|
🐜
|
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
|
8 |
2016 |
8
🐜
|
|
🐜
|
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
35 auth.
Joon-Yong An,
K. Lin,
Lingxue Zhu,
Donna M. Werling,
Shan Dong,
H. Brand,
Harold Wang,
Xuefang Zhao,
Grace B. Schwartz,
Ryan L. Collins,
Benjamin Currall,
Claudia Dastmalchi,
Jeanselle Dea,
Clif Duhn,
Michael C. Gilson,
...
L. Klei,
Lindsay Liang,
Eirene Markenscoff-Papadimitriou,
Sirisha Pochareddy,
N. Ahituv,
J. Buxbaum,
H. Coon,
M. Daly,
Young Shin Kim,
Gabor T. Marth,
B. Neale,
A. Quinlan,
J. Rubenstein,
N. Šestan,
M. State,
A. Willsey,
M. Talkowski,
B. Devlin,
K. Roeder,
Stephan J Sanders
|
8 |
2018 |
8
🐜
|
|
🐜
|
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
47 auth.
Donna M. Werling,
H. Brand,
Joon-Yong An,
M. Stone,
Lingxue Zhu,
J. Glessner,
Ryan L. Collins,
Shan Dong,
Ryan M. Layer,
Eirene Markenscoff-Papadimitriou,
Andrew Farrell,
Grace B. Schwartz,
Harold Wang,
Benjamin Currall,
Xuefang Zhao,
...
Jeanselle Dea,
Clif Duhn,
C. Erdman,
Michael C. Gilson,
Rachita Yadav,
R. Handsaker,
Seva Kashin,
L. Klei,
Jeffrey D. Mandell,
T. Nowakowski,
Yuwen Liu,
Sirisha Pochareddy,
L. Smith,
Michael F. Walker,
M. Waterman,
Xin He,
A. Kriegstein,
J. Rubenstein,
N. Šestan,
S. Mccarroll,
B. Neale,
H. Coon,
A. Willsey,
J. Buxbaum,
M. Daly,
M. State,
A. Quinlan,
Gabor T. Marth,
K. Roeder,
B. Devlin,
M. Talkowski,
Stephan J Sanders
|
7 |
2018 |
7
🐜
|
|
🐜
|
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
45 auth.
T. Aneichyk,
William T. J. Hendriks,
Rachita Yadav,
David Shin,
Dadi Gao,
Christine A. Vaine,
Ryan L. Collins,
A. Domingo,
Benjamin Currall,
A. Stortchevoi,
Trisha J. Multhaupt-Buell,
Ellen B. Penney,
Lilian Cruz,
J. Dhakal,
H. Brand,
...
Carrie Hanscom,
Caroline Antolik,
Marisela E. Dy,
A. Ragavendran,
J. Underwood,
Stuart Cantsilieris,
Katherine M. Munson,
E. Eichler,
Patrick J. Acuña,
C. Go,
R. Jamora,
R. Rosales,
D. Church,
Stephen R. Williams,
Sarah Garcia,
C. Klein,
U. Müller,
K. Wilhelmsen,
H. Timmers,
Yechiam Sapir,
Brian J. Wainger,
Daniel Henderson,
N. Ito,
N. Weisenfeld,
D. Jaffe,
N. Sharma,
X. Breakefield,
L. Ozelius,
D. Bragg,
M. Talkowski
|
7 |
2018 |
7
🐜
|
|
🐜
|
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
30 auth.
Ryan L. Collins,
H. Brand,
C. Redin,
Carrie Hanscom,
Caroline Antolik,
M. Stone,
J. Glessner,
Tamara Mason,
Giulia Pregno,
N. Dorrani,
G. Mandrile,
D. Giachino,
Danielle L Perrin,
Cole Walsh,
Michelle Cipicchio,
...
Maura Costello,
A. Stortchevoi,
Joon-Yong An,
Benjamin Currall,
C. Seabra,
A. Ragavendran,
L. Margolin,
J. Martinez-Agosto,
D. Lucente,
B. Levy,
Stephan J Sanders,
R. Wapner,
F. Quintero-Rivera,
W. Kloosterman,
M. Talkowski
|
7 |
2017 |
7
🐜
|
|
🐜
|
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
78 auth.
N. Shaw,
H. Brand,
Zachary A. Kupchinsky,
Hemant Bengani,
L. Plummer,
T. Jones,
Serkan Erdin,
K. Williamson,
J. Rainger,
A. Stortchevoi,
K. Samocha,
Benjamin Currall,
D. Dunican,
Ryan L. Collins,
J. Willer,
...
A. Lek,
M. Lek,
Malik Nassan,
S. Pereira,
T. Kammin,
D. Lucente,
Alexandra Silva,
C. Seabra,
Colby Chiang,
Yu An,
Morad Ansari,
J. Rainger,
S. Joss,
Jill Clayton Smith,
Margaret F. Lippincott,
Sylvia S. Singh,
Nirav Patel,
Jenny W Jing,
J. Law,
Nalton Ferraro,
A. Verloes,
A. Rauch,
K. Steindl,
M. Zweier,
I. Scheer,
Daisuke Sato,
N. Okamoto,
Christina M. Jacobsen,
J. Tryggestad,
S. Chernausek,
L. Schimmenti,
Benjamin Brasseur,
C. Cesaretti,
J. García-Ortiz,
Tatiana Pineda Buitrago,
Orlando Pérez Silva,
J. Hoffman,
W. Mühlbauer,
K. Ruprecht,
B. Loeys,
M. Shino,
A. Kaindl,
Chie-Hee Cho,
C. Morton,
R. Meehan,
V. van Heyningen,
E. Liao,
Ravikumar Balasubramanian,
Janet E. Hall,
S. Seminara,
D. MacArthur,
S. Moore,
K. Yoshiura,
J. Gusella,
J. Marsh,
J. Graham,
A. Lin,
N. Katsanis,
P.L. Jones,
W. Crowley,
Erica E. Davis,
D. FitzPatrick,
M. Talkowski
|
7 |
2017 |
7
🐜
|
|
🐜
|
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
9 auth.
Zehra Ordulu,
Kristen E Wong,
Benjamin Currall,
Andrew Ivanov,
S. Pereira,
S. Althari,
...
J. Gusella,
M. Talkowski,
C. Morton
|
5 |
2014 |
5
🐜
|
|
🐜
|
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
15 auth.
T. Arbogast,
Parisa Razaz,
J. Ellegood,
Spencer U McKinstry,
Serkan Erdin,
Benjamin Currall,
Tanya Aneichyk,
J. Lerch,
Lily R Qiu,
R. Rodriguiz,
...
R. M. Henkelman,
M. Talkowski,
William C. Wetsel,
C. Golzio,
N. Katsanis
|
5 |
2018 |
5
🐜
|
|
🦁
|
Mechanisms for Structural Variation in the Human Genome
Benjamin Currall,
Colby Chiangmai,
M. Talkowski,
C. Morton
|
5 |
2013 |
5
🦁
|
|
🐜
|
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
25 auth.
D. Tai,
Parisa Razaz,
Serkan Erdin,
Dadi Gao,
Jennifer Wang,
X. Nuttle,
C. D. de Esch,
Ryan L. Collins,
Benjamin Currall,
Kathryn O’Keefe,
N. Burt,
Rachita Yadav,
Lily Wang,
Kiana Mohajeri,
T. Aneichyk,
...
A. Ragavendran,
A. Stortchevoi,
E. Morini,
Weiyuan Ma,
D. Lucente,
A. Hastie,
R. J. Kelleher,
R. Perlis,
M. Talkowski,
J. Gusella
|
4 |
2022 |
4
🐜
|
