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🐜
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
93 auth.
A. Stray-Pedersen,
H. Sorte,
P. Samarakoon,
T. Gambin,
Ivan K. Chinn,
Zeynep Coban Akdemir,
H. C. Erichsen,
L. Forbes,
Shen Gu,
Bo Yuan,
S. Jhangiani,
D. Muzny,
O. Rødningen,
Y. Sheng,
S. Nicholas,
...
L. Noroski,
F. Seeborg,
C. Davis,
D. Canter,
E. Mace,
T. Vece,
C. Allen,
H. Abhyankar,
Philip M Boone,
C. Beck,
W. Wiszniewski,
B. Fevang,
P. Aukrust,
G. Tjønnfjord,
T. Gedde-Dahl,
H. Hjorth-Hansen,
I. Dybedal,
I. Nordøy,
S. Jørgensen,
T. Abrahamsen,
Torstein Øverland,
A. Bechensteen,
V. Skogen,
L. Osnes,
M. Kulseth,
T. Prescott,
C. Rustad,
K. Heimdal,
J. Belmont,
N. Rider,
J. Chinen,
Tram N. Cao,
Eric A. Smith,
M. S. Caldirola,
L. Bezrodnik,
S. L. Lugo Reyes,
F. E. Espinosa Rosales,
Nina Denisse Guerrero-Cursaru,
L. A. Pedroza,
Cecilia Poli,
J. Franco,
C. M. Trujillo Vargas,
J. C. Aldave Becerra,
N. Wright,
T. Issekutz,
A. Issekutz,
J. Abbott,
J. Caldwell,
D. Bayer,
Alice Y. Chan,
A. Aiuti,
C. Cancrini,
E. Holmberg,
C. West,
Magnus Burstedt,
E. Karaca,
G. Yeşil,
H. Artaç,
Y. Bayram,
M. M. Atik,
M. Eldomery,
Mohammad S. Ehlayel,
S. Jolles,
B. Flatø,
A. Bertuch,
I. C. Hanson,
V. Zhang,
L. Wong,
Jianhong Hu,
M. Walkiewicz,
Yaping Yang,
C. Eng,
E. Boerwinkle,
R. Gibbs,
W. Shearer,
R. Lyle,
J. Orange,
J. Lupski
|
7 |
2017 |
7
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|
🦁
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Lessons learned from additional research analyses of unsolved clinical exome cases
55 auth.
M. Eldomery,
M. Eldomery,
Z. Coban-Akdemir,
T. Harel,
J. Rosenfeld,
T. Gambin,
T. Gambin,
A. Stray-Pedersen,
S. Küry,
S. Mercier,
D. Lessel,
J. Denecke,
W. Wiszniewski,
W. Wiszniewski,
S. Penney,
...
Pengfei Liu,
W. Bi,
S. Lalani,
S. Lalani,
Christian P. Schaaf,
Christian P. Schaaf,
M. Wangler,
M. Wangler,
C. Bacino,
C. Bacino,
Richard A. Lewis,
Richard A. Lewis,
L. Potocki,
L. Potocki,
Brett H. Graham,
Brett H. Graham,
John W. Belmont,
John W. Belmont,
F. Scaglia,
F. Scaglia,
Jordan S. Orange,
Jordan S. Orange,
S. Jhangiani,
T. Chiang,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
F. Xia,
A. Beaudet,
E. Boerwinkle,
E. Boerwinkle,
C. Eng,
S. Plon,
V. R. Sutton,
V. R. Sutton,
Richard A. Gibbs,
Richard A. Gibbs,
J. Posey,
Yaping Yang,
J. Lupski
|
7 |
2017 |
7
🦁
|
|
🦁
|
Lessons learned from additional research analyses of unsolved clinical exome cases
55 auth.
M. Eldomery,
M. Eldomery,
Z. Coban-Akdemir,
T. Harel,
J. Rosenfeld,
T. Gambin,
T. Gambin,
A. Stray-Pedersen,
S. Küry,
S. Mercier,
D. Lessel,
J. Denecke,
W. Wiszniewski,
W. Wiszniewski,
S. Penney,
...
Pengfei Liu,
W. Bi,
S. Lalani,
S. Lalani,
Christian P. Schaaf,
Christian P. Schaaf,
M. Wangler,
M. Wangler,
C. Bacino,
C. Bacino,
Richard A. Lewis,
Richard A. Lewis,
L. Potocki,
L. Potocki,
Brett H. Graham,
Brett H. Graham,
John W. Belmont,
John W. Belmont,
F. Scaglia,
F. Scaglia,
Jordan S. Orange,
Jordan S. Orange,
S. Jhangiani,
T. Chiang,
H. Doddapaneni,
Jianhong Hu,
D. Muzny,
F. Xia,
A. Beaudet,
E. Boerwinkle,
E. Boerwinkle,
C. Eng,
S. Plon,
V. R. Sutton,
V. R. Sutton,
Richard A. Gibbs,
Richard A. Gibbs,
J. Posey,
Yaping Yang,
J. Lupski
|
7 |
2017 |
7
🦁
|
|
🐜
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
48 auth.
T. Harel,
W. Yoon,
C. Garone,
Shen Gu,
Z. Coban-Akdemir,
M. Eldomery,
J. Posey,
S. Jhangiani,
J. Rosenfeld,
M. Cho,
S. Fox,
Marjorie A. Withers,
S. Brooks,
T. Chiang,
Lita Duraine,
...
Serkan Erdin,
Bo Yuan,
Yunru Shao,
Elie Moussallem,
C. Lamperti,
M. Donati,
Joshua D. Smith,
H. Mclaughlin,
C. Eng,
M. Walkiewicz,
F. Xia,
T. Pippucci,
P. Magini,
M. Seri,
M. Zeviani,
M. Hirano,
J. Hunter,
M. Srour,
S. Zanigni,
R. Lewis,
D. Muzny,
T. Lotze,
E. Boerwinkle,
R. Gibbs,
S. Hickey,
B. Graham,
Yaping Yang,
D. Buhas,
Donna M. Martin,
L. Potocki,
C. Graziano,
H. Bellen,
J. Lupski
|
7 |
2016 |
7
🐜
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|
🐜
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
21 auth.
T. Gambin,
Z. Akdemir,
Bo Yuan,
Shen Gu,
T. Chiang,
C. Carvalho,
C. Shaw,
S. Jhangiani,
Philip M Boone,
M. Eldomery,
...
E. Karaca,
Y. Bayram,
A. Stray-Pedersen,
D. Muzny,
W. Charng,
Vahid Bahrambeigi,
J. Belmont,
E. Boerwinkle,
A. Beaudet,
R. Gibbs,
J. Lupski
|
6 |
2016 |
6
🐜
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|
🐜
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
51 auth.
S. Lalani,
Pengfei Liu,
J. Rosenfeld,
L. Watkin,
T. Chiang,
Magalie S Leduc,
Wenmiao Zhu,
Yan Ding,
Shujuan Pan,
Francesco Vetrini,
C. Miyake,
M. Shinawi,
T. Gambin,
M. Eldomery,
Z. Akdemir,
...
Lisa T. Emrick,
Y. Wilnai,
S. Schelley,
M. Koenig,
Nada B. Memon,
Laura S. Farach,
Bradley P. Coe,
M. Azamian,
Patricia P Hernandez,
G. Zapata,
S. Jhangiani,
D. Muzny,
T. Lotze,
G. Clark,
A. Wilfong,
H. Northrup,
A. Adesina,
C. Bacino,
F. Scaglia,
P. Bonnen,
J. Crosson,
J. Duis,
G. Maegawa,
D. Coman,
Anita Inwood,
J. Mcgill,
E. Boerwinkle,
B. Graham,
A. Beaudet,
C. Eng,
N. Hanchard,
F. Xia,
J. Orange,
R. Gibbs,
J. Lupski,
Yaping Yang
|
6 |
2016 |
6
🐜
|
|
🐜
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
80 auth.
Hanyin Cheng,
Avinash V Dharmadhikari,
Sylvia Varland,
Ning Ma,
Deepti Domingo,
Robert Kleyner,
A. Rope,
Margaret Yoon,
Asbjørg Stray-Pedersen,
Asbjørg Stray-Pedersen,
J. Posey,
Sarah R Crews,
M. Eldomery,
Z. Akdemir,
Andrea M. Lewis,
...
V. Sutton,
J. Rosenfeld,
Erin Conboy,
Katherine E. Agre,
F. Xia,
F. Xia,
M. Walkiewicz,
M. Walkiewicz,
M. Walkiewicz,
M. Longoni,
F. High,
M. V. Slegtenhorst,
G. Mancini,
C. Finnila,
A. Haeringen,
N. S. Hollander,
C. Ruivenkamp,
S. Naidu,
S. Mahida,
E. Palmer,
Lucinda Murray,
D. Lim,
P. Jayakar,
M. Parker,
S. Giusto,
Emanuela Stracuzzi,
C. Romano,
Jennifer S. Beighley,
R. Bernier,
S. Küry,
M. Nizon,
M. Corbett,
M. Shaw,
A. Gardner,
C. Barnett,
R. Armstrong,
K. Kassahn,
K. Kassahn,
A. Dijck,
G. Vandeweyer,
T. Kleefstra,
J. Schieving,
M. Jongmans,
B. Vries,
R. Pfundt,
Bronwyn Kerr,
Bronwyn Kerr,
S. Rojas,
K. Boycott,
R. Person,
R. Willaert,
E. Eichler,
R. Kooy,
Yaping Yang,
Yaping Yang,
Joseph C. Wu,
J. Lupski,
T. Arnesen,
G. Cooper,
W. Chung,
J. Gécz,
H. Stessman,
Linyan Meng,
Linyan Meng,
G. Lyon
|
6 |
2018 |
6
🐜
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|
🐜
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
30 auth.
L. Burrage,
W. Charng,
M. Eldomery,
J. Willer,
E. Davis,
D. Lugtenberg,
Wenmiao Zhu,
Magalie S Leduc,
Z. Akdemir,
M. Azamian,
G. Zapata,
Patricia P Hernandez,
Jeroen Schoots,
S. D. de Munnik,
R. Roepman,
...
J. Pearring,
S. Jhangiani,
N. Katsanis,
L. Vissers,
H. Brunner,
A. Beaudet,
J. Rosenfeld,
D. Muzny,
R. Gibbs,
C. Eng,
F. Xia,
S. Lalani,
J. Lupski,
E. Bongers,
Yaping Yang
|
6 |
2015 |
6
🐜
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|
🐜
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
22 auth.
T. Harel,
G. Yeşil,
Y. Bayram,
Z. Coban-Akdemir,
W. Charng,
E. Karaca,
Ali Al asmari,
M. Eldomery,
J. Hunter,
S. Jhangiani,
...
J. Rosenfeld,
D. Pehlivan,
A. El-Hattab,
M. Saleh,
C. Leduc,
D. Muzny,
E. Boerwinkle,
R. Gibbs,
W. Chung,
Yaping Yang,
J. Belmont,
J. Lupski
|
6 |
2016 |
6
🐜
|
|
🐜
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
45 auth.
Xia Wang,
J. Posey,
J. Rosenfeld,
C. Bacino,
F. Scaglia,
L. Immken,
Jill M. Harris,
S. Hickey,
T. M. Mosher,
A. Slavotinek,
Jing Zhang,
J. Beuten,
Magalie S Leduc,
Weimin He,
Francesco Vetrini,
...
M. Walkiewicz,
W. Bi,
Rui Xiao,
Pengfei Liu,
Yunru Shao,
A. Gezdirici,
E. Gulec,
Yunyun Jiang,
S. Darilek,
Adam W. Hansen,
Michael M. Khayat,
D. Pehlivan,
J. Piard,
D. Muzny,
N. Hanchard,
J. Belmont,
L. Van Maldergem,
R. Gibbs,
M. Eldomery,
Z. Akdemir,
A. Adesina,
Shan Chen,
Yi-Chien Lee,
Brendan H. Lee,
J. Lupski,
C. Eng,
F. Xia,
Yaping Yang,
B. Graham,
P. Moretti
|
6 |
2018 |
6
🐜
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