|
🐜
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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
24 auth.
C. Schaaf,
Philip M Boone,
S. Sampath,
C. Williams,
P. Bader,
Jennifer M. Mueller,
O. Shchelochkov,
Chester W. Brown,
Heather P. Crawford,
James A. Phalen,
...
N. Tartaglia,
Patricia A Evans,
William M Campbell,
A. Tsai,
L. Parsley,
Stephanie Grayson,
A. Scheuerle,
Carol Luzzi,
Sandra K Thomas,
Patricia A Eng,
Sung-Hae L. Kang,
Ankita Patel,
P. Stankiewicz,
S. Cheung
|
6 |
2012 |
6
🐜
|
|
🐜
|
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function
14 auth.
J. Phillips,
Bernardo Blanco-Sánchez,
J. Lentz,
A. Tallafuss,
K. Khanobdee,
S. Sampath,
Zachary G. Jacobs,
Philip F. Han,
M. Mishra,
T. Titus,
...
David S. Williams,
B. Keats,
P. Washbourne,
M. Westerfield
|
6 |
2011 |
6
🐜
|
|
🐜
|
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
15 auth.
Justin H. Pham,
C. Shaw,
A. Pursley,
P. Hixson,
S. Sampath,
Erin K. Roney,
T. Gambin,
Sung-Hae L. Kang,
W. Bi,
S. Lalani,
...
C. Bacino,
J. Lupski,
P. Stankiewicz,
Ankita Patel,
S. Cheung
|
5 |
2014 |
5
🐜
|
|
🐜
|
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
7 auth.
Sreelatha Komatireddy,
S. Chakrabarti,
A. Mandal,
A. Reddy,
S. Sampath,
S. Panicker,
...
D. Balasubramanian
|
5 |
2003 |
5
🐜
|
|
🐜
|
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats
53 auth.
P. Stankiewicz,
S. Kulkarni,
Avinash V Dharmadhikari,
S. Sampath,
S. Bhatt,
T. Shaikh,
Z. Xia,
A. Pursley,
M. L. Cooper,
M. Shinawi,
A. Paciorkowski,
D. Grange,
M. Noetzel,
Scott Saunders,
Paul Simons,
...
M. Summar,
Brendan H. Lee,
F. Scaglia,
F. Fellmann,
D. Martinet,
J. Beckmann,
A. Asamoah,
Kathryn Platky,
S. Sparks,
Ann S. Martin,
Suneeta Madan‐Khetarpal,
J. Hoover,
L. Medne,
C. Bonnemann,
J. Moeschler,
Stephanie E. Vallee,
S. Parikh,
P. Irwin,
Victoria P. Dalzell,
Wendy E Smith,
V. Banks,
D. Flannery,
Carolyn Lovell,
G. Bellus,
Kathryn Golden‐Grant,
J. Gorski,
J. Kussmann,
T. McGregor,
R. Hamid,
Jean P. Pfotenhauer,
B. Ballif,
C. Shaw,
Sung-Hae L. Kang,
C. Bacino,
Ankita Patel,
J. Rosenfeld,
S. Cheung,
L. Shaffer
|
5 |
2012 |
5
🐜
|
|
🐜
|
Molecular and functional analysis of a novel MEK2 mutation in cardio‐facio‐cutaneous syndrome: Transmission through four generations
7 auth.
K. Rauen,
W. E. Tidyman,
A. L. Estep,
S. Sampath,
Henry M. Peltier,
S. Bale,
...
Y. Lacassie
|
5 |
2010 |
5
🐜
|
|
🦁
|
Defining the Contribution of CNTNAP2 to Autism Susceptibility
7 auth.
S. Sampath,
Shambu Bhat,
Simone Gupta,
Ashley A O'Connor,
A. West,
D. Arking,
...
A. Chakravarti
|
5 |
2013 |
5
🦁
|
|
🐬
|
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
S. Panicker,
S. Sampath,
A. Mandal,
A. Reddy,
N. Ahmed,
S. Hasnain
|
5 |
2002 |
5
🐬
|
