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Shane McKee
171  results:
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1

MSL2 variants lead to a neurodevelopmental syndrome with la..:

Karayol, Remzi ; Borroto, Maria Carla ; Haghshenas, Sadegheh...
The American Journal of Human Genetics.  111 (2024)  7 - p. 1330-1351 , 2024
Link: https://doi.org/10.1016/..
 
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2

Prenatal genomic testing for ultrasound‐detected fetal stru..:

Reilly, Kelly ; McKenna, Caoimhe ; McCullough, Simon..
The Obstetrician & Gynaecologist.  25 (2023)  2 - p. 121-130 , 2023
Link: https://doi.org/10.1111/..
 
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3

A comparison of the Netherlands, Norway and UK familial hyp..:

Page, Christopher ; Zheng, Huiru ; Wang, Haiying...
PLOS Global Public Health.  3 (2023)  4 - p. e0001795 , 2023
Link: https://doi.org/10.1371/..
 
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4

Biallelic variants in CRIPT cause a Rothmund-Thomson-like s..:

Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel...
Genetics in Medicine.  25 (2023)  7 - p. 100836 , 2023
Link: https://doi.org/10.1016/..
 
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5

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100157 , 2023
Link: https://doi.org/10.1016/..
 
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6

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) su..:

Lines, Matthew A. ; Goldenberg, Paula ; Wong, Ashley...
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1667-1675 , 2022
Link: https://doi.org/10.1002/..
 
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7

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz..:

Migliore, Chiara ; Vendramin, Anna ; McKee, Shane...
Genes.  13 (2022)  2 - p. 252 , 2022
Link: https://doi.org/10.3390/..
 
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8

A Formative Study of the Implementation of Whole Genome Seq..:

Kerr, Katie ; McKenna, Caoimhe ; Heggarty, Shirley...
Genes.  13 (2022)  7 - p. 1104 , 2022
Link: https://doi.org/10.3390/..
 
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9

The contribution of X-linked coding variation to severe dev..:

Martin, Hilary C. ; Gardner, Eugene J. ; Samocha, Kaitlin E....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

Variants in GNAI1 cause a syndrome associated with variable..:

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H....
Genetics in Medicine.  23 (2021)  5 - p. 881-887 , 2021
Link: https://doi.org/10.1038/..
 
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11

Identification and validation of a novel pathogenic variant..:

Balachandar, Srimmitha ; Graves, Tamara J. ; Shimonty, Anika...
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 959-964 , 2021
Link: https://doi.org/10.1002/..
 
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12

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A. ; Hall, H. Nikki ; Owen, Liusaidh J....
Genetics in Medicine.  22 (2020)  3 - p. 598-609 , 2020
Link: https://doi.org/10.1038/..
 
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13

Delineation of phenotypes and genotypes related to cohesin ..:

Krab, Lianne C. ; Marcos-Alcalde, Iñigo ; Assaf, Melissa...
Human Genetics.  139 (2020)  5 - p. 575-592 , 2020
Link: https://doi.org/10.1007/..
 
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14

A scoping review and proposed workflow for multi-omic rare ..:

Kerr, Katie ; McAneney, Helen ; Smyth, Laura J....
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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15

De novo and inherited TCF20 pathogenic variants are associa..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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