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PubPharm (576)
71
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Sy, M.
|
Chauhan, J.
|
Prescott, K.
| +50
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72
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy
enthalten in:
Brain : a journal of neurology
| 2022
von
do Rosario, M.
|
Bey, G.
|
Nmezi, B.
| +15
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73
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Keehan, L.
|
Haviland, I.
|
Gofin, Y.
| +23
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74
Drosophila
functional screening of
de novo
variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
enthalten in:
bioRxiv.org
| 2022
von
Marcogliese, P.
|
Deal, S.
|
Andrews, J.
| +41
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75
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
enthalten in:
American journal of human genetics
| 2022
von
Hijazi, H.
|
Reis, L.
|
Pehlivan, D.
| +35
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76
Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defects
enthalten in:
Development (Cambridge, England)
| 2022
von
Seth, A.
|
Bournat, J.
|
Medina-Martinez, O.
| +6
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77
COPB2
haploinsufficiency causes a coatopathy with osteoporosis and developmental delay
enthalten in:
bioRxiv.org
| 2022
von
Marom, R.
|
Burrage, L.
|
Clément, A.
| +50
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78
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Hardcastle, A.
|
Berry, A.
|
Campbell, I.
| +43
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79
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
enthalten in:
Human mutation
| 2022
von
Lin, S.
|
Vona, B.
|
Porter, H.
| +22
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80
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
enthalten in:
American journal of human genetics
| 2022
von
Lu, S.
|
Ma, M.
|
Mao, X.
| +17
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34
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27
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24
developmental delay
20
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16
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16
epilepsy
15
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14
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14
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13
exome sequencing
13
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