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Monogenic variants in dystonia: an exome-wide sequencing study
111 auth.
M. Zech,
R. Jech,
S. Boesch,
M. Škorvánek,
Sandrina Weber,
M. Wagner,
Chen Zhao,
A. Jochim,
J. Necpál,
Yasemin Dincer,
K. Vill,
F. Distelmaier,
M. Stoklosa,
M. Krenn,
S. Grunwald,
...
T. Bock-Bierbaum,
A. Fečíková,
P. Havránková,
J. Roth,
I. Příhodová,
Miriam Adamovičová,
O. Ulmanová,
K. Bechyně,
P. Danhofer,
Branislav Veselý,
V. Han,
P. Pavelekova,
Z. Gdovinová,
Tobias Mantel,
Tobias Meindl,
A. Sitzberger,
S. Schröder,
A. Blaschek,
T. Roser,
Michaela V. Bonfert,
E. Haberlandt,
B. Plecko,
Birgit Leineweber,
S. Berweck,
T. Herberhold,
B. Langguth,
J. Švantnerová,
M. Minár,
Gonzalo Alonso Ramos-Rivera,
M. Wojcik,
S. Pajusalu,
K. Õunap,
U. Schatz,
L. Pölsler,
I. Milenkovic,
F. Laccone,
V. Pilshofer,
R. Colombo,
S. Patzer,
A. Iuso,
Julia Vera,
M. Troncoso,
Fang Fang,
H. Prokisch,
Friederike Wilbert,
M. Eckenweiler,
E. Graf,
D. Westphal,
K. Riedhammer,
T. Brunet,
B. Alhaddad,
Riccardo Berutti,
T. Strom,
M. Hecht,
M. Baumann,
M. Wolf,
A. Telegrafi,
R. Person,
Francisca Millan Zamora,
Lindsay B. Henderson,
D. Weise,
T. Musacchio,
J. Volkmann,
Anna Szuto,
J. Becker,
K. Cremer,
T. Sycha,
F. Zimprich,
V. Kraus,
C. Makowski,
P. Gonzalez-Alegre,
T. Bardakjian,
L. Ozelius,
A. Vetro,
R. Guerrini,
E. Maier,
I. Borggraefe,
A. Kuster,
S. Wortmann,
A. Hackenberg,
R. Steinfeld,
B. Assmann,
C. Staufner,
T. Opladen,
E. Růžička,
R. Cohn,
D. Dyment,
W. Chung,
H. Engels,
A. Ceballos-Baumann,
R. Płoski,
O. Daumke,
B. Haslinger,
V. Mall,
K. Oexle,
J. Winkelmann
|
7 |
2020 |
7
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
62 auth.
H. Rehm,
J. Alaimo,
S. Aradhya,
P. Bayrak-Toydemir,
H. Best,
R. Brandon,
J. Buchan,
Elizabeth Chao,
E. Chen,
J. Clifford,
A. Cohen,
L. Conlin,
Soma Das,
K. W. Davis,
D. Gaudio,
...
F. del Viso,
C. Divincenzo,
M. Eisenberg,
L. Guidugli,
M. Hammer,
S. Harrison,
K. Hatchell,
L. Dyer,
Lily Hoang,
J. Holt,
V. Jobanputra,
I. Karbassi,
H. Kearney,
M. Kelly,
Jacob M. Kelly,
M. L. Kluge,
Timothy Komala,
P. Kruszka,
L. Lau,
Matthew S. Lebo,
C. Marshall,
D. McKnight,
K. McWalter,
Y. Meng,
N. Nagan,
C. Neckelmann,
N. Neerman,
Z. Niu,
V. Paolillo,
Sarah A. Paolucci,
D. Perry,
T. Pesaran,
Kelly Radtke,
Kristen J. Rasmussen,
K. Retterer,
Carol J. Saunders,
Elizabeth Spiteri,
Christina C. Stanley,
Anna Szuto,
R. Taft,
I. Thiffault,
Brittany C Thomas,
Amanda Thomas-Wilson,
Erin Thorpe,
T. Tidwell,
Meghan C Towne,
H. Zouk
|
5 |
2023 |
5
🐜
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|
🐜
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
87 auth.
B. Rinaldi,
Allan Bayat,
L. Zachariassen,
Jiahui Sun,
Yu‑Han Ge,
Dan Zhao,
Kristine Bonde,
Laura H Madsen,
Ilham Abdimunim Ali Awad,
Duygu Bagiran,
Amal Sbeih,
Syeda Maidah Shah,
Shaymaa El-Sayed,
Signe M. Lyngby,
M. G. Pedersen,
...
Charlotte Stenum-Berg,
Louise Claudia Walker,
Ilona Krey,
Andrée Delahaye-Duriez,
Lisa T. Emrick,
K. Sully,
C. Murali,
Lindsay C Burrage,
Julie Ana Plaud Gonzalez,
M. Parnes,
Jennifer Friedman,
B. Isidor,
J. Lefranc,
S. Redon,
Delphine Héron,
C. Mignot,
B. Keren,
M. Fradin,
C. Dubourg,
S. Mercier,
T. Besnard,
B. Cogné,
W. Deb,
C. Rivier,
D. Milani,
M. Bedeschi,
C. Di Napoli,
Federico Grilli,
P. Marchisio,
Suzanna V Koudijs,
D. Veenma,
E. Argilli,
S. Lynch,
Ping-Yee B Au,
Fernando Eduardo Ayala Valenzuela,
Carolyn M Brown,
D. Masser-Frye,
Marilyn Jones,
Leslie Patrón Romero,
Wenhui Laura Li,
Erin Thorpe,
L. Hecher,
J. Johannsen,
J. Denecke,
Vanda McNiven,
Anna Szuto,
E. Wakeling,
Vincent Cruz,
Valerie Sency,
Heng Wang,
J. Piard,
F. Kortüm,
Theresia Herget,
T. Bierhals,
Angelo Condell,
B. B. Zeev,
S. Kaur,
J. Christodoulou,
A. Piton,
C. Zweier,
C. Kraus,
A. Micalizzi,
M. Trivisano,
N. Specchio,
G. Lesca,
R. Møller,
Z. Tümer,
Maria Musgaard,
B. Gérard,
Johannes R. Lemke,
Y. Shi,
A. S. Kristensen
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3 |
2023 |
3
🐜
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|
🐢
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Rapid Genetic Testing in Pediatric and Neonatal Critical Care: A Scoping Review of Emerging Ethical Issues.
L. Chad,
James Anderson,
Diana Cagliero,
R. Hayeems,
Linh G Ly,
Anna Szuto
|
2 |
2022 |
2
🐢
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|
🐜
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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
19 auth.
R. Hayeems,
C. Marshall,
Meredith K. Gillespie,
Anna Szuto,
Caitlin Chisholm,
D. Stavropoulos,
V. Venkataramanan,
Kate Tsiplova,
S. Sawyer,
E. Price,
...
L. Lau,
Reem Khan,
Whiwon Lee,
Lijia Huang,
O. Jarinova,
W. Ungar,
R. Mendoza-Londono,
M. Somerville,
K. Boycott
|
1 |
2022 |
1
🐜
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|
🐜
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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
73 auth.
T. Hartley,
Élisabeth Soubry,
Meryl Acker,
M. Osmond,
Madeline Couse,
Meredith K. Gillespie,
Yoko A. Ito,
Aren E Marshall,
G. Lemire,
Lijia Huang,
Caitlin Chisholm,
Alison J Eaton,
E. Price,
J. Dowling,
Arun K. Ramani,
...
R. Mendoza-Londono,
Gregory Costain,
M. Axford,
Anna Szuto,
Vanda McNiven,
N. Damseh,
R. Jobling,
Leanne de Kock,
Bahareh A. Mojarad,
Ted Young,
Zhuo Shao,
R. Hayeems,
I. Graham,
M. Tarnopolsky,
L. Brady,
C. Armour,
M. Geraghty,
J. Richer,
S. Sawyer,
Matthew A Lines,
S. Mercimek‐Andrews,
M. Carter,
G. Graham,
P. Kannu,
J. Lazier,
Chumei Li,
R. Aul,
T. Balci,
N. Dlamini,
Lauren Badalato,
A. Guerin,
J. Walia,
D. Chitayat,
Ronald D. Cohn,
H. Faghfoury,
C. Forster-Gibson,
H. Gonorazky,
E. Grunebaum,
M. Inbar‐Feigenberg,
N. Karp,
C. Morel,
A. Rusnak,
N. Sondheimer,
J. Warman-Chardon,
Priya T. Bhola,
D. Bourque,
Inara J Chacon,
L. Chad,
P. Chakraborty,
K. Chong,
A. Doja,
E. Goh,
M. Saleh,
B. Potter,
C. Marshall,
D. Dyment,
K. Kernohan,
K. Boycott
|
1 |
2022 |
1
🐜
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|
🐜
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Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
18 auth.
W. Ungar,
R. Hayeems,
C. Marshall,
Meredith K. Gillespie,
Anna Szuto,
Caitlin Chisholm,
D. James Stavropoulos,
Lijia Huang,
O. Jarinova,
Vercancy Wu,
...
Kate Tsiplova,
Lynnette Lau,
Whiwon Lee,
V. Venkataramanan,
S. Sawyer,
R. Mendoza-Londono,
M. Somerville,
K. Boycott
|
0 |
2023 |
0
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