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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
60 auth.
G. Mirzaa,
A. Timms,
V. Conti,
E. Boyle,
K. Girisha,
Beth K. Martin,
Martin Kircher,
C. Olds,
J. Juusola,
S. Collins,
Kaylee Park,
M. Carter,
I. Glass,
I. Krägeloh-Mann,
D. Chitayat,
...
A. Parikh,
R. Bradshaw,
E. Torti,
S. Braddock,
L. Burke,
S. Ghedia,
M. Stephan,
F. Stewart,
C. Prasad,
M. Napier,
S. Saitta,
R. Straussberg,
M. Gabbett,
Bridget C. O’Connor,
C. Keegan,
L. Yin,
A. Lai,
N. Martin,
M. McKinnon,
M. Addor,
L. Boccuto,
C. Schwartz,
A. Lanoel,
R. Conway,
K. Devriendt,
K. Tatton-Brown,
M. Pierpont,
M. Painter,
L. Worgan,
J. Reggin,
R. Hennekam,
K. Tsuchiya,
C. Pritchard,
M. Aracena,
K. Gripp,
M. Cordisco,
H. Van Esch,
L. Garavelli,
C. Curry,
A. Goriely,
Hulya Kayserilli,
J. Shendure,
J. Graham,
R. Guerrini,
W. Dobyns
|
7 |
2016 |
7
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Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
31 auth.
M. Nakajima,
Shuji Mizumoto,
N. Miyake,
R. Kogawa,
A. Iida,
Hironori Ito,
H. Kitoh,
Aya Hirayama,
H. Mitsubuchi,
O. Miyazaki,
R. Kosaki,
R. Horikawa,
A. Lai,
R. Mendoza-Londono,
L. Dupuis,
...
D. Chitayat,
A. Howard,
G. F. Leal,
D. Cavalcanti,
Y. Tsurusaki,
H. Saitsu,
S. Watanabe,
E. Lausch,
S. Unger,
L. Bonafė,
H. Ohashi,
A. Superti-Furga,
N. Matsumoto,
K. Sugahara,
G. Nishimura,
S. Ikegawa
|
6 |
2013 |
6
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|
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
37 auth.
Margot R. F. Reijnders,
V. Zachariadis,
B. Latour,
L. Jolly,
G. Mancini,
R. Pfundt,
Kaman Wu,
C. V. van Ravenswaaij-Arts,
H. Veenstra-Knol,
B. Anderlid,
S. Wood,
S. Cheung,
A. Barnicoat,
F. Probst,
P. Magoulas,
...
A. Brooks,
H. Malmgren,
A. Harila-Saari,
Carlo Marcelis,
M. Vreeburg,
E. Hobson,
V. Sutton,
Zornitza Stark,
J. Vogt,
N. Cooper,
J. Lim,
S. Price,
A. Lai,
Deepti Domingo,
B. Reversade,
J. Gécz,
C. Gilissen,
H. Brunner,
U. Kini,
R. Roepman,
A. Nordgren,
T. Kleefstra
|
6 |
2016 |
6
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|
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
53 auth.
Margot R. F. Reijnders,
R. Janowski,
M. Alvi,
J. Self,
T. van Essen,
M. Vreeburg,
R. Rouhl,
S. Stevens,
A. Stegmann,
J. Schieving,
R. Pfundt,
K. V. van Dijk,
E. Smeets,
C. Stumpel,
L. Bok,
...
J. Cobben,
M. Engelen,
S. Mansour,
M. Whiteford,
K. Chandler,
S. Douzgou,
N. Cooper,
E. Tan,
R. Foo,
A. Lai,
J. Rankin,
A. Green,
T. Lönnqvist,
P. Isohanni,
Shelley Williams,
Ilene S Ruhoy,
Karen S. Carvalho,
J. Dowling,
D. Lev,
K. Štěrbová,
P. Laššuthová,
J. Neupauerová,
J. Waugh,
Sotirios Keros,
J. Clayton-Smith,
S. Smithson,
H. Brunner,
Ceciel van Hoeckel,
Mellissa D. Anderson,
V. Clowes,
V. Siu,
The DDD study,
P. Selber,
R. Leventer,
C. Nellåker,
D. Niessing,
D. Hunt,
D. Baralle
|
6 |
2017 |
6
🐜
|
|
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Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
11 auth.
K. Bunn,
P. Daniel,
Heleen S Rösken,
Adam C. O’Neill,
Sophia R. Cameron-Christie,
Tim Morgan,
...
H. Brunner,
A. Lai,
H. Kunst,
D. Markie,
S. Robertson
|
6 |
2015 |
6
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|
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Williams–Beuren syndrome in diverse populations
69 auth.
P. Kruszka,
A. R. Porras,
D. H. de Souza,
A. Moresco,
Victoria Huckstadt,
A. D. Gill,
A. Boyle,
Tommy Hu,
Yonit A. Addissie,
G. T. K. Mok,
C. Tekendo-Ngongang,
K. Fieggen,
E. Prijoles,
P. Tanpaiboon,
E. Honey,
...
H. Luk,
I. Lo,
M. Thong,
Premala Muthukumarasamy,
Kelly L Jones,
K. Belhassan,
K. Ouldim,
I. El Bouchikhi,
Laila Bouguenouch,
A. Shukla,
K. Girisha,
N. Sirisena,
V. Dissanayake,
C. Paththinige,
Rupesh Mishra,
Monisha S. Kisling,
C. Ferreira,
María Beatriz de Herreros,
Ni‐Chung Lee,
S. Jamuar,
A. Lai,
E. Tan,
Jiin Ying Lim,
Cham Breana Wen-Min,
Neerja Gupta,
S. Lotz-Esquivel,
R. Badilla-Porras,
D. Hussen,
Mona O. El Ruby,
E. Ashaat,
S. Patil,
Leah Dowsett,
Alison J Eaton,
A. Innes,
V. Shotelersuk,
Ëben Badoe,
A. Wonkam,
M. G. Obregon,
B. Chung,
Milana Trubnykova,
Jorge La Serna,
Bertha E. Gallardo Jugo,
Miguel Chávez Pastor,
H. A. Abarca Barriga,
A. Mégarbané,
B. Kozel,
M. V. van Haelst,
R. Stevenson,
M. Summar,
A. Adeyemo,
C. Morris,
D. Moretti-Ferreira,
M. Linguraru,
M. Muenke
|
5 |
2018 |
5
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|
|
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
39 auth.
L. Gueneau,
R. Fish,
H. Shamseldin,
N. Voisin,
F. Tran Mau-Them,
E. Preiksaitiene,
G. Monroe,
A. Lai,
A. Putoux,
F. Allias,
Q. Ambusaidi,
L. Ambrozaitytė,
L. Cimbalistienė,
J. Delafontaine,
N. Guex,
...
M. Hashem,
W. Kurdi,
S. Jamuar,
L. J. Ying,
C. Bonnard,
T. Pippucci,
S. Pradervand,
B. Roechert,
P. V. van Hasselt,
M. Wiederkehr,
C. Wright,
I. Xenarios,
G. van Haaften,
C. Shaw-Smith,
Erica M. Schindewolf,
M. Neerman-Arbez,
D. Sanlaville,
G. Lesca,
L. Guibaud,
B. Reversade,
J. Chelly,
V. Kučinskas,
F. Alkuraya,
A. Reymond
|
5 |
2017 |
5
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|
|
🦁
|
Intussusception: a three-year review.
A. Lai,
K. Phua,
E. Teo,
A. Jacobsen
|
5 |
2002 |
5
🦁
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🐜
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Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel
11 auth.
M. Brett,
J. Mcpherson,
Z. Zang,
A. Lai,
E. Tan,
I. Ng,
...
L. Ong,
B. Cham,
P. Tan,
S. Rozen,
E. Tan
|
5 |
2014 |
5
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