|
🐜
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
182 auth.
S. Jacquemont,
A. Reymond,
Flore Zufferey,
Louise Harewood,
R. G. Walters,
Z. Kutalik,
D. Martinet,
Yiping Shen,
Armand Valsesia,
Armand Valsesia,
N. Beckmann,
G. Thorleifsson,
M. Belfiore,
S. Bouquillon,
Dominique Campion,
...
N. Leeuw,
B. Vries,
T. Esko,
Bridget A. Fernandez,
F. Fernández-Aranda,
J. Fernández-Real,
M. Gratacós,
A. Guilmatre,
Juliane Hoyer,
M. Järvelin,
R. Kooy,
A. Kurg,
C. Caignec,
K. Männik,
Orah S. Platt,
D. Sanlaville,
M. Haelst,
Sergio Gómez,
Faida Walha,
Bai-Lin Wu,
Yongguo Yu,
A. Aboura,
M. Addor,
Y. Alembik,
S. Antonarakis,
Benoît Arveiler,
M. Barth,
Nathalie Bednarek,
F. Béna,
Sven Bergmann,
M. Béri,
Laura Bernardini,
Bettina Blaumeiser,
Dominique Bonneau,
A. Bottani,
O. Boute,
H. Brunner,
D. Cailley,
P. Callier,
Jean Chiesa,
Jacqueline Chrast,
L. Coin,
C. Coutton,
J. Cuisset,
J. Cuvellier,
Albert David,
B. Fréminville,
Bruno Delobel,
M. Delrue,
B. Demeer,
Dominique Descamps,
Gérard Didelot,
K. Dieterich,
Vittoria Disciglio,
M. Doco‐Fenzy,
S. Drunat,
B. Duban‐Bedu,
C. Dubourg,
J. E. Moustafa,
P. Elliott,
Brigitte H. W. Faas,
Laurence Faivre,
A. Faudet,
Florence Fellmann,
A. Ferrarini,
Richard Fisher,
Elisabeth Flori,
L. Forer,
Dominique Gaillard,
M. Gérard,
C. Gieger,
S. Gimelli,
G. Gimelli,
H. Grabe,
A. Guichet,
O. Guillin,
Anna-Liisa Hartikainen,
Delphine Héron,
L. Hippolyte,
Muriel Holder,
G. Homuth,
B. Isidor,
S. Jaillard,
Z. Jaros,
S. Jiménez-Murcia,
Géraldine Joly Helas,
P. Jonveaux,
Satu Kaksonen,
B. Keren,
A. Kloss-Brandstätter,
N. Knoers,
D. Koolen,
P. Kroisel,
Florian Kronenberg,
A. Labalme,
E. Landais,
E. Lapi,
V. Layet,
Solenn Legallic,
B. Leheup,
Barbara Leube,
S. Lewis,
Josette Lucas,
Kay D. MacDermot,
Páll Magnússon,
Christian R. Marshall,
M. Mathieu-Dramard,
M. I. McCarthy,
T. Meitinger,
M. Mencarelli,
G. Merla,
Alexandre Moerman,
Vincent Mooser,
Fanny Morice-Picard,
M. Mucciolo,
M. Nauck,
N. Ndiaye,
Ann Nordgren,
L. Pasquier,
Florence Petit,
R. Pfundt,
G. Plessis,
E. Rajcan-Separovic,
G. Ramelli,
Anita Rauch,
Roberto Ravazzolo,
André Reis,
A. Renieri,
C. Richart,
J. Ried,
C. Rieubland,
Wendy Roberts,
K. Roetzer,
C. Rooryck,
Massimiliano Rossi,
E. Saemundsen,
V. Satre,
C. Schurmann,
E. Sigurdsson,
D. Stavropoulos,
H. Stefánsson,
Carola Tengstrom,
U. Thorsteinsdóttir,
F. Tinahones,
Renaud Touraine,
Louis Vallée,
E. V. Binsbergen,
N. Aa,
C. Vincent-Delorme,
S. Visvikis-Siest,
P. Vollenweider,
H. Völzke,
Anneke T. Vulto-van Silfhout,
G. Waeber,
Carina Wallgren-Pettersson,
R. Witwicki,
Simon Zwolinksi,
J. Andrieux,
Xavier Estivill,
J. Gusella,
Ó. Gústafsson,
A. Metspalu,
Stephen W. Scherer,
K. Stefansson,
A. Blakemore,
Jacques S. Beckmann,
P. Froguel
|
7 |
2011 |
7
🐜
|
|
🐢
|
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
17 auth.
Melissa T. Carter,
S. Nikkel,
Bridget A. Fernandez,
Christian R. Marshall,
A. Noor,
A. C. Lionel,
A. C. Lionel,
Aparna Prasad,
Dalila Pinto,
Ann M. Joseph-George,
...
Carolyn Noakes,
C. Fairbrother-Davies,
Wendy Roberts,
John B. Vincent,
Rosanna Weksberg,
Stephen W. Scherer,
Stephen W. Scherer
|
6 |
2011 |
6
🐢
|
|
🐜
|
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
38 auth.
Ammar Chaudhry,
A. Noor,
Bryan Degagne,
Kate Baker,
L. A. Bok,
Angela F. Brady,
D. Chitayat,
Brian H.Y. Chung,
C. Cytrynbaum,
D. Dyment,
I. Filges,
B. Helm,
H. T. Hutchison,
L. Jeng,
F. Laumonnier,
...
Christian R. Marshall,
M. Menzel,
Sandhya Parkash,
Sandhya Parkash,
Michael Parker,
Laure Raymond,
A. L. Rideout,
W. Roberts,
R. Rupps,
I. Schanze,
C. Schrander-Stumpel,
M. Speevak,
D. Stavropoulos,
S. Stevens,
Ellen R A Thomas,
Annick Toutain,
S. Vergano,
Rosanna Weksberg,
Stephen W. Scherer,
John B. Vincent,
John B. Vincent,
Melissa T. Carter,
Melissa T. Carter
|
6 |
2015 |
6
🐜
|
|
🐢
|
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
53 auth.
M. Reuter,
S. Walker,
B. Thiruvahindrapuram,
J. Whitney,
I. Cohn,
N. Sondheimer,
R. Yuen,
B. Trost,
Tara A. Paton,
S. Pereira,
J. Herbrick,
R. Wintle,
D. Merico,
J. Howe,
J. MacDonald,
...
Chao Lu,
T. Nalpathamkalam,
W. Sung,
Zhuozhi Wang,
R. Patel,
G. Pellecchia,
John Wei,
L. Strug,
S. Bell,
B. Kellam,
M. Mahtani,
Anne S. Bassett,
Yvonne Bombard,
R. Weksberg,
C. Shuman,
Ronald D. Cohn,
D. Stavropoulos,
S. Bowdin,
Matthew R. Hildebrandt,
Wei Wei,
A. Romm,
P. Pasceri,
James Ellis,
P. Ray,
M. Meyn,
N. Monfared,
S. Hosseini,
Ann M. Joseph-George,
Fred W. Keeley,
Ryan A. Cook,
M. Fiume,
Hin C Lee,
Christian R. Marshall,
Jill Davies,
Allison Hazell,
J. Buchanan,
M. Szego,
Stephen W. Scherer
|
5 |
2018 |
5
🐢
|
|
🐜
|
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
25 auth.
M. Reuter,
R. Chaturvedi,
Eriskay J Liston,
R. Manshaei,
R. Aul,
S. Bowdin,
I. Cohn,
M. Curtis,
Priya Dhir,
R. Hayeems,
S. M. Hosseini,
Reem Khan,
Linh G Ly,
Christian R. Marshall,
Christian R. Marshall,
...
L. Mertens,
John B A Okello,
S. Pereira,
Akshaya Raajkumar,
M. Seed,
B. Thiruvahindrapuram,
Stephen W. Scherer,
Stephen W. Scherer,
R. Kim,
R. Jobling
|
5 |
2020 |
5
🐜
|
|
🐜
|
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
25 auth.
M. Reuter,
R. Chaturvedi,
Eriskay J Liston,
R. Manshaei,
R. Aul,
S. Bowdin,
I. Cohn,
M. Curtis,
Priya Dhir,
R. Hayeems,
S. M. Hosseini,
Reem Khan,
Linh G Ly,
Christian R. Marshall,
Christian R. Marshall,
...
L. Mertens,
John B A Okello,
S. Pereira,
Akshaya Raajkumar,
M. Seed,
B. Thiruvahindrapuram,
Stephen W. Scherer,
Stephen W. Scherer,
R. Kim,
R. Jobling
|
5 |
2020 |
5
🐜
|
|
🐜
|
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
248 auth.
A. Docherty,
N. Mullins,
Allison E Ashley-Koch,
Xue J. Qin,
Jonathan R. I. Coleman,
A. Shabalin,
Jooeun Kang,
Balasz Murnyak,
Frank R Wendt,
Mark J Adams,
A. Campos,
E. DiBlasi,
J. Fullerton,
H. Kranzler,
A. Bakian,
...
Eric T. Monson,
Miguel E. Rentería,
C. Walss-Bass,
O. Andreassen,
Chittaranjan Behera,
C. M. Bulik,
H. Edenberg,
Ronald C. Kessler,
J. Mann,
J. Nurnberger,
G. Pistis,
F. Streit,
R. Ursano,
R. Polimanti,
Michelle F. Dennis,
Melanie Garrett,
Lauren P. Hair,
Philip D. Harvey,
Elizabeth R. Hauser,
Michael A. Hauser,
Jennifer Huffman,
Daniel Jacobson,
R. Madduri,
B. McMahon,
David W. Oslin,
Jodie Trafton,
S. Awasthi,
W. Berrettini,
M. Bohus,
Xiao Chang,
Hsi-Chung Chen,
Wei J. Chen,
Erik D. Christensen,
S. Crow,
P. Duriez,
Alexis C. Edwards,
F. Fernández-Aranda,
H. Galfalvy,
M. Gandal,
P. Gorwood,
Yiran Guo,
J. Hafferty,
H. Hakonarson,
K. Halmi,
A. Hishimoto,
Sonia Jain,
S. Jamain,
S. Jiménez-Murcia,
Craig L. Johnson,
Allan S. Kaplan,
Walter H. Kaye,
P. Keel,
J. L. Kennedy,
Minsoo Kim,
K. Klump,
D. Levey,
Dong Li,
Shih-Cheng Liao,
K. Lieb,
L. Lilenfeld,
Christian R. Marshall,
James E. Mitchell,
S. Okazaki,
Ikuo Otsuka,
D. Pinto,
A. Powers,
N. Ramoz,
S. Ripke,
Stefan Roepke,
V. Rozanov,
Stephen W. Scherer,
C. Schmahl,
M. Sokolowski,
A. Starnawska,
Michael Strober,
Mei-Hsin Su,
L. Thornton,
J. Treasure,
E. Ware,
Hunna J. Watson,
S. Witt,
D. Woodside,
Z. Yilmaz,
L. Zillich,
R. Adolfsson,
I. Agartz,
M. Alda,
L. Alfredsson,
V. Appadurai,
M. Artigas,
S. Van der Auwera,
M. Azevedo,
N. Bass,
Claiton H.D. Bau,
B. Baune,
F. Bellivier,
K. Berger,
J. Biernacka,
T. Bigdeli,
E. Binder,
M. Boehnke,
M. Boks,
D. Braff,
Richard A. Bryant,
M. Budde,
Enda M. Byrne,
W. Cahn,
E. Castelao,
J. Cervilla,
B. Chaumette,
A. Corvin,
N. Craddock,
S. Djurovic,
J. Foo,
A. Forstner,
M. Frye,
J. Gatt,
I. Giegling,
H. Grabe,
Melissa J. Green,
E. Grevet,
M. Grigoroiu-Serbanescu,
Blanca Gutiérrez,
J. Guzmán-Parra,
M. Hamshere,
A. Hartmann,
Joanna Hauser,
S. Heilmann-Heimbach,
Per Hoffmann,
M. Ising,
Ian Jones,
L. Jones,
Lina Jonsson,
René S. Kahn,
J. Kelsoe,
K. Kendler,
S. Kloiber,
K. Koenen,
Manolis Kogevinas,
Marie-Odile Krebs,
M. Landén,
M. Leboyer,
Phil H. Lee,
D. Levinson,
C. Liao,
J. Lissowska,
F. Mayoral,
Susan L McElroy,
Patrick McGrath,
P. McGuffin,
A. McQuillin,
D. Mehta,
I. Melle,
Philip B Mitchell,
E. Molina,
G. Morken,
C. Nievergelt,
M. Nöthen,
M. O’Donovan,
R. Ophoff,
Michael J. Owen,
C. Pato,
M. Pato,
B. Penninx,
J. Potash,
R. Power,
M. Preisig,
D. Quested,
J. Ramos-Quiroga,
A. Reif,
M. Ribasés,
V. Richarte,
M. Rietschel,
M. Rivera,
Andrea Roberts,
Gloria Roberts,
G. Rouleau,
D. Rovaris,
A. Sanders,
P. R. Schofield,
Thomas G. Schulze,
Laura J. Scott,
Alessandro Serretti,
Jianxin Shi,
L. Sirignano,
P. Sklar,
O. Smeland,
J. Smoller,
E. Sonuga-Barke,
M. Trzaskowski,
M. Tsuang,
Gustavo Turecki,
L. Vilar-Ribó,
John B. Vincent,
H. Völzke,
James T. R. Walters,
C. Weickert,
T. Weickert,
Myrna M. Weissman,
Leanne M. Williams,
N. Wray,
C. Zai,
E. Agerbo,
A. Børglum,
G. Breen,
D. Demontis,
A. Erlangsen,
J. Gelernter,
S. Glatt,
D. Hougaard,
H. Hwu,
Po-Hsiu Kuo,
Cathryn M Lewis,
Qingqin S Li,
Chih-Min Liu,
N. G. Martin,
Andrew M. McIntosh,
S. Medland,
O. Mors,
M. Nordentoft,
Catherine M Olsen,
D. Porteous,
Daniel J. Smith,
Eli A. Stahl,
Murray B. Stein,
Danuta Wasserman,
T. Werge,
D. Whiteman,
V. Willour,
Hilary Coon,
J. Beckham,
N. Kimbrel,
D. Ruderfer
|
5 |
2023 |
5
🐜
|
|
🐢
|
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
17 auth.
Susan M. Goobie,
J. Knijnenburg,
David Fitzpatrick,
F. Sharkey,
A. C. Lionel,
C. Marshall,
T. Azam,
M. Shago,
K. Chong,
R. Mendoza-Londono,
...
N. S. Hollander,
C. Ruivenkamp,
E. Maher,
H. Tanke,
K. Szuhai,
R. Wintle,
Stephen W. Scherer
|
5 |
2009 |
5
🐢
|
|
🐜
|
Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study
13 auth.
I. Cohn,
Tara A. Paton,
C. Marshall,
R. Basran,
D. Stavropoulos,
Peter N. Ray,
N. Monfared,
R. Hayeems,
M. Meyn,
S. Bowdin,
...
Stephen W. Scherer,
Ronald D. Cohn,
S. Ito
|
5 |
2017 |
5
🐜
|
