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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
41 auth.
S. Girirajan,
J. Rosenfeld,
Bradley P. Coe,
S. Parikh,
N. Friedman,
A. Goldstein,
R. Filipink,
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B. Angle,
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G. Gowans,
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Donna M. Martin,
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K. Leppig,
Heidi A. Thiese,
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E. Åberg,
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C. Brasington,
J. Spence,
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C. Clericuzio,
B. Ballif,
L. Shaffer,
E. Eichler
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9 |
2012 |
9
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Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
45 auth.
S. Sawyer,
T. Hartley,
D. Dyment,
C. Beaulieu,
J. Schwartzentruber,
Amanda C. Smith,
H. Bedford,
G. Bernard,
F. Bernier,
B. Brais,
D. Bulman,
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D. Chitayat,
J. Deladoëy,
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P. Frosk,
M. Geraghty,
B. Gerull,
W. Gibson,
R. Gow,
G. Graham,
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E. Héon,
G. Horvath,
A. Innes,
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R. Koenekoop,
Aneal Khan,
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J. Michaud,
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J. Richer,
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8 |
2015 |
8
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
83 auth.
Frank J. Kaiser,
Morad Ansari,
D. Braunholz,
María Concepción Gil-Rodríguez,
C. Decroos,
Jonathan J. Wilde,
Christopher T. Fincher,
M. Kaur,
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N. Di Donato,
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Lauren J. Francey,
U. Gehlken,
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N. Revencu,
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Zornitza Stark,
Samuel P. Strom,
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7 |
2014 |
7
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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.
7 auth.
Terry-Lynn Young,
L. Penney,
Michael O. Woods,
P. Parfrey,
Jane Green,
D. Hefferton,
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William S. Davidson
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6 |
1999 |
6
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Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.
7 auth.
M. Cheung,
Jacqueline N. Talarchek,
Karen Schindeler,
E. Saraiva,
L. Penney,
M. Ludman,
...
J. Testa
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6 |
2013 |
6
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Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer
26 auth.
D. Gaston,
Samantha E Hansford,
Carla Oliveira,
M. Nightingale,
H. Pinheiro,
C. Macgillivray,
P. Kaurah,
A. Rideout,
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G. Soares,
Weei‐Yuarn Huang,
S. Whitehouse,
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M. LeBlanc,
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W. Greer,
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A. Orr,
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C. McMaster,
D. Huntsman,
K. Bedard
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5 |
2014 |
5
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Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
282 auth.
P. Marques,
F. Caimari,
L. Hernández-Ramírez,
D. Collier,
D. Iacovazzo,
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2020 |
5
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The complex behavioral phenotype of 15q13.3 microdeletion syndrome
21 auth.
M. Ziats,
R. Goin-Kochel,
L. Berry,
May Ali,
J. Ge,
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J. Rosenfeld,
P. Bader,
M. Gambello,
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C. Schaaf
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2016 |
5
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Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium
33 auth.
M. Aronson,
S. Gallinger,
Z. Cohen,
Shlomi Cohen,
R. Dvir,
R. Elhasid,
H. Baris,
R. Kariv,
H. Druker,
H. Chan,
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P. Kortan,
S. Holter,
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B. Heald,
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L. Penney,
A. Rideout,
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Ashraf Shamvil,
U. Tabori,
C. Durno
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5 |
2016 |
5
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A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9
14 auth.
Amanda C. Smith,
Yoko A. Ito,
Afsana Ahmed,
J. Schwartzentruber,
C. Beaulieu,
E. Åberg,
J. Majewski,
D. Bulman,
Karina Horsting-Wethly,
Diana de Koning,
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R. Rodenburg,
K. Boycott,
L. Penney,
C. C. Consortium
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2018 |
5
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