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Assoum, Mirna
39  results:
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1

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2036-2047 , 2022
Link: https://doi.org/10.1002/..
 
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2

Prenatal exome sequencing and chromosomal microarray analys..:

Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina...
Human Genetics.  141 (2021)  1 - p. 101-126 , 2021
Link: https://doi.org/10.1007/..
 
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3

Novel KIAA1033/WASHC4 mutations in three patients with synd..:

Assoum, Mirna ; Bruel, Ange‐Line ; Crenshaw, Melissa L....
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 792-797 , 2020
Link: https://doi.org/10.1002/..
 
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4

A genomics approach to male infertility:

Alhathal, Naif ; Maddirevula, Sateesh ; Coskun, Serdar...
Genetics in Medicine.  22 (2020)  12 - p. 1967-1975 , 2020
Link: https://doi.org/10.1038/..
 
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5

Increased diagnostic and new genes identification outcome u..:

Orphanomix Physician's Group ; Bruel, Ange-Line ; Nambot, Sophie...
European Journal of Human Genetics.  27 (2019)  10 - p. 1519-1531 , 2019
Link: https://doi.org/10.1038/..
 
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6

Further delineation of the clinical spectrum of de novo TRI..:

Assoum, Mirna ; Lines, Matthew A. ; Elpeleg, Orly...
American Journal of Medical Genetics Part A.  176 (2018)  11 - p. 2470-2478 , 2018
Link: https://doi.org/10.1002/..
 
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7

The oculoauriculofrontonasal syndrome: Further clinical cha..:

Lehalle, Daphné ; Altunoglu, Umut ; Bruel, Ange‐Line...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2740-2750 , 2018
Link: https://doi.org/10.1002/..
 
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8

WDR73Mutations Cause Infantile Neurodegeneration and Variab..:

Vodopiutz, Julia ; Seidl, Rainer ; Prayer, Daniela...
Human Mutation.  36 (2015)  11 - p. 1021-1028 , 2015
Link: https://doi.org/10.1002/..
 
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9

PMPCAmutations cause abnormal mitochondrial protein process..:

Jobling, Rebekah K. ; Assoum, Mirna ; Gakh, Oleksandr...
Brain.  138 (2015)  6 - p. 1505-1517 , 2015
Link: https://doi.org/10.1093/..
 
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10

Rundataxin, a novel protein with RUN and diacylglycerol bin..:

Assoum, Mirna ; Salih, Mustafa A. ; Drouot, Nathalie...
Brain.  133 (2010)  8 - p. 2439-2447 , 2010
Link: https://doi.org/10.1093/..
 
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11

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous..:

Vermeer, Sascha ; Hoischen, Alexander ; Meijer, Rowdy P.P....
The American Journal of Human Genetics.  87 (2010)  6 - p. 813-819 , 2010
Link: https://doi.org/10.1016/..
 
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12

The clinical utility of rapid exome sequencing in a consang..:

Monies, Dorota ; Goljan, Ewa ; Assoum, Mirna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283251/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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13

Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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14

Lessons Learned from Large-Scale, First-Tier Clinical Exome..:

Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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15

Increased diagnostic and new genes identification outcome u..:

Bruel, Ange-Line ; Nambot, Sophie ; Quéré, Virginie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777617/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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