Publications:

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: C12orf57: 1A>G; rs587776954

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: C12orf57: 1A>G; rs587776954

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sallevelt, Suzanne C E H SCEH; Stegmann, Alexander P A APA; de Koning, Bart B; Velter, Crool C; Steyls, Anja A; van Esch, Melanie M; Lakeman, Phillis P; Yntema, Helger H; Esteki, Masoud Zamani MZ; de Die-Smulders, Christine E M CEM; Gilissen, Christian C; van den Wijngaard, Arthur A; Brunner, Han G HG; Paulussen, Aimée D C ADC

Publication Date: 2021-06

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 33742171

Variant Present in the following documents:

• Main text
• 41436_2021_1116_MOESM3_ESM.xlsx, sheet 1
• 41436_2021_1116_MOESM2_ESM.pdf

View BVdb publication page

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,

Publication Date: 2021-03

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 33149276

Variant Present in the following documents:

• 41436_2020_1021_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Bmc Medical Genomics

Alfares, Ahmed A; Alsubaie, Lamia L; Aloraini, Taghrid T; Alaskar, Aljoharah A; Althagafi, Azza A; Alahmad, Ahmed A; Rashid, Mamoon M; Alswaid, Abdulrahman A; Alothaim, Ali A; Eyaid, Wafaa W; Ababneh, Faroug F; Albalwi, Mohammed M; Alotaibi, Raniah R; Almutairi, Mashael M; Altharawi, Nouf N; Alsamer, Alhanouf A; Abdelhakim, Marwa M; Kafkas, Senay S; Mineta, Katsuhiko K; Cheung, Nicole N; Abdallah, Abdallah M AM; Büchmann-Møller, Stine S; Fukasawa, Yoshinori Y; Zhao, Xiang X; Rajan, Issaac I; Hoehndorf, Robert R; Al Mutairi, Fuad F; Gojobori, Takashi T; Alfadhel, Majid M

Publication Date: 2020-07-17

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 32680510

Variant Present in the following documents:

• 12920_2020_743_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.

Experimental And Therapeutic Medicine

Wang, Yanqin Y; Li, Ming M; Luo, Yuanyuan Y; Zhao, Xin X; Liao, Shuang S; Jiang, Li L; Li, Xiujuan X; Zhong, Min M

Publication Date: 2020-01

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 31853307

Variant Present in the following documents:

• Main text

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: C12orf57: M1V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nature Neuroscience

Schafer, Simon T ST; Paquola, Apua C M ACM; Stern, Shani S; Gosselin, David D; Ku, Manching M; Pena, Monique M; Kuret, Thomas J M TJM; Liyanage, Marvin M; Mansour, Abed AlFatah AA; Jaeger, Baptiste N BN; Marchetto, Maria C MC; Glass, Christopher K CK; Mertens, Jerome J; Gage, Fred H FH

Publication Date: 2019-02

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 30617258

Variant Present in the following documents:

• NIHMS1512664-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs587776954

PubMed Link: 30409984

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34815.pdf

View BVdb publication page

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 28600779

Variant Present in the following documents:

• Main text
• 439_2017_Article_1821.pdf
• 439_2017_1821_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: C12orf57: 1A>G; Met1Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

American Journal Of Human Genetics

Akizu, Naiara N; Shembesh, Nuri M NM; Ben-Omran, Tawfeg T; Bastaki, Laila L; Al-Tawari, Asma A; Zaki, Maha S MS; Koul, Roshan R; Spencer, Emily E; Rosti, Rasim Ozgur RO; Scott, Eric E; Nickerson, Elizabeth E; Gabriel, Stacey S; da Gente, Gilberto G; Li, Jiang J; Deardorff, Matthew A MA; Conlin, Laura K LK; Horton, Margaret A MA; Zackai, Elaine H EH; Sherr, Elliott H EH; Gleeson, Joseph G JG

Publication Date: 2013-03-07

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 23453666

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.

American Journal Of Human Genetics

Zahrani, Fatema F; Aldahmesh, Mohammed A MA; Alshammari, Muneera J MJ; Al-Hazzaa, Selwa A F SA; Alkuraya, Fowzan S FS

Publication Date: 2013-03-07

Variant appearance in text: C12orf57: 1A>G

PubMed Link: 23453665

Variant Present in the following documents:

• Main text

View BVdb publication page

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