Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O, Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-Zack, Mohamed D, Nassan, Malik, Al-Hassnan, Zuhair N, Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A F, Alkuraya, Fowzan S
Published in Genome research (01.02.2013)
Published in Genome research (01.02.2013)
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Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant
Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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In search of triallelism in Bardet-Biedl syndrome
ABU-SAFIEH, Leen, AL-ANAZI, Shamsa, AL-SALEM, Ahmad, ALRASHED, May, FAQEIH, Eissa, SOFTAH, Ameen, AL-HASHEM, Amal, WALI, Sami, RAHBEENI, Zuhair, ALSAYED, Moeen, KHAN, Arif O, AL-GAZALI, Lihadh, AL-ABDI, Lama, TASCHNER, Peter Em, AL-HAZZAA, Selwa, ALKURAYA, Fowzan S, HASHEM, Mais, ALKURAYA, Hisham, ALAMR, Mushari, SIRELKHATIM, Mugtaba O, AL-HASSNAN, Zuhair, ALKURAYA, Basim, MOHAMED, Jawahir Y
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
Abu-Safieh, Leen, Abboud, Emad B., Alkuraya, Hisham, Shamseldin, Hanan, Al-Enzi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Colak, Dilek, Jarallah, Abdullah, Ahmad, Hala, Bobis, Steve, Nemer, Georges, Bitar, Fadi, Alkuraya, Fowzan S.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME
Magliyah, Moustafa S, Almarek, Faisal, Nowilaty, Sawsan R, Al-Abdi, Lama, Alkuraya, Fowzan S, Alowain, Mohammed, Schatz, Patrik, Alfaadhel, Talal, Khan, Arif O, Alsulaiman, Sulaiman M
Published in Retina (Philadelphia, Pa.) (01.03.2023)
Published in Retina (Philadelphia, Pa.) (01.03.2023)
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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
Zha, Congyao, Farah, Carole A, Holt, Richard J, Ceroni, Fabiola, Al-Abdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola K, Sossin, Wayne S
Published in Human molecular genetics (04.11.2020)
Published in Human molecular genetics (04.11.2020)
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CNP deficiency causes severe hypomyelinating leukodystrophy in humans
Al-Abdi, Lama, Al Murshedi, Fathiya, Elmanzalawy, Alaa, Al Habsi, Asila, Helaby, Rana, Ganesh, Anuradha, Ibrahim, Niema, Patel, Nisha, Alkuraya, Fowzan S.
Published in Human genetics (01.05.2020)
Published in Human genetics (01.05.2020)
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Surgical Outcomes of Retinal Detachment in Knobloch Syndrome
Alzaben, Khawlah A, Mousa, Ahmed, Al-Abdi, Lama, Alkuraya, Fowzan S, Alsulaiman, Sulaiman M
Published in Ophthalmology retina (01.09.2024)
Published in Ophthalmology retina (01.09.2024)
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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A.
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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