π
|
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
33 auth.
David T. Miller,
M. Adam,
M. Adam,
S. Aradhya,
L. Biesecker,
A. Brothman,
N. Carter,
D. Church,
J. Crolla,
E. Eichler,
C. Epstein,
W. Faucett,
L. Feuk,
J. Friedman,
A. Hamosh,
...
L. Jackson,
E. B. Kaminsky,
K. Kok,
I. Krantz,
R. Kuhn,
Charles Lee,
J. Ostell,
C. Rosenberg,
S. Scherer,
N. Spinner,
D. Stavropoulos,
J. Tepperberg,
E. Thorland,
J. Vermeesch,
D. Waggoner,
M. Watson,
C. Martin,
D. Ledbetter
|
11 |
2010 |
11 π
|
π
|
Structural variation of chromosomes in autism spectrum disorder.
35 auth.
C. Marshall,
A. Noor,
J. Vincent,
A. C. Lionel,
L. Feuk,
J. Skaug,
M. Shago,
R. Moessner,
D. Pinto,
Yan Ren,
Bhooma Thiruvahindrapduram,
A. Fiebig,
S. Schreiber,
J. Friedman,
C. Ketelaars,
...
Y. Vos,
C. Ficicioglu,
S. Kirkpatrick,
R. Nicolson,
L. Sloman,
A. Summers,
Clare A. Gibbons,
A. Teebi,
D. Chitayat,
R. Weksberg,
A. Thompson,
C. Vardy,
Victoria Crosbie,
S. Luscombe,
Rebecca Baatjes,
L. Zwaigenbaum,
W. Roberts,
B. Fernandez,
P. Szatmari,
S. Scherer
|
10 |
2008 |
10 π
|
π¦
|
Epidemiology of neurofibromatosis type 1.
J. Friedman
|
9 |
1999 |
9 π¦
|
π’
|
Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.
S. Rasmussen,
Quanhe Yang,
J. Friedman
|
8 |
2001 |
8 π’
|
π’
|
Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects.
S. Alwan,
J. Reefhuis,
S. Rasmussen,
R. Olney,
J. Friedman
|
8 |
2007 |
8 π’
|
π¬
|
A reevaluation of risk of in utero exposure to lithium.
L. Cohen,
J. Friedman,
J. Jefferson,
E. Johnson,
M. Weiner
|
8 |
1994 |
8 π¬
|
π
|
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
30 auth.
E. Legius,
L. Messiaen,
P. Wolkenstein,
Patrice Pancza,
R. Avery,
Y. Berman,
J. Blakeley,
D. BabovicβVuksanovic,
K. Cunha,
R. Ferner,
Michael Fisher,
J. Friedman,
D. Gutmann,
H. Kehrer-Sawatzki,
B. Korf,
...
V. Mautner,
S. Peltonen,
K. Rauen,
V. Riccardi,
E. Schorry,
A. Stemmer-Rachamimov,
D. Stevenson,
G. Tadini,
N. Ullrich,
D. Viskochil,
K. Wimmer,
K. Yohay,
S. Huson,
D. Evans,
S. Plotkin
|
8 |
2021 |
8 π
|
π’
|
Population-based analyses of mortality in trisomy 13 and trisomy 18.
S. Rasmussen,
L. Wong,
Quanhe Yang,
K. May,
J. Friedman
|
8 |
2003 |
8 π’
|
π
|
Evidence for multi-site closure of the neural tube in humans.
16 auth.
M. V. Van Allen,
D. Kalousek,
Gerold F. Chernoff,
D. Juriloff,
M. Harris,
B. Mcgillivray,
S. Yong,
S. Langlois,
P. Macleod,
D. Chitayat,
...
J. Friedman,
R. D. Wilson,
D. McFadden,
J. Pantzar,
S. Ritchie,
J. Hall
|
8 |
1993 |
8 π
|
π¦
|
Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
8 auth.
J. Friedman,
J. Arbiser,
Jonathan A. Epstein,
D. Gutmann,
S. Huot,
A. Lin,
...
B. McManus,
B. Korf
|
8 |
2002 |
8 π¦
|
π¬
|
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment.
M. Lammert,
J. Friedman,
L. Kluwe,
V. Mautner
|
8 |
2005 |
8 π¬
|
π
|
Diagnostic criteria for schwannomatosis
13 auth.
M. Maccollin,
E. A. Chiocca,
D. Evans,
J. Friedman,
R. Horvitz,
D. Jaramillo,
M. Lev,
V. Mautner,
M. Niimura,
S. Plotkin,
...
C. Sang,
A. Stemmer-Rachamimov,
E. Roach
|
8 |
2005 |
8 π
|
π’
|
NF1 gene and neurofibromatosis 1.
S. Rasmussen,
J. Friedman
|
8 |
2000 |
8 π’
|