|
🐬
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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
H. C. Fan,
Y. Blumenfeld,
U. Chitkara,
L. Hudgins,
S. Quake
|
10 |
2008 |
10
🐬
|
|
🐜
|
Clinical assessment incorporating a personal genome
31 auth.
E. Ashley,
A. Butte,
M. Wheeler,
Rong Chen,
T. Klein,
F. Dewey,
J. Dudley,
K. Ormond,
A. Pavlovic,
Alexander A. Morgan,
D. Pushkarev,
N. Neff,
L. Hudgins,
L. Gong,
L. Hodges,
...
D. Berlin,
C. Thorn,
K. Sangkuhl,
J. Hebert,
Mark Woon,
H. Sagreiya,
R. Whaley,
J. Knowles,
M. Chou,
J. Thakuria,
A. Rosenbaum,
A. Zaranek,
G. Church,
H. Greely,
S. Quake,
R. Altman
|
9 |
2010 |
9
🐜
|
|
🐢
|
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
M. Manning,
L. Hudgins
|
9 |
2010 |
9
🐢
|
|
🐜
|
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
18 auth.
Y. Gong,
D. Krakow,
J. Marcelino,
D. Wilkin,
D. Chitayat,
R. Babul‐Hirji,
L. Hudgins,
C. Cremers,
F. Cremers,
H. Brunner,
...
K. Reinker,
D. Rimoin,
D. Cohn,
F. Goodman,
W. Reardon,
M. Patton,
C. Francomano,
M. Warman
|
8 |
1999 |
8
🐜
|
|
🐜
|
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
12 auth.
A. Battaglia,
H. Hoyme,
B. Dallapiccola,
E. Zackai,
L. Hudgins,
D. McDonald-McGinn,
...
N. Bahi-Buisson,
C. Romano,
C. Williams,
L. Brailey,
S. Zuberi,
J. Carey
|
8 |
2008 |
8
🐜
|
|
🐜
|
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
9 auth.
K. Aldinger,
O. Lehmann,
L. Hudgins,
V. Chizhikov,
A. Bassuk,
L. Adès,
...
I. Krantz,
W. Dobyns,
K. Millen
|
7 |
2009 |
7
🐜
|
|
🐬
|
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing.
H. C. Fan,
Y. Blumenfeld,
U. Chitkara,
L. Hudgins,
S. Quake
|
7 |
2010 |
7
🐬
|
|
🐜
|
Challenges in the clinical application of whole-genome sequencing
8 auth.
K. Ormond,
M. Wheeler,
L. Hudgins,
T. Klein,
A. Butte,
R. Altman,
...
E. Ashley,
H. Greely
|
7 |
2010 |
7
🐜
|
|
🐢
|
Kabuki syndrome: a review
M. Adam,
L. Hudgins
|
7 |
2004 |
7
🐢
|
|
🐜
|
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
45 auth.
Mustapha Amyere,
N. Revencu,
R. Helaers,
Eleonore Pairet,
E. Baselga,
M. Cordisco,
W. Chung,
J. Dubois,
J. Lacour,
L. Martorell,
J. Mazereeuw-Hautier,
R. Pyeritz,
D. Amor,
A. Bisdorff,
F. Blei,
...
Hannah M Bombei,
A. Dompmartin,
D. Brooks,
J. Dupont,
M. González-Enseñat,
I. Frieden,
M. Gérard,
M. Kvarnung,
Andrea Hanson‐Kahn,
L. Hudgins,
C. Léauté-Labrèze,
C. McCuaig,
D. Metry,
P. Parent,
C. Paul,
F. Petit,
A. Phan,
I. Quéré,
A. Salhi,
A. Turner,
Pierre Vabres,
A. Vicente,
O. Wargon,
Shoji Watanabe,
L. Weibel,
Ashley Wilson,
M. Willing,
J. Mulliken,
L. Boon,
M. Vikkula
|
7 |
2017 |
7
🐜
|
|
🐜
|
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
21 auth.
R. Baxter,
Valerie A. Arboleda,
Hane Lee,
H. Barseghyan,
M. Adam,
P. Fechner,
Renee Bargman,
C. Keegan,
S. Travers,
S. Schelley,
...
L. Hudgins,
R. Mathew,
H. Stalker,
R. Zori,
O. Gordon,
L. Ramos-Platt,
A. Pawlikowska‐Haddal,
Ascia Eskin,
S. Nelson,
Emmanuèle C. Délot,
E. Vilain
|
7 |
2015 |
7
🐜
|
|
🐜
|
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors
12 auth.
R. Bennett,
A. Motulsky,
A. Bittles,
L. Hudgins,
S. Uhrich,
D. L. Doyle,
...
Kerry Silvey,
C. R. Scott,
E. Cheng,
B. McGillivray,
R. Steiner,
Debra Olson
|
7 |
2002 |
7
🐜
|
