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Sabir, Ataf H.
22  results:
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1

Influence of autozygosity on common disease risk across the..:

Malawsky, Daniel S. ; van Walree, Eva ; Jacobs, Benjamin M....
Cell.  186 (2023)  21 - p. 4514-4527.e14 , 2023
Link: https://doi.org/10.1016/..
 
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2

Automated reanalysis application to assist in detecting nov..:

Mensah, Nana E. ; Sabir, Ataf H. ; Bond, Andrew...
Genetics in Medicine.  24 (2022)  4 - p. 811-820 , 2022
Link: https://doi.org/10.1016/..
 
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3

Diagnostic yield of rare skeletal dysplasia conditions in t..:

Sabir, Ataf H. ; Morley, Elizabeth ; Sheikh, Jameela...
BMC Medical Genomics.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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4

Earlier detection of hypochondroplasia: A large single‐cent..:

Sabir, Ataf H. ; Sheikh, Jameela ; Singh, Ananya...
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 73-82 , 2020
Link: https://doi.org/10.1002/..
 
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5

Influence of autozygosity on common disease risk across the..:

Malawsky, Daniel S ; van Walree, Eva ; Jacobs, Benjamin M...
https://linkinghub.elsevier.com/retrieve/pii/S0092867423009182.  , 2023
Link: http://hdl.handle.net/10..
 
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6

Influence of autozygosity on common disease risk across the..:

Malawsky, Daniel S ; van Walree, Eva ; Jacobs, Benjamin M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580289/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

SCUBE3 loss-of-function causes a recognizable recessive dev..:

Lin, Yuh-Charn ; Niceta, Marcello ; Muto, Valentina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820739/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

Diagnostic yield of rare skeletal dysplasia conditions in t..:

Sabir, Ataf H ; Morley, Elizabeth ; Sheikh, Jameela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182909/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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9

ERBB4 exonic deletions on chromosome 2q34 in patients with ..:

Hyder, Zerin ; Van Paesschen, Wim ; Sabir, Ataf...
European Journal of Human Genetics.  29 (2021)  9 - p. 1377-1383 , 2021
Link: https://doi.org/10.1038/..
 
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10

Diagnostic yield of rare skeletal dysplasia conditions in t..:

Ataf H. Sabir ; Elizabeth Morley ; Jameela Sheikh...
https://doi.org/10.1186/s12920-021-00993-0.  , 2021
Link: https://doi.org/10.1186/..
 
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11

ERBB4 exonic deletions on chromosome 2q34 in patients with ..:

Hyder, Zerin ; Van Paesschen, Wim ; Sabir, Ataf...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440581/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

ERBB4 exonic deletions on chromosome 2q34 in patients with ..:

Hyder, Zerin ; Van Paesschen, Wim ; Sabir, Ataf...
Hyder , Z , Van Paesschen , W , Sabir , A , Sansbury , F H , Burke , K B , Khan , N , Chandler , K E , Cooper , N S , Wright , R , McHale , E , Van Esch , H & Banka , S 2021 , ' ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy ' , European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-021-00815-y.  , 2021
Link: https://research.manches..
 
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13

The evolving therapeutic landscape of genetic skeletal diso..:

Sabir, Ataf Hussain ; Cole, Trevor
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a..:

Kuo, Olivia ; Molloy, Kevin ; Sabir, Ataf...
Clinical and Experimental Dermatology.  , 2024
Link: https://doi.org/10.1093/..
 
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15

Case Report: Osteosclerotic metaphyseal dysplasia with opti..:

Pieridou, Chariklia ; Sabir, Ataf ; Lancashire, Jonathan...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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