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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis
29 auth.
Lei Sun,
J. Rommens,
H. Corvol,
Weili Li,
Xin Li,
T. Chiang,
Fan Lin,
R. Dorfman,
P. Busson,
R. Parekh,
D. Zélénika,
S. Blackman,
M. Corey,
Vishal K. Doshi,
Lindsay B. Henderson,
...
K. Naughton,
W. O’Neal,
R. Pace,
J. Stonebraker,
Sally D Wood,
F. Wright,
J. Zieleński,
A. Clément,
M. Drumm,
P. Böelle,
G. Cutting,
M. Knowles,
P. Durie,
L. Strug
|
7 |
2012 |
7
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|
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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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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
48 auth.
S. Martinelli,
Oliver H. F. Krumbach,
F. Pantaleoni,
Simona Coppola,
Ehsan Amin,
L. Pannone,
K. Nouri,
L. Fariña,
R. Dvorsky,
F. Lepri,
Marcel Buchholzer,
Raphael Konopatzki,
L. Walsh,
K. Payne,
M. Pierpont,
...
S. Vergano,
Katherine G. Langley,
Douglas P. Larsen,
K. Farwell,
Sha Tang,
C. Mroske,
I. Gallotta,
Elia Di Schiavi,
M. Della Monica,
L. Lugli,
C. Rossi,
M. Seri,
G. Cocchi,
Lindsay B. Henderson,
B. Baskin,
M. Alders,
R. Mendoza-Londono,
L. Dupuis,
D. Nickerson,
Jessica X. Chong,
N. Meeks,
K. Brown,
Tahnee N Causey,
M. Cho,
S. Demuth,
M. Digilio,
B. Gelb,
M. Bamshad,
M. Zenker,
M. Ahmadian,
R. Hennekam,
M. Tartaglia,
G. Mirzaa
|
7 |
2018 |
7
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|
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Recessive mutations in VPS13D cause childhood onset movement disorders
23 auth.
J. Gauthier,
I. Meijer,
D. Lessel,
N. Mencacci,
D. Krainc,
M. Hempel,
K. Tsiakas,
H. Prokisch,
E. Rossignol,
Margaret H Helm,
...
Lance H Rodan,
J. Karamchandani,
M. Carecchio,
S. Lubbe,
A. Telegrafi,
Lindsay B. Henderson,
Kerry Lorenzo,
S. Wallace,
I. Glass,
F. Hamdan,
J. Michaud,
G. Rouleau,
Philippe M. Campeau
|
6 |
2018 |
6
🐜
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|
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
41 auth.
V. Gennarino,
E. Palmer,
Laura M McDonell,
Li Wang,
Carolyn J. Adamski,
Amanda M Koire,
Lauren See,
Chun-An Chen,
C. Schaaf,
J. Rosenfeld,
J. Panzer,
U. Moog,
Shuang Hao,
A. Bye,
E. Kirk,
...
P. Stankiewicz,
Amy M. Breman,
A. McBride,
T. Kandula,
Holly A. Dubbs,
R. Macintosh,
M. Cardamone,
Ying Zhu,
Kevin Ying,
Kerith-Rae Dias,
M. Cho,
Lindsay B. Henderson,
B. Baskin,
Paula Morris,
Jiang Tao,
M. Cowley,
M. Dinger,
T. Roscioli,
O. Caluseriu,
O. Suchowersky,
R. Sachdev,
O. Lichtarge,
Jianrong Tang,
K. Boycott,
J. Holder,
H. Zoghbi
|
6 |
2018 |
6
🐜
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|
🦁
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The impact of chromosomal microarray on clinical management: a retrospective analysis
Lindsay B. Henderson,
Carolyn D. Applegate,
Elizabeth S Wohler,
M. Sheridan,
J. Hoover-Fong,
D. Batista
|
6 |
2014 |
6
🦁
|
|
🐜
|
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism
19 auth.
Linshan Shang,
Lindsay B. Henderson,
M. Cho,
Donald Petrey,
C. Fong,
K. Haude,
Natasha E. Shur,
J. Lundberg,
N. Hauser,
Jason Carmichael,
...
J. Innis,
J. Schuette,
Yvonne W Wu,
S. Asaikar,
M. Pearson,
Leandra Folk,
K. Retterer,
K. Monaghan,
W. Chung
|
6 |
2015 |
6
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|
🐜
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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
35 auth.
Y. Yoo,
Jane Jung,
Yoo-Na Lee,
Youngha Lee,
Hyosuk Cho,
Eu-jin Na,
Jeayeok Hong,
Eunjin Kim,
Jin Sook Lee,
Je Sang Lee,
Chansik Hong,
Sang-Yoon Park,
J. Wie,
Kathryn Miller,
Natasha E. Shur,
...
C. Clow,
Roseànne S Ebel,
S. Debrosse,
Lindsay B. Henderson,
R. Willaert,
C. Castaldi,
Irina R. Tikhonova,
Kaya Bilgüvar,
S. Mane,
Ki Joong Kim,
Y. Hwang,
Seok-Geun Lee,
I. So,
B. Lim,
Hee-Jung Choi,
J. Seong,
Y. Shin,
Hosung Jung,
J. Chae,
Murim Choi
|
6 |
2017 |
6
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|
|
🐜
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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
20 auth.
V. Okur,
M. Cho,
Lindsay B. Henderson,
K. Retterer,
Michael C Schneider,
S. Sattler,
D. Niyazov,
Meron Azage,
Sharon Smith,
J. Picker,
...
Sharyn A. Lincoln,
M. Tarnopolsky,
L. Brady,
H. Bjornsson,
Carolyn D. Applegate,
Amy E. Dameron,
R. Willaert,
B. Baskin,
J. Juusola,
W. Chung
|
5 |
2016 |
5
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|
|
🐜
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
94 auth.
S. Efthymiou,
V. Salpietro,
Nancy T. Malintan,
M. Poncelet,
Y. Kriouile,
Sara Fortuna,
Rita De Zorzi,
K. Payne,
Lindsay B. Henderson,
A. Cortese,
S. Maddirevula,
Nadia Alhashmi,
S. Wiethoff,
M. Ryten,
J. Botía,
...
V. Provitera,
M. Schuelke,
J. Vandrovcova,
S. Groppa,
B. Karashova,
W. Nachbauer,
S. Boesch,
L. Arning,
D. Timmann,
B. Cormand,
B. Pérez-Dueñas,
J. Goraya,
T. Sultan,
J. Mine,
D. Avdjieva,
H. Kathom,
R. Tincheva,
S. Banu,
M. Pineda-Marfa,
P. Veggiotti,
M. Ferrari,
A. M. van den Maagdenberg,
A. Verrotti,
G. Marseglia,
S. Savasta,
M. García-Silva,
A. M. Ruiz,
B. Garavaglia,
E. Borgione,
S. Portaro,
B. M. Sánchez,
R. Boles,
S. Papacostas,
M. Vikelis,
J. Rothman,
D. Kullmann,
E. Papanicolaou,
E. Dardiotis,
S. Maqbool,
S. Ibrahim,
S. Kirmani,
N. Rana,
Osama M Atawneh,
Shen-Yang Lim,
Farooq Shaikh,
G. Koutsis,
M. Breza,
S. Mangano,
C. Scuderi,
Giovanna Morello,
T. Stojkovic,
M. Zollo,
G. Heimer,
Y. Dauvilliers,
C. Minetti,
I. Al-Khawaja,
Fuad Al-Mutairi,
Sherif Hamed,
M. Pipis,
C. Bettencourt,
S. Rinaldi,
L. Walsh,
E. Torti,
V. Iodice,
Maryam Najafi,
E. G. Karimiani,
R. Maroofian,
K. Siquier-Pernet,
N. Boddaert,
P. de Lonlay,
Vincent Cantagrel,
M. Aguennouz,
M. El Khorassani,
M. Schmidts,
F. Alkuraya,
S. Edvardson,
M. Nolano,
J. Devaux,
H. Houlden
|
5 |
2019 |
5
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