Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype by Altassan, Ruqaiah, Saud, Haya Al, Masoodi, Tariq Ahmad, Dosssari, Haya Al, Khalifa, Ola, Al‐Zaidan, Hamad, Sakati, Nadia, Rhabeeni, Zuhair, Al‐Hassnan, Zuhair, Binamer, Yousef, Alhashemi, Nadia, Wade, William, Al‐Zayed, Zayed, Al‐Sayed, Moeen, Al‐Muhaizea, Mohamed A., Meyer, Brian, Al‐Owain, Mohammad, Wakil, Salma M.

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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Meyer, Brian F., Bohlega, Said A., Al-Muhaizea, Mohamed A., Ramzan, Khushnooda, Al Qahtani, Aisha, Finsterer, Josef, Al-Ajlan, Fahad, Hagos, Samya, Monies, Dorota, Wakil, Salma M., Al Humaidy, Rawan

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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome by Monies, Dorota M, Al-Hindi, Hindi N, Al-Muhaizea, Mohamed A, Jaroudi, Dyala J, Al-Younes, Banan, Naim, Ewa A, Wakil, Salma M, Meyer, Brian F, Bohlega, Saeed

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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene by Wakil, Salma M, Monies, Dorota, Hagos, Samya, Al-Ajlan, Fahad, Finsterer, Josef, Al Qahtani, Aisha, Ramzan, Khushnooda, Al Humaidy, Rawan, Al-Muhaizea, Mohamed A, Meyer, Brian, Bohlega, Saeed A

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families by AlAbdi, Lama, Maddirevula, Sateesh, Shamseldin, Hanan E., Khouj, Ebtissal, Helaby, Rana, Hamid, Halima, Almulhim, Aisha, Hashem, Mais O., Abdulwahab, Firdous, Abouyousef, Omar, Alqahtani, Mashael, Altuwaijri, Norah, Jaafar, Amal, Alshidi, Tarfa, Alzahrani, Fatema, Alkuraya, Fowzan S.

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