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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
149 auth.
C. Redin,
H. Brand,
Ryan L. Collins,
T. Kammin,
Elyse B Mitchell,
Jennelle C Hodge,
Carrie Hanscom,
V. Pillalamarri,
C. Seabra,
M. Abbott,
Omar Abdul-Rahman,
E. Åberg,
Rhett Adley,
S. Alcaraz-Estrada,
F. Alkuraya,
...
Y. An,
M. Anderson,
Caroline Antolik,
K. Anyane-Yeboa,
Joan F. Atkin,
Tina M Bartell,
Jonathan A Bernstein,
Elizabeth Beyer,
Ian Blumenthal,
E. Bongers,
E. H. Brilstra,
Chester W. Brown,
H. Brüggenwirth,
B. Callewaert,
Colby Chiang,
K. Corning,
H. Cox,
E. Cuppen,
Benjamin Currall,
T. Cushing,
D. David,
M. Deardorff,
A. Dheedene,
M. D’hooghe,
B. Vries,
Dawn L. Earl,
H. Ferguson,
Heather Fisher,
David R Fitzpatrick,
P. Gerrol,
D. Giachino,
J. Glessner,
Troy J. Gliem,
M. Grady,
Brett H. Graham,
Cristin Griffis,
K. Gripp,
A. Gropman,
Andrea Hanson‐Kahn,
David J Harris,
M. Hayden,
Rosamund Hill,
R. Hochstenbach,
Jodi D. Hoffman,
R. J. Hopkin,
M. W. Hubshman,
A. M. Innes,
M. Irons,
M. Irving,
J. Jacobsen,
S. Janssens,
T. Jewett,
John P Johnson,
M. Jongmans,
Stephen Kahler,
D. Koolen,
J. Korzelius,
P. Kroisel,
Y. Lacassie,
W. Lawless,
E. Lemyre,
K. Leppig,
Alex V. Levin,
Haibo Li,
Hong Li,
Eric C. Liao,
Cynthia Lim,
E. Lose,
D. Lucente,
M. Macera,
Poornima Manavalan,
G. Mandrile,
Carlo L. Marcelis,
L. Margolin,
Tamara Mason,
D. Masser-Frye,
Michael W. McClellan,
Cinthya J Zepeda Mendoza,
B. Menten,
Sjors Middelkamp,
L. Mikami,
Emily J. Moe,
S. Mohammed,
T. Mononen,
Megan Mortenson,
Graciela Moya,
A. Nieuwint,
Zehra Ordulu,
S. Parkash,
Susan P Pauker,
S. Pereira,
Danielle L Perrin,
K. Phelan,
Raul E Piña Aguilar,
P. Poddighe,
Giulia Pregno,
S. Raskin,
L. Reis,
W. Rhead,
D. Rita,
I. Renkens,
F. Roelens,
Jayla Ruliera,
P. Rump,
Samantha L. P. Schilit,
R. Shaheen,
R. Sparkes,
Erica S. Spiegel,
B. Stevens,
M. Stone,
Julia Tagoe,
J. Thakuria,
B. V. Bon,
Jiddeke van de Kamp,
I. Burgt,
T. Essen,
C. V. Ravenswaaij-Arts,
M. V. Roosmalen,
S. Vergult,
Catharina M. L. Volker-Touw,
Dorothy P Warburton,
Matthew J. Waterman,
S. Wiley,
Anna Wilson,
Maria de la Concepcion A Yerena-de Vega,
Roberto T Zori,
B. Levy,
Han G. Brunner,
N. Leeuw,
W. Kloosterman,
E. Thorland,
Cynthia C Morton,
J. Gusella,
M. Talkowski
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8 |
2016 |
8
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🐜
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Lessons learned from additional research analyses of unsolved clinical exome cases
55 auth.
M. Eldomery,
M. Eldomery,
Z. Coban-Akdemir,
T. Harel,
J. Rosenfeld,
T. Gambin,
T. Gambin,
A. Stray-Pedersen,
S. Küry,
S. Mercier,
D. Lessel,
J. Denecke,
W. Wiszniewski,
W. Wiszniewski,
S. Penney,
...
Pengfei Liu,
W. Bi,
S. Lalani,
S. Lalani,
Christian P. Schaaf,
Christian P. Schaaf,
M. Wangler,
M. Wangler,
C. Bacino,
C. Bacino,
Richard A. Lewis,
Richard A. Lewis,
L. Potocki,
L. Potocki,
Brett H. Graham,
Brett H. Graham,
John W. Belmont,
John W. Belmont,
F. Scaglia,
F. Scaglia,
Jordan S. Orange,
Jordan S. Orange,
S. Jhangiani,
T. Chiang,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
F. Xia,
A. Beaudet,
E. Boerwinkle,
E. Boerwinkle,
C. Eng,
S. Plon,
V. R. Sutton,
V. R. Sutton,
Richard A. Gibbs,
Richard A. Gibbs,
J. Posey,
Yaping Yang,
J. Lupski
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7 |
2017 |
7
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|
🐜
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Lessons learned from additional research analyses of unsolved clinical exome cases
55 auth.
M. Eldomery,
M. Eldomery,
Z. Coban-Akdemir,
T. Harel,
J. Rosenfeld,
T. Gambin,
T. Gambin,
A. Stray-Pedersen,
S. Küry,
S. Mercier,
D. Lessel,
J. Denecke,
W. Wiszniewski,
W. Wiszniewski,
S. Penney,
...
Pengfei Liu,
W. Bi,
S. Lalani,
S. Lalani,
Christian P. Schaaf,
Christian P. Schaaf,
M. Wangler,
M. Wangler,
C. Bacino,
C. Bacino,
Richard A. Lewis,
Richard A. Lewis,
L. Potocki,
L. Potocki,
Brett H. Graham,
Brett H. Graham,
John W. Belmont,
John W. Belmont,
F. Scaglia,
F. Scaglia,
Jordan S. Orange,
Jordan S. Orange,
S. Jhangiani,
T. Chiang,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
F. Xia,
A. Beaudet,
E. Boerwinkle,
E. Boerwinkle,
C. Eng,
S. Plon,
V. R. Sutton,
V. R. Sutton,
Richard A. Gibbs,
Richard A. Gibbs,
J. Posey,
Yaping Yang,
J. Lupski
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7 |
2017 |
7
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH
21 auth.
S. Dhar,
D. Gaudio,
J. German,
S. Peters,
Z. Ou,
P. Bader,
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Maria A. Blazo,
Chester W. Brown,
Brett H. Graham,
...
Theresa A. Grebe,
S. Lalani,
Mira Irons,
S. Sparagana,
M. Williams,
John A. Phillips,
A. Beaudet,
Paweł Stankiewicz,
Ankita Patel,
S. Cheung,
T. Sahoo
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7 |
2010 |
7
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Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders
14 auth.
Lindsay C Burrage,
Lillian R. Thistlethwaite,
Bridget M. Stroup,
Qin Sun,
Marcus J. Miller,
S. Nagamani,
W. Craigen,
F. Scaglia,
V. R. Sutton,
Brett H. Graham,
...
A. Kennedy,
A. Milosavljevic,
Brendan Lee,
S. Elsea
|
5 |
2019 |
5
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VUStruct: a compute pipeline for high throughput and personalized structural biology
282 auth.
Christopher W Moth,
Jonathan H. Sheehan,
Abdullah Al Mamun,
R. M. Sivley,
Alican Gulsevin,
D. Rinker,
Undiagnosed Diseases Network,
John A. Capra,
Jens Meiler,
Alyssa A. Tran,
Arjun Tarakad,
C. Bacino,
Daryl A. Scott,
Elaine Seto,
Gary D. Clark,
...
Hongzheng Dai,
Hsiao-Tuan Chao,
Ivan Chinn,
James P. Orengo,
J. Posey,
Jill A. Rosenfeld,
Kim C. Worley,
Lisa T. Emrick,
L. Potocki,
M. W. Hubshman,
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Tiphanie P Vogel,
W. Craigen,
Lauren Blieden,
Jared Sninsky,
H. Bellen,
Bcm Mosc,
M. Wangler,
O. Kanca,
Shinya Yamamoto,
Christine M. Eng,
Bcm Sequencing,
Cara Skraban,
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Gonench Kilich,
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Kelly Hassey,
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Vishnu Cuddapah,
A. Raper,
Daniel J. Rader,
Giorgio Sirugo,
A. McConkie-Rosell,
K. Schoch,
Mohamad Mikati,
N. Walley,
Rebecca C. Spillmann,
V. Shashi,
Alan H. Beggs Harvard,
C. Macrae,
David A. Sweetser Harvard,
Deepak A. Rao,
Edwin K. Silverman,
Elizabeth L. Fieg Harvard,
Frances High,
Gerard T. Berry,
Ingrid A. Holm,
J. Carl,
Pallais Harvard,
Joan M. Stoler,
Joseph Loscalzo,
Lance H. Rodan Harvard,
Laurel A. Cobban,
Lauren C Briere,
M. Coggins,
Melissa Walker,
Richard L. Maas,
Susan Korrick,
Jessica Douglas,
Harvard Jessica.Douglas,
AudreyStephannie C. Maghiro,
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Emily Glanton,
I. Kohane,
Kimberly Leblanc,
R. Mahoney,
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Brett H. Graham,
Erin Conboy,
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Khurram Liaqat,
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Mayo Clinic,
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Vairo Mayo Clinic,
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Lindsay Mulvihill,
Lisa Schimmenti,
Q. Tan,
Surendra Dasari,
A. Rebelo,
Carson A. Smith Miami,
Deborah Barbouth Miami,
G. Bademci,
Joanna M. Gonzalez Miami,
Kumarie Latchman Miami,
L. Peart,
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Stephan Zuchner,
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Sam Sheppeard,
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Daniel Wegner,
Erin McRoy,
Jennifer A. Wambach,
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Stephen C Pak,
Hector R Mendez,
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Mia Levanto,
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Sara Emami,
Laura Keehan,
Jennifer Schymick,
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L. A. Farraj,
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Brandon M Wilk,
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Jennifer Morgan,
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SanfordHealth.org,
Miranda Leitheiser,
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Brett Bordini,
Michael Zimmermann,
Abdul Elkadri,
James W. Verbsky,
J. McCarrier
|
0 |
2024 |
0
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