Integrated genomic characterization of ERBB2/HER2 alterations in invasive breast carcinoma: a focus on unusual FISH groups von Yang, Soo-Ryum, Bouhlal, Yosr, De La Vega, Francisco M., Ballard, Morgan, Kuo, Calvin J., Vilborg, Anna, Jensen, Greg, Allison, Kimberly

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Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency von EL EUCH-FAYACHE, Ghada, BOUHLAL, Yosr, AMOURI, Rim, FEKI, Moncef, HENTATI, Fayçal

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Abstract 54: TOMA OS-seq: A high efficiency targeted re-sequencing strategy for detecting gene amplifications, rearrangements, indels and point mutations in tumor DNA isolated from... von Bouhlal, Yosr, McKenzie, Alexander, So, Austin P.

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Abstract A2-40: TOMA OS-seq™: A high efficiency targeted resequencing strategy for detecting gene amplifications, rearrangements, indels, and point mutations in tumor DNA isolated... von Bouhlal, Yosr, McKenzie, Alexander, So, Austin P.

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Abstract 4885: TOMA OS-Seq: A clinically oriented targeted resequencing method for detecting all mutation classes in DNA isolated from FFPE, FNAs and plasma von Bouhlal, Yosr, McKenzie, Alexander, So, Austin P.

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Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview von Bouhlal, Yosr, Amouri, Rim, El Euch-Fayeche, Ghada, Hentati, Fayçal

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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity von Hammer, Monia B., Eleuch-Fayache, Ghada, Schottlaender, Lucia V., Nehdi, Houda, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Sailer, Anna, Liu, Guoxiang, Mistry, Pramod K., Cai, Huaibin, Shrader, Ginamarie, Sassi, Celeste, Bouhlal, Yosr, Houlden, Henry, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B.

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Abstract 4019: A PCR-bias free capture-based library preparation platform permitting highly accurate and sensitive CNA detection in tumor molecular profiling and liquid biopsy von Vilborg, Anna, Bouhlal, Yosr, Koheler, Ryan, Mendoza, Daniel, Goodsaid, Federico, Pouliot, Yannick, So, Austin, Vega, Francisco De La, Ji, Hanlee

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TOMA OS-Seq: An efficient oligo-selective sequencing solution to identify tumor-specific mutations and copy number alterations von Bouhlal, Yosr, Pouliot, Yannick, Stein, Jason, Ziegle, Janet, De La Vega, Francisco M., Goodsaid, Federico, So, Austin P.

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Abstract 2712: Joint somatic mutation and germline variant identification and scoring from tumor molecular profiling and ct-DNA monitoring of cancer patients by high-throughput seq... von De La Vega, Francisco M., Koehler, Ryan T., Pouliot, Yannick, Bouhlal, Yosr, So, Austin, Goodsaid, Federico, Irvine, Sean, Trigg, Len, Nadauld, Lincoln

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SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families von Hammer, Monia B., Ding, Jinhui, Mochel, Fanny, Eleuch-Fayache, Ghada, Charles, Perrine, Coutelier, Marie, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Majounie, Elisa, Clipman, Steven, Bouhlal, Yosr, Nehdi, Houda, Brice, Alexis, Hentati, Faycal, Stevanin, Giovanni, Amouri, Rim, Durr, Alexandra, Singleton, Andrew B.

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Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders von Hammer, M. B., Eleuch-Fayache, G., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Sassi, C., Bouhlal, Y., Hentati, F., Amouri, R., Singleton, A. B.

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Allelic ROBO3 Heterogeneity in Tunisian Patients with Horizontal Gaze Palsy with Progressive Scoliosis von Amouri, Rim, Nehdi, Houda, Bouhlal, Yosr, Kefi, Mounir, Larnaout, Abdelmajid, Hentati, Fayçal

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Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy von Ng, Dianna, Bouhlal, Yosr, Ursell, Philip C., Shieh, Joseph T.C.

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A robust targeted sequencing approach for low input and variable quality DNA from clinical samples von So, Austin P., Vilborg, Anna, Bouhlal, Yosr, Koehler, Ryan T., Grimes, Susan M., Pouliot, Yannick, Mendoza, Daniel, Ziegle, Janet, Stein, Jason, Goodsaid, Federico, Lucero, Michael Y., De La Vega, Francisco M., Ji, Hanlee P.

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A Novel SACS Gene Mutation in a Tunisian Family von Bouhlal, Yosr, El Euch-Fayeche, Ghada, Hentati, Fayçal, Amouri, Rim

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Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 (AOA2) in 5 Tunisian Families von Hammer, Monia Benhamed, El Euch-Fayache, Ghada, Nehdi, Houda, Saidi, Dalel, Nasri, Amira, Nabli, Fatma, Bouhlal, Yosr, Maamouri-Hicheri, Wieme, Hentati, Fayçal, Amouri, Rim

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Twin mitochondrial sequence analysis von Bouhlal, Yosr, Martinez, Selena, Gong, Henry, Dumas, Kevin, Shieh, Joseph T. C.

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Computational Analysis of a Novel SACS Gene Mutation with BioExtract Server von Bouhlal, Yosr, Jennewein, Douglas M., Anderson, Brent, Reynoldson, Joe, Maamouri, Wiem, Hentati, Fayçal, Amouri, Rim, Lushbough, Carol

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Confirmation of the Spinal Motor Neuron Gene 2 (SMN2) Copy Numbers by Real-time PCR von Wieme, Maamouri-Hicheri, Monia Ben, Hammer, Yosr, Bouhlal, Sihem, Souilem, Nawel, Toumi, Ines, Manai-Azizi, Wajdi, Bennour, Najla, Khmiri, Houda, Nahdi, Faycal, Hentati, Rim, Amouri

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