|
🐢
|
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
32 auth.
Hane Lee,
Alden Huang,
Lee-Kai Wang,
A. Yoon,
Genecee Renteria,
Ascia Eskin,
Rebecca H. Signer,
N. Dorrani,
S. Nieves-Rodriguez,
Jijun Wan,
E. Douine,
Jeremy D Woods,
E. C. Dell’Angelica,
B. Fogel,
Martín G. Martín,
...
M. Butte,
Neil H. Parker,
Richard T. Wang,
P. Shieh,
Derek Wong,
N. Gallant,
Kathryn E. Singh,
Y. J. Tavyev Asher,
J. Sinsheimer,
D. Krakow,
S. Loo,
P. Allard,
J. Papp,
C. Palmer,
J. Martinez-Agosto,
S. Nelson,
Undiagnosed Diseases Network
|
7 |
2019 |
7
🐢
|
|
🐢
|
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
19 auth.
C. A. Deisseroth,
J. Birgmeier,
E. Bodle,
J. Kohler,
D. Matalon,
Yelena Nazarenko,
C. Genetti,
C. Brownstein,
K. Schmitz-Abe,
K. Schoch,
...
H. Cope,
Rebecca H. Signer,
J. Martinez-Agosto,
V. Shashi,
A. Beggs,
M. Wheeler,
J. Bernstein,
G. Bejerano,
Undiagnosed Diseases Network
|
6 |
2018 |
6
🐢
|
|
🐢
|
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
10 auth.
A. McConkie-Rosell,
S. Hooper,
L. Pena,
K. Schoch,
Rebecca C. Spillmann,
Yong-hui Jiang,
...
H. Cope,
C. Palmer,
V. Shashi,
Undiagnosed Diseases Network
|
5 |
2018 |
5
🐢
|
|
🐜
|
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
18 auth.
Debdeep Dutta,
Lauren C Briere,
O. Kanca,
P. Marcogliese,
M. Walker,
F. High,
A. Vanderver,
J. Krier,
N. Carmichael,
C. Callahan,
...
R. Taft,
Cas Simons,
G. Helman,
Undiagnosed Diseases Network,
M. Wangler,
Shinya Yamamoto,
D. Sweetser,
H. Bellen
|
4 |
2020 |
4
🐜
|
|
🐜
|
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
54 auth.
B. Ng,
E. Eklund,
S. Shiryaev,
Yin Dong,
M. Abbott,
C. Asteggiano,
M. Bamshad,
Eileen Barr,
J. Bernstein,
Shabeed Chelakkadan,
J. Christodoulou,
W. Chung,
Michael Ciliberto,
J. Cousin,
Fiona Gardiner,
...
Suman Ghosh,
William D Graf,
S. Grunewald,
Katherine C Hammond,
N. Hauser,
G. Hoganson,
Kimberly Houck,
J. Kohler,
E. Morava,
A. Larson,
Pengfei Liu,
S. Madathil,
Col Mccormack,
N. Meeks,
Rebecca L. Miller,
K. Monaghan,
D. Nickerson,
T. Palculict,
G. M. Papazoglu,
B. Pletcher,
I. Scheffer,
A. Schenone,
R. Schnur,
Y. Si,
L. Rowe,
A. S. Serrano Russi,
R. Russo,
Farouq Thabet,
A. Tuite,
María Mercedes Villanueva,
Raymond Y. Wang,
R. Webster,
D. Wilson,
Alice Zalan,
Undiagnosed Diseases Network,
L. Wolfe,
J. Rosenfeld,
Lindsay E. Rhodes,
H. Freeze
|
4 |
2020 |
4
🐜
|
|
🐜
|
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
21 auth.
P. Marcogliese,
Debdeep Dutta,
S. S. Ray,
N. Dang,
Zhongyuan Zuo,
Yuchun Wang,
Di Lu,
Fatima Fazal,
Thomas A. Ravenscroft,
Hyung-Lok Chung,
...
O. Kanca,
Jijun Wan,
E. Douine,
Undiagnosed Diseases Network,
Loren D M Pena,
Shinya Yamamoto,
S. Nelson,
M. Might,
K. Meyer,
N. C. Yeo,
H. Bellen
|
4 |
2022 |
4
🐜
|
|
🐜
|
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
25 auth.
D. Johnstone,
T. Nguyen,
J. Zambonin,
K. Kernohan,
A. St‐Denis,
N. Baratang,
T. Hartley,
M. Geraghty,
J. Richer,
J. Majewski,
E. Bareke,
A. Guerin,
Manuela Pendziwiat,
L. Pena,
H. Braakman,
...
Karen W Grip,
Andrew C. Edmondson,
M. He,
Rebecca C. Spillmann,
E. Eklund,
A. Bayat,
Undiagnosed Diseases Network,
H. McMillan,
K. Boycott,
Philippe M. Campeau
|
4 |
2020 |
4
🐜
|
|
🐜
|
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
59 auth.
Smitha Kumble,
A. M. Levy,
J. Punetha,
Hua Gao,
N. Mew,
K. Anyane-Yeboa,
P. Benke,
S. Berger,
Lise Bjerglund,
Belinda Campos-Xavier,
Michael Ciliberto,
Julie S. Cohen,
A. Comi,
C. Curry,
L. Damaj,
...
A. Denommé-Pichon,
Lisa T. Emrick,
L. Faivre,
M. Fasano,
A. Fiévet,
R. Finkel,
S. García-Miñaúr,
A. Gerard,
P. Gómez-Puertas,
M. J. Guillen Sacoto,
T. Hoffman,
Lillian Howard,
A. Iglesias,
K. Izumi,
A. Larson,
A. Leiber,
R. Lozano,
Í. Marcos-Alcalde,
Cassie S Mintz,
Sureni V. Mullegama,
R. Møller,
S. Odent,
H. Oppermann,
E. Ostergaard,
M. Pacio-Míguez,
M. Palomares-Bralo,
S. Parikh,
Anna M Paulson,
K. Platzer,
J. Posey,
L. Potocki,
Anya Revah-Politi,
M. Rio,
Alyssa L. Ritter,
S. Robinson,
J. Rosenfeld,
F. Santos-Simarro,
S. Sousa,
Undiagnosed Diseases Network,
M. Wéber,
Yili Xie,
W. Chung,
N. Brown,
Z. Tümer
|
3 |
2021 |
3
🐜
|
