|
🐜
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Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations
9 auth.
C. Campbell,
Robert A. Cucci,
S. Prasad,
G. Green,
J. B. Edeal,
Chad E. Galer,
...
L. P. Karniski,
V. Sheffield,
Richard J. H. Smith
|
8 |
2001 |
8
🐜
|
|
🐜
|
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
20 auth.
W. McGuirt,
S. Prasad,
A. Griffith,
H. Kunst,
G. Green,
Karl B Shpargel,
Christina L. Runge,
C. Huybrechts,
R. Mueller,
E. Lynch,
...
M. King,
H. Brunner,
C. Cremers,
M. Takanosu,
Shi-wu Li,
M. Arita,
R. Mayne,
D. Prockop,
G. Camp,
Richard J. H. Smith
|
7 |
1999 |
7
🐜
|
|
🐜
|
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
11 auth.
S. Wayne,
N. G. Robertson,
F. Declau,
Nancy Chen,
K. Verhoeven,
S. Prasad,
...
Lisbeth Tranebjärg,
C. Morton,
Allen F. Ryan,
G. Camp,
Richard H. Smith
|
7 |
2001 |
7
🐜
|
|
🐜
|
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
17 auth.
K. Cryns,
E. Orzan,
A. Murgia,
P. Huygen,
F. Moreno,
I. Castillo,
G. P. Chamberlin,
H. Azaiez,
S. Prasad,
Robert A. Cucci,
...
E. Leonardi,
R. Snoeckx,
P. Govaerts,
P. V. D. Heyning,
C. Heyning,
Richard J. H. Smith,
G. Camp
|
7 |
2004 |
7
🐜
|
|
🐜
|
Genotype–phenotype correlations for SLC26A4-related deafness
7 auth.
H. Azaiez,
T. Yang,
S. Prasad,
Jessica L. Sorensen,
C. Nishimura,
W. Kimberling,
...
Richard J. H. Smith
|
6 |
2007 |
6
🐜
|
|
🐜
|
GJB2: The spectrum of deafness‐causing allele variants and their phenotype
9 auth.
H. Azaiez,
G. P. Chamberlin,
Stephanie M. Fischer,
Chelsea L. Welp,
S. Prasad,
R. Taggart,
...
I. Castillo,
G. Camp,
Richard J. H. Smith
|
6 |
2004 |
6
🐜
|
|
🦁
|
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness‐causing mutations (R32C and 645‐648delTAGA)
S. Prasad,
Robert A. Cucci,
G. Green,
Richard J. H. Smith
|
6 |
2000 |
6
🦁
|
|
🦁
|
Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations
S. Prasad,
Karen A. Kölln,
Robert A. Cucci,
R. Trembath,
G. Camp,
Richard J. H. Smith
|
6 |
2004 |
6
🦁
|
|
🐜
|
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
13 auth.
J. Greinwald,
S. Wayne,
A. Chen,
D. Scott,
R. I. Zbar,
M. L. Kraft,
S. Prasad,
A. Ramesh,
P. Coucke,
C. Srisailapathy,
...
M. Lovett,
G. Van Camp,
Richard J. H. Smith
|
5 |
1998 |
5
🐜
|
|
🐜
|
The M34T allele variant of connexin 26.
9 auth.
Robert A. Cucci,
S. Prasad,
P. M. Kelley,
G. Green,
K. Storm,
S. Willocx,
...
E. Cohn,
G. Van Camp,
Richard J. H. Smith
|
5 |
2000 |
5
🐜
|
