|
๐
|
A robust benchmark for detection of germline large deletions and insertions
50 auth.
J. Zook,
Nancy F. Hansen,
Nathan D. Olson,
Lesley M. Chapman,
J. Mullikin,
Chunlin Xiao,
S. Sherry,
S. Koren,
A. Phillippy,
P. Boutros,
S. M. Sahraeian,
Vincent Huang,
A. Rouette,
Noah Alexander,
C. Mason,
...
I. Hajirasouliha,
Camir Ricketts,
Joyce Lee,
R. Tearle,
Ian T. Fiddes,
ร. M. Barrio,
J. Wala,
Andrew Carroll,
Noushin Ghaffari,
O. Rodriguez,
A. Bashir,
S. Jackman,
J. Farrell,
A. Wenger,
C. Alkan,
Arda Soylev,
M. Schatz,
S. Garg,
George M. Church,
T. Marschall,
Ken Chen,
Xian Fan,
A. English,
J. Rosenfeld,
Weichen Zhou,
Ryan E. Mills,
Jay M. Sage,
Jennifer R. Davis,
Michael D. Kaiser,
J. Oliver,
Anthony P. Catalano,
Mark J. P. Chaisson,
Noah Spies,
F. Sedlazeck,
M. Salit
|
8 |
2020 |
8
๐
|
|
๐
|
Whole exome sequencing study identifies novel rare and common Alzheimerโs-Associated variants involved in immune response and transcriptional regulation
97 auth.
J. Bis,
X. Jian,
B. Kunkle,
Yuning Chen,
K. Hamilton-Nelson,
W. Bush,
W. Salerno,
D. Lancour,
Yiyi Ma,
A. Renton,
Edoardo Marcora,
J. Farrell,
Yi Zhao,
L. Qu,
S. Ahmad,
...
N. Amin,
P. Amouyel,
G. Beecham,
J. Below,
D. Campion,
C. Charbonnier,
Jaeyoon Chung,
P. Crane,
Carlos Cruchaga,
L. Cupples,
J. Dartigues,
S. Debette,
J. Deleuze,
L. Fulton,
S. Gabriel,
E. Gรฉnin,
R. Gibbs,
A. Goate,
B. GrenierโBoley,
N. Gupta,
J. Haines,
A. Havulinna,
S. Helisalmi,
M. Hiltunen,
D. Howrigan,
M. Ikram,
J. Kaprio,
J. Konrad,
A. Kuzma,
E. Lander,
M. Lathrop,
T. Lehtimรคki,
Honghuang Lin,
K. Mattila,
R. Mayeux,
D. Muzny,
Waleed Nasser,
B. Neale,
K. Nho,
G. Nicolas,
D. Patel,
M. Pericak-Vance,
M. Perola,
B. Psaty,
O. Quenez,
F. Rajabli,
R. Redon,
C. Reitz,
A. Remes,
V. Salomaa,
C. Sarnowski,
H. Schmidt,
M. Schmidt,
R. Schmidt,
H. Soininen,
T. Thornton,
G. Tosto,
C. Tzourio,
S. J. van der Lee,
C. V. van Duijn,
B. Vardarajan,
Weixin Wang,
E. Wijsman,
R. Wilson,
D. Witten,
K. Worley,
Xiaoling Zhang,
C. Bellenguez,
J. Lambert,
M. Kurki,
A. Palotie,
M. Daly,
E. Boerwinkle,
K. Lunetta,
A. Destefano,
J. Dupuis,
E. Martin,
G. Schellenberg,
S. Seshadri,
A. Naj,
M. Fornage,
L. Farrer
|
7 |
2018 |
7
๐
|
|
๐
|
Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGFโฮฒ/BMP pathway
10 auth.
V. Nolan,
A. Adewoye,
C. Baldwin,
Ling Wang,
Qianli Ma,
D. Wyszynski,
...
J. Farrell,
P. Sebastiani,
L. Farrer,
M. Steinberg
|
7 |
2006 |
7
๐
|
|
๐ฆ
|
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
20 auth.
J. Farrell,
Richard Sherva,
Zhi-Yi Chen,
Hongโyuan Luo,
Benjamin F. Chu,
S. Ha,
Chi-kong Li,
A. Lee,
R. Li,
C. Li,
...
H. Yuen,
J. C. So,
E. Ma,
L. Chan,
V. Chan,
P. Sebastiani,
L. Farrer,
C. Baldwin,
M. Steinberg,
D. Chui
|
7 |
2011 |
7
๐ฆ
|
|
๐
|
Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea
7 auth.
Qianli Ma,
D. Wyszynski,
J. Farrell,
A. Kutlar,
L. Farrer,
C. Baldwin,
...
M. Steinberg
|
7 |
2007 |
7
๐
|
|
๐
|
Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.
10 auth.
C. Baldwin,
V. Nolan,
D. Wyszynski,
Qiangli Ma,
P. Sebastiani,
S. Embury,
...
A. Bisbee,
J. Farrell,
L. Farrer,
M. Steinberg
|
6 |
2005 |
6
๐
|
|
๐
|
Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans
23 auth.
M. Logue,
M. Schu,
B. Vardarajan,
J. Farrell,
David A. Bennett,
J. Buxbaum,
G. Byrd,
N. Ertekin-Taner,
D. Evans,
T. Foroud,
...
A. Goate,
N. Graff-Radford,
M. Kamboh,
W. Kukull,
J. Manly,
J. Haines,
R. Mayeux,
M. Pericak-Vance,
G. Schellenberg,
K. Lunetta,
C. Baldwin,
M. Fallin,
L. Farrer
|
6 |
2014 |
6
๐
|
|
๐
|
Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia
10 auth.
V. Nolan,
C. Baldwin,
Qianli Ma,
D. Wyszynski,
Y. Amirault,
J. Farrell,
...
A. Bisbee,
S. Embury,
L. Farrer,
M. Steinberg
|
6 |
2005 |
6
๐
|
|
๐
|
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.
20 auth.
Duyen A. Ngo,
Harold Bae,
M. Steinberg,
P. Sebastiani,
N. Solovieff,
C. Baldwin,
Efthymia Melista,
S. Safaya,
L. Farrer,
A. Al-Suliman,
...
W. Albuali,
Muneer H Al Bagshi,
Z. Naserullah,
Idowu Akinsheye,
P. Gallagher,
Hongโyuan Luo,
D. Chui,
J. Farrell,
A. Al-Ali,
A. Alsultan
|
5 |
2013 |
5
๐
|
|
๐
|
A robust benchmark for germline structural variant detection
50 auth.
J. Zook,
Nancy F. Hansen,
Nathan D. Olson,
Lesley M. Chapman,
J. Mullikin,
Chunlin Xiao,
S. Sherry,
S. Koren,
A. Phillippy,
P. Boutros,
S. M. Sahraeian,
Vincent Huang,
A. Rouette,
Noah Alexander,
C. Mason,
...
I. Hajirasouliha,
Camir Ricketts,
Joyce Lee,
R. Tearle,
Ian T. Fiddes,
ร. M. Barrio,
J. Wala,
Andrew Carroll,
Noushin Ghaffari,
O. Rodriguez,
A. Bashir,
S. Jackman,
J. Farrell,
A. Wenger,
C. Alkan,
Arda Soylev,
M. Schatz,
S. Garg,
G. Church,
T. Marschall,
Ken Chen,
Xian Fan,
A. English,
J. Rosenfeld,
Weichen Zhou,
Ryan E. Mills,
Jay M. Sage,
Jennifer R. Davis,
Michael D. Kaiser,
J. Oliver,
Anthony P. Catalano,
Mark J. P. Chaisson,
Noah Spies,
F. Sedlazeck,
M. Salit
|
5 |
2019 |
5
๐
|
