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🐜
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Zebrafish: a model for the study of addiction genetics
12 auth.
E. Klee,
bullet Henning,
Schneider bullet,
K. Clark,
M. Cousin,
J. Ebbert,
...
bullet W Michael,
Hooten bullet,
V. Karpyak,
bullet David,
O. Warner,
S. Ekker
|
6 |
2011 |
6
🐜
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🐜
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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
19 auth.
P. Blackburn,
Zhi Xu,
K. Tumelty,
R. Zhao,
William J Monis,
Kimberly G Harris,
J. Gass,
M. Cousin,
N. Boczek,
M. Mitkov,
...
M. Cappel,
C. Francomano,
J. Parisi,
E. Klee,
E. Faqeih,
F. Alkuraya,
M. Layne,
N. McDonnell,
P. Atwal
|
6 |
2018 |
6
🐜
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|
🐜
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Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
42 auth.
Hsiang-Chih Lu,
Hsiang-Chih Lu,
Qiumin Tan,
Maxime W. C. Rousseaux,
Wei Wang,
Ji Yoen Kim,
R. Richman,
Ying-Wooi Wan,
Szu-Ying Yeh,
Jay M Patel,
Xiuyun Liu,
Tao Lin,
Yoontae Lee,
Yoontae Lee,
J. Fryer,
...
J. Fryer,
Jing Han,
Jing Han,
Maria H. Chahrour,
Maria H. Chahrour,
R. Finnell,
Y. Lei,
M. E. Zurita-Jimenez,
Priyanka Ahimaz,
K. Anyane-Yeboa,
L. Maldergem,
D. Lehalle,
N. Jean-Marçais,
Anne-Laure Mosca-Boidron,
J. Thevenon,
M. Cousin,
D. Bro,
Brendan C Lanpher,
E. Klee,
Nora Alexander,
M. Bainbridge,
H. Orr,
R. Sillitoe,
M. Ljungberg,
Zhandong Liu,
C. Schaaf,
H. Zoghbi
|
6 |
2017 |
6
🐜
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|
🐜
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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
22 auth.
K. Lazaridis,
Kimberly A. Schahl,
M. Cousin,
D. Babovic‐Vuksanovic,
D. Riegert-Johnson,
R. Gavrilova,
Tammy M. McAllister,
N. Lindor,
R. Abraham,
M. Ackerman,
...
P. Pichurin,
D. Deyle,
D. Gavrilov,
J. L. Hand,
E. Klee,
Michael C. Stephens,
M. Wick,
E. Atkinson,
D. R. Linden,
M. Ferber,
E. Wieben,
G. Farrugia
|
6 |
2016 |
6
🐜
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|
🐜
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Arterial tortuosity syndrome: 40 new families and literature review
64 auth.
A. Beyens,
J. Albuisson,
A. Boel,
Mazen Al-Essa,
Waheed Al-Manea,
D. Bonnet,
O. Bostan,
O. Boute,
T. Busa,
N. Canham,
E. Çil,
P. Coucke,
M. Cousin,
M. Dasouki,
J. De Backer,
...
A. De Paepe,
S. de Schepper,
D. D. de Silva,
K. Devriendt,
I. de Wandele,
D. Deyle,
H. Dietz,
S. Dupuis-Girod,
E. Fontenot,
Björn Fischer-Zirnsak,
A. Gezdirici,
J. Ghoumid,
F. Giuliano,
N. B. Díez,
M. Z. Haider,
Joshua S. Hardin,
X. Jeunemaître,
E. Klee,
U. Kornak,
M. Landecho,
A. Legrand,
B. Loeys,
S. Lyonnet,
Helen Michael,
P. Moceri,
S. Mohammed,
L. Muiño-Mosquera,
S. Nampoothiri,
K. Pichler,
K. Prescott,
A. Rajeb,
M. Ramos-Arroyo,
M. Rossi,
M. Salih,
M. Z. Seidahmed,
E. Schaefer,
E. Steichen‐Gersdorf,
S. Temel,
F. Uysal,
M. Vanhomwegen,
L. Van Laer,
L. Van Maldergem,
D. Warner,
A. Willaert,
T. R. Collins,
A. Taylor,
E. Davis,
Y. Zarate,
B. Callewaert
|
6 |
2018 |
6
🐜
|
|
🦁
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
74 auth.
M. Cousin,
Blake A Creighton,
Keith A. Breau,
Rebecca C. Spillmann,
E. Torti,
Sruthi Dontu,
Swarnendu Tripathi,
Deepa Ajit,
Reginald J Edwards,
Simone Afriyie,
Julia C Bay,
Kathryn M. Harper,
Alvaro A. Beltran,
Lorena J Munoz,
Liset Falcon Rodriguez,
...
Michael C. Stankewich,
R. Person,
Y. Si,
Elizabeth A. Normand,
Amy Blevins,
Alison S. May,
Louise E Bier,
V. Aggarwal,
G. Mancini,
M. V. van Slegtenhorst,
K. Cremer,
J. Becker,
H. Engels,
S. Aretz,
J. MacKenzie,
E. Brilstra,
K. V. van Gassen,
R. V. van Jaarsveld,
R. Oegema,
Gretchen M Parsons,
P. Mark,
I. Helbig,
Sarah E. McKeown,
R. Stratton,
B. Cogné,
B. Isidor,
P. Cacheiro,
D. Smedley,
H. Firth,
T. Bierhals,
K. Kloth,
D. Weiss,
C. Fairley,
Joseph T C Shieh,
A. Kritzer,
P. Jayakar,
E. Kurtz-Nelson,
R. Bernier,
Tianyun Wang,
E. Eichler,
I. M. van de Laar,
A. McConkie-Rosell,
M. McDonald,
J. Kemppainen,
Brendan C Lanpher,
Laura E. Schultz-Rogers,
Lauren B. Gunderson,
P. Pichurin,
G. Yoon,
M. Zech,
R. Jech,
J. Winkelmann,
Adriana S. Beltran,
Michael T. Zimmermann,
Brenda R. S. Temple,
S. Moy,
E. Klee,
Q. Tan,
Damaris N. Lorenzo
|
5 |
2021 |
5
🦁
|
|
🐬
|
LeafCutterMD: an algorithm for outlier splicing detection in rare diseases
Garrett Jenkinson,
Yang I. Li,
Shubham Basu,
M. Cousin,
Gavin R. Oliver,
E. Klee
|
5 |
2020 |
5
🐬
|
|
🦁
|
Larval Zebrafish Model for FDA-Approved Drug Repositioning for Tobacco Dependence Treatment
7 auth.
M. Cousin,
J. Ebbert,
Amanda R. Wiinamaki,
Mark D. Urban,
David P. Argue,
S. Ekker,
...
E. Klee
|
5 |
2014 |
5
🦁
|
|
🦁
|
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
29 auth.
M. Cousin,
Erin Conboy,
Jian-She Wang,
Dominic Lenz,
Tanya L. Schwab,
Monique M Williams,
R. Abraham,
S. Barnett,
M. El‐Youssef,
R. Graham,
L. H. Gutierrez Sanchez,
L. Hasadsri,
G. Hoffmann,
Nathan C. Hull,
R. Kopajtich,
...
Réka Kovács-Nagy,
Jia-Qi Li,
Daniela Marx-Berger,
V. McLin,
M. McNiven,
T. Mounajjed,
H. Prokisch,
D. Rymen,
Ryan J. Schulze,
C. Staufner,
Ye Yang,
K. Clark,
Brendan C Lanpher,
E. Klee
|
5 |
2019 |
5
🦁
|
