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Dabir, Tabib
76  results:
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1

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1626-1642 , 2024
Link: https://doi.org/10.1016/..
 
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2

Clinical practice guidelines for the diagnosis and surveill..:

Lalloo, Fiona ; Kulkarni, Anju ; Chau, Cindy...
European Journal of Human Genetics.  31 (2023)  11 - p. 1261-1269 , 2023
Link: https://doi.org/10.1038/..
 
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3

A Palindrome-Like Structure on 16p13.3 Is Associated with t..:

Pagnamenta, Alistair T. ; Yu, Jing ; Willis, Tracey A....
Human Mutation.  2023 (2023)  - p. 1-9 , 2023
Link: https://doi.org/10.1155/..
 
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4

Novel Variants of SOX4 in Patients with Intellectual Disabi..:

Grosse, Martin ; Kuechler, Alma ; Dabir, Tabib...
International Journal of Molecular Sciences.  24 (2023)  4 - p. 3519 , 2023
Link: https://doi.org/10.3390/..
 
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5

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders.  39 (2023)  1 - p. 141-151 , 2023
Link: https://doi.org/10.1002/..
 
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6

UK consensus recommendations for clinical management of can..:

Hanson, Helen ; Kulkarni, Anjana ; Loong, Lucy...
Journal of Medical Genetics.  60 (2022)  5 - p. 417-429 , 2022
Link: https://doi.org/10.1136/..
 
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7

Evaluation of tumour surveillance protocols and outcomes in..:

Maher, Eamonn R. ; Adlard, Julian ; Barwell, Julian...
British Journal of Cancer.  126 (2022)  9 - p. 1339-1345 , 2022
Link: https://doi.org/10.1038/..
 
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8

Haploinsufficiency of ARFGEF1 is associated with developmen..:

Thomas, Quentin ; Gautier, Thierry ; Marafi, Dana...
Genetics in Medicine.  23 (2021)  10 - p. 1901-1911 , 2021
Link: https://doi.org/10.1038/..
 
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9

DOORS syndrome and a recurrent truncating ATP6V1B2 variant:

Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F....
Genetics in Medicine.  23 (2021)  1 - p. 149-154 , 2021
Link: https://doi.org/10.1038/..
 
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10

Correction: DOORS syndrome and a recurrent truncating ATP6V..:

Beauregard-Lacroix, Eliane ; Pacheco-Cuellar, Guillermo ; Ajeawung, Norbert F....
Genetics in Medicine.  23 (2021)  1 - p. 237 , 2021
Link: https://doi.org/10.1038/..
 
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11

Surveillance recommendations for DICER1 pathogenic variant ..:

Bakhuizen, Jette J. ; Hanson, Helen ; van der Tuin, Karin...
Familial Cancer.  20 (2021)  4 - p. 337-348 , 2021
Link: https://doi.org/10.1007/..
 
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12

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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13

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, Joanna ; Samocha, Kaitlin E. ; Wiel, Laurens...
Nature.  586 (2020)  7831 - p. 757-762 , 2020
Link: https://doi.org/10.1038/..
 
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14

Risk factors for congenital heart disease: The Baby Hearts ..:

Dolk, Helen ; McCullough, Nichola ; Callaghan, Sinead...
PLOS ONE.  15 (2020)  2 - p. e0227908 , 2020
Link: https://doi.org/10.1371/..
 
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15

Growth disrupting mutations in epigenetic regulatory molecu..:

Jeffries, Aaron R. ; Maroofian, Reza ; Salter, Claire G....
Genome Research.  29 (2019)  7 - p. 1057-1066 , 2019
Link: https://doi.org/10.1101/..
 
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