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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
45 auth.
Xia Wang,
J. Posey,
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2018 |
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
241 auth.
Samantha M. Baxter,
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2021 |
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A Genocentric Approach to Discovery of Mendelian Disorders.
56 auth.
Adam W. Hansen,
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4 |
2019 |
4
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Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation
24 auth.
Adam W. Hansen,
P. Arora,
Michael M. Khayat,
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Andrea M. Lewis,
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Ingrid Cristian,
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4 |
2020 |
4
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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome
17 auth.
Michael M. Khayat,
Varuna Chander,
Jianhong Hu,
Adam W. Hansen,
Shoudong Li,
Josh Traynelis,
Hua Shen,
G. Weissenberger,
F. Stossi,
Hannah L. Johnson,
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J. Lupski,
J. Posey,
A. Sabo,
Q. Meng,
David R. Murdock,
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3 |
2021 |
3
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Causes and Risk Factors of Pediatric Spontaneous Intracranial Hemorrhage—A Systematic Review
7 auth.
U. M. Ciochon,
Julie Brix Bindslev,
C. Hoei-Hansen,
T. Truelsen,
V. Larsen,
M. B. Nielsen,
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Adam W. Hansen
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3 |
2022 |
3
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RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
30 auth.
C. Brownstein,
Richard S. Smith,
Lance H Rodan,
M. Gorman,
M. Hojlo,
Emily A Garvey,
Jianqiao Li,
Kristin Cabral,
Joshua Bowen,
Abhijit S Rao,
C. Genetti,
Devon Carroll,
Emma A. Deaso,
P. Agrawal,
J. Rosenfeld,
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W. Bi,
J. Howe,
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Adam W. Hansen,
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D. Glahn,
J. Gonzalez-Heydrich
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3 |
2021 |
3
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