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🐜
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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
41 auth.
S. Girirajan,
J. Rosenfeld,
Bradley P. Coe,
S. Parikh,
N. Friedman,
A. Goldstein,
R. Filipink,
Juliann S McConnell,
B. Angle,
W. Meschino,
M. Nezarati,
A. Asamoah,
K. Jackson,
G. Gowans,
Judith A. Martin,
...
E. Carmany,
D. Stockton,
R. Schnur,
L. Penney,
Donna M. Martin,
S. Raskin,
K. Leppig,
Heidi A. Thiese,
Rosemarie Smith,
E. Åberg,
D. Niyazov,
Luis Fernando González Escobar,
D. El-Khechen,
Kisha D Johnson,
R. Lebel,
Kiana Siefkas,
S. Ball,
Natasha E. Shur,
Marianne Mcguire,
C. Brasington,
J. Spence,
Laura S Martin,
C. Clericuzio,
B. Ballif,
L. Shaffer,
E. Eichler
|
9 |
2012 |
9
🐜
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🐬
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Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
P. Devers,
A. Cronister,
K. Ormond,
F. Facio,
C. Brasington,
P. Flodman
|
7 |
2013 |
7
🐬
|
|
🐢
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Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors
11 auth.
Kathryn B. Sheets,
Blythe G. Crissman,
C. Feist,
S. Sell,
L. R. Johnson,
Kelly C. Donahue,
...
D. Masser-Frye,
G. Brookshire,
Amanda Carré,
D. Lagrave,
C. Brasington
|
6 |
2011 |
6
🐢
|
|
🐜
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Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
12 auth.
Feng Zhang,
L. Potocki,
J. Sampson,
Pengfei Liu,
Amarilis Sanchez-Valle,
Patricia Robbins-Furman,
...
Alicia Delicado Navarro,
P. Wheeler,
J. Spence,
C. Brasington,
Marjorie A. Withers,
J. Lupski
|
6 |
2010 |
6
🐜
|
|
🐬
|
The relationship between the genetic counseling profession and the disability community: A commentary
A. Madeo,
B. Biesecker,
C. Brasington,
L. Erby,
K. Peters
|
5 |
2011 |
5
🐬
|
|
🐬
|
Balanced information about Down syndrome: What is essential?
Kathryn B. Sheets,
R. Best,
C. Brasington,
M. Will
|
5 |
2011 |
5
🐬
|
|
🐜
|
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
32 auth.
K. Platzer,
H. Sticht,
S. Edwards,
W. Allen,
Kaitlin Angione,
M. Bonati,
C. Brasington,
M. Cho,
L. Demmer,
T. Falik-Zaccai,
Candace N Gamble,
Y. Hellenbroich,
M. Iascone,
F. Kok,
S. Mahida,
...
H. Mandel,
T. Marquardt,
K. McWalter,
B. Panis,
A. Pepler,
H. Pinz,
Luiza Ramos,
D. Shinde,
C. Smith-Hicks,
A. Stegmann,
P. Stöbe,
C. Stumpel,
Carolyn Wilson,
J. Lemke,
N. Di Donato,
K. Miller,
R. Jamra
|
5 |
2019 |
5
🐜
|
|
🐜
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
22 auth.
C. Zepeda-Mendoza,
Jonas Ibn-Salem,
T. Kammin,
D. Harris,
D. Rita,
K. Gripp,
J. MacKenzie,
A. Gropman,
B. Graham,
R. Shaheen,
...
F. Alkuraya,
C. Brasington,
Edward J. Spence,
D. Masser-Frye,
L. Bird,
Erica S. Spiegel,
R. Sparkes,
Zehra Ordulu,
M. Talkowski,
Miguel Andrade,
Peter N. Robinson,
C. Morton
|
5 |
2017 |
5
🐜
|
|
🦁
|
What I Wish I Knew Then...Reflections from Personal Experiences in Counseling about Down Syndrome
C. Brasington
|
5 |
2007 |
5
🦁
|
|
🐜
|
Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study
22 auth.
J. Lavigne,
C. Sharr,
Ibrahim Elsharkawi,
A. Ozonoff,
N. Baumer,
C. Brasington,
Sheila Cannon,
Blythe G. Crissman,
E. Davidson,
J. Florez,
...
P. Kishnani,
A. Lombardo,
J. Lyerly,
Mary Ellen McDonough,
A. Schwartz,
K. Berrier,
S. Sparks,
Kara Stock-Guild,
Tomi L. Toler,
K. Vellody,
Lauren Voelz,
B. Skotko
|
5 |
2017 |
5
🐜
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