Concomitant RAS, RET/PTC, or BRAF Mutations in Advanced Stage of Papillary Thyroid Carcinoma von Zou, Minjing, Baitei, Essa Y., Alzahrani, Ali S., BinHumaid, Faisal S., Alkhafaji, Dania, Al-Rijjal, Roua A., Meyer, Brian F., Shi, Yufei

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking von Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C., Nikoncuk, Anita, Kuhn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Dalla Rosa Vieira, Luana Gabriela, Mombach, Romulo, Ahangari, Najmeh, Damaceno Silveira, Taina Regina, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J., Kaya, Namik

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Circulating Tumour DNA Detection By The Urine-Informed Analysis Of Archival Serum Samples From Muscle-Invasive Bladder Cancer Patients von BinHumaid, Faisal S., Goel, Anshita, Gordon, Naheema S., Abbotts, Ben, Cheng, K.K., Zeegers, Maurice P., James, Nicholas D., Altaweel, Waleed M., Seyam, Raouf M., Meyer, Brian F., Arnold, Roland, Ward, Douglas G., Bryan, Richard T.

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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel von Al-Hamed, Mohamed H, Kurdi, Wesam, Alsahan, Nada, Alabdullah, Zainab, Abudraz, Rania, Tulbah, Maha, Alnemer, Maha, Khan, Rubina, Al-Jurayb, Haya, Alahmed, Ahmed, Tahir, Asma I, Khalil, Dania, Edwards, Noel, Al Abdulaziz, Basma, Binhumaid, Faisal S, Majid, Salma, Faquih, Tariq, El-Kalioby, Mohamed, Abouelhoda, Mohamed, Altassan, Nada, Monies, Dorota, Meyer, Brian, Sayer, John A, Albaqumi, Mamdouh

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KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability von Kaya, Namik, Alsagob, Maysoon, D'Adamo, Maria Cristina, Al-Bakheet, Albandary, Hasan, Sonia, Muccioli, Maria, Almutairi, Faten B, Almass, Rawan, Aldosary, Mazhor, Monies, Dorota, Mustafa, Osama M, Alyounes, Banan, Kenana, Rosan, Al-Zahrani, Jawaher, Naim, Eva, Binhumaid, Faisal S, Qari, Alya, Almutairi, Fatema, Meyer, Brian, Plageman, Timothy F, Pessia, Mauro, Colak, Dilek, Al-Owain, Mohammed

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Increased CYP24A1 expression is associated with BRAF(V600E) mutation and advanced stages in papillary thyroid carcinoma von Zou, Minjing, BinHumaid, Faisal S, Alzahrani, Ali S, Baitei, Essa Y, Al-Mohanna, Futwan A, Meyer, Brian F, Shi, Yufei

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Increased CYP24A1 expression is associated with BRAFV600E mutation and advanced stages in papillary thyroid carcinoma von Zou, Minjing, BinHumaid, Faisal S., Alzahrani, Ali S., Baitei, Essa Y., Al-Mohanna, Futwan A., Meyer, Brian F., Shi, Yufei

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking von Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C., Nikoncuk, Anita, Kuhn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Dalla Rosa Vieira, Luana Gabriela, Mombach, Romulo, Ahangari, Najmeh, Silveira, Taina Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J., Kaya, Namik

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Increased CYP 24A1 expression is associated with BRAF V600E mutation and advanced stages in papillary thyroid carcinoma von Zou, Minjing, BinHumaid, Faisal S., Alzahrani, Ali S., Baitei, Essa Y., Al‐Mohanna, Futwan A., Meyer, Brian F., Shi, Yufei

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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism von Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F, Arold, Stefan T, Monies, Dorota

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The clinical utility of rapid exome sequencing in a consanguineous population von Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H, Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F, Alkuraya, Fowzan S

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Additional file 2 of The clinical utility of rapid exome sequencing in a consanguineous population von Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H., Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F., Alkuraya, Fowzan S.

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Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism von Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F, Arold, Stefan T, Monies, Dorota

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Additional file 1 of The clinical utility of rapid exome sequencing in a consanguineous population von Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H., Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F., Alkuraya, Fowzan S.

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