,
Xun Xu,
L. Xiao,
Suisha Liang,
Dongya Zhang,
Zhaoxi Zhang,
Weineng Chen,
Hailong Zhao,
J. Al-Aama,
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Huanming Yang,
Jian Wang,
T. Hansen,
H. Nielsen,
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J. Doré,
S. Ehrlich,
N. Pons,
E. Le Chatelier,
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S. Kennedy,
Florence Haimet,
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É. Pelletier,
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F. Artiguenave,
T. Bruls,
Jean Weissenbach,
K. Turner,
J. Parkhill,
M. Antolín,
F. Casellas,
N. Borruel,
E. Varela,
A. Torrejon,
G. Denariaz,
M. Derrien,
J. V. H. van Hylckama Vlieg,
P. Viega,
R. Oozeer,
J. Knoll,
M. Rescigno,
C. Bréchot,
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Alexandre Mérieux,
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S. Tims,
E. Zoetendal,
M. Kleerebezem,
W. D. de Vos,
Antonella Cultrone,
M. Leclerc,
C. Juste,
É. Guédon,
C. Delorme,
Séverine Layec,
Ghalia Khaci,
M. van de Guchte,
Gaetana Vandemeulebrouck,
A. Jamet,
R. Dervyn,
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H. Blottière,
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J. Tap,
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P. Bork,
Jun Wang
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10 |
2014 |
10
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Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome
27 auth.
L. Bicknell,
E. Bongers,
A. Leitch,
Stephen Brown,
Jeroen Schoots,
Margaret E. Harley,
S. Aftimos,
J. Al-Aama,
Michael B Bober,
Paul A. J. Brown,
Hans van Bokhoven,
John Dean,
Alaa Y. Edrees,
Murray Feingold,
Alan Fryer,
...
L. Hoefsloot,
Nikolaus Kau,
N. Knoers,
James MacKenzie,
J. M. Opitz,
Pierre Sarda,
Alison Ross,
I. K. Temple,
A. Toutain,
Carol A. Wise,
Michael Wright,
Andrew P. Jackson
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8 |
2011 |
8
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An Induced Pluripotent Stem Cell Model of Hypoplastic Left Heart Syndrome (HLHS) Reveals Multiple Expression and Functional Differences in HLHS‐Derived Cardiac Myocytes
17 auth.
Yan Jiang,
Saba Habibollah,
K. Tilgner,
J. Collin,
Tomáš Bárta,
J. Al-Aama,
Lenka Tesarov,
Rafiqul Hussain,
A. Trafford,
Graham Kirkwood,
...
E. Sernagor,
Cyril G. Eleftheriou,
S. Przyborski,
M. Stojkovic,
M. Lako,
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L. Armstrong
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6 |
2014 |
6
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Planning the Human Variome Project: The Spain report
102 auth.
J. Kaput,
R. Cotton,
L. Hardman,
M. Watson,
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J. Al-Aama,
F. Al-Mulla,
S. Alonso,
S. Aretz,
A. Auerbach,
B. Bapat,
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S. Brenner,
J. Burn,
M. Bustamante,
R. Calzone,
A. Cambon-Thomsen,
M. Cargill,
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L. Cavedon,
Y. Cho,
Y. Chung,
M. Claustres,
Garry R Cutting,
R. Dalgleish,
J. D. den Dunnen,
Carlos Díaz,
S. Dobrowolski,
M. Rosário N. dos Santos,
R. Ekong,
Simon B. Flanagan,
P. Flicek,
Y. Furukawa,
M. Genuardi,
H. Ghang,
M. Golubenko,
M. Greenblatt,
A. Hamosh,
John M. Hancock,
R. Hardison,
Terence M. Harrison,
R. Hoffmann,
Rania Horaitis,
Heather J. Howard,
C. Barash,
N. Izagirre,
Jongsun Jung,
T. Kojima,
S. Laradi,
Yeon-Su Lee,
Jong-Young Lee,
V. L. Gil-da-Silva-Lopes,
F. Macrae,
D. Maglott,
M. Marafie,
S. Marsh,
Y. Matsubara,
L. Messiaen,
G. Möslein,
M. Netea,
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P. Oefner,
W. Oetting,
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Ana María Oller de Ramírez,
M. Paalman,
J. Parboosingh,
G. Patrinos,
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H. V. van Kranen,
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Y. Yeom,
Seon-Hee Yim,
H. Yoo
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5 |
2009 |
5
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A human iPSC model of Ligase IV deficiency reveals an important role for NHEJ-mediated-DSB repair in the survival and genomic stability of induced pluripotent stem cells and emerging haematopoietic progenitors
21 auth.
K. Tilgner,
K. Tilgner,
I. Neganova,
I. Neganova,
Inmaculada Moreno‐Gimeno,
J. Al-Aama,
Deborah Burks,
S. Yung,
S. Yung,
C. Singhapol,
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G. Saretzki,
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A. Gennery,
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M. Lako,
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5 |
2013 |
5
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Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
8 auth.
M. Jelani,
Saleem Ahmed,
Mona Almramhi,
H. Mohamoud,
Khadijah H Bakur,
Waseem Anshasi,
...
Jun Wang,
J. Al-Aama
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5 |
2015 |
5
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A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities
15 auth.
M. Jelani,
H. C. Dooley,
A. Gubas,
H. Mohamoud,
Muhammad Tariq Masood Khan,
Zahir Ali,
C. Kang,
F. Rahim,
Amin Jan,
Nirmal Vadgama,
...
M. Khan,
J. Al-Aama,
Asifullah Khan,
S. Tooze,
J. Nasir
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5 |
2019 |
5
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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
20 auth.
J. Jerber,
M. Zaki,
J. Al-Aama,
R. O. Rosti,
T. Ben-Omran,
E. Dikoglu,
J. Silhavy,
C. Çağlar,
D. Musaev,
B. Albrecht,
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K. Campbell,
T. Willer,
Mariam Almuriekhi,
A. Çağlayan,
J. Vajsar,
Kaya Bilgüvar,
G. Oǧur,
R. Abou Jamra,
Murat Günel,
J. Gleeson
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4 |
2016 |
4
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A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene
B. Banaganapalli,
K. Mohammed,
I. Khan,
J. Al-Aama,
R. Elango,
N. Shaik
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4 |
2016 |
4
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Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina
29 auth.
M. Kurzawa-Akanbi,
P. Whitfield,
F. Burté,
Pietro M Bertelli,
V. Pathak,
M. Doherty,
Birthe Hilgen,
Lina Gliaudelytė,
Mark Platt,
R. Queen,
J. Coxhead,
Andrew Porter,
M. Öberg,
Daniela Fabrikova,
T. Davey,
...
Chia Shyan Beh,
Maria Georgiou,
J. Collin,
V. Boczonadi,
Anetta Härtlova,
M. Taggart,
J. Al-Aama,
V. Korolchuk,
Christopher Morris,
Jasenka Guduric-Fuchs,
D. Steel,
R. Medina,
L. Armstrong,
M. Lako
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4 |
2022 |
4
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Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient‐induced pluripotent stem cell‐derived retinal pigment epithelium cells
20 auth.
Maria Georgiou,
Chunbo Yang,
R. Atkinson,
K. Pan,
A. Buskin,
Marina Moya Molina,
J. Collin,
J. Al-Aama,
Franziska Goertler,
Sebastian E J Ludwig,
...
T. Davey,
R. Lührmann,
Sushma Nagaraja-Grellscheid,
Colin A. Johnson,
R. Ali,
L. Armstrong,
V. Korolchuk,
H. Urlaub,
S. Mozaffari-Jovin,
M. Lako
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3 |
2022 |
3
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