PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2020.00199202129147-50Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a CASR Mutation Detected Using Whole Exome SequencingSeong Bae Ahn, Sung Han Shim, Eun-Gyong Yoo, Mo Kyung Jung, Kyu Young Chaehttp://annchildneurol.org/upload/pdf/acn-2020-00199.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2020.00199, http://annchildneurol.org/upload/pdf/acn-2020-00199.pdf
Endocrine Practice10.1016/s1530-891x(20)42477-2201521299Abstract #1246: Asymptomatic Hypocalcemia Secondary to Autosomal Dominant Enhancing Mutation of the Calcium Sensing Protein (CASR)Victoria Loseva, Abosede Adeoshun, Jon Levine, James Sullivanhttps://api.elsevier.com/content/article/PII:S1530891X20424772?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1530891X20424772?httpAccept=text/plain
10.21203/rs.2.23720/v12020The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patientsFang Peng, Yue Zhang, Xin-Yue Zhou, Shuai-Qi Huang, Chen Chen, Zheng-Tong Ding, Jian Wang, Yi-Min Sun, Jianjun Wuhttps://www.researchsquare.com/article/rs-14285/v1, https://www.researchsquare.com/article/rs-14285/v1.html
Endocrine Practice10.1016/s1530-891x(20)46517-620192545-46Abstract #173 Autosomal Dominant Hypocalcemia: A Novel Activating Mutation NM_000388.3(CASR):C.825 T>A P.(ASP 275 GLU) In the Calcium-Sensing Receptor GeneSantosh Chaubey, Kunwarjit Sanglahttps://api.elsevier.com/content/article/PII:S1530891X20465176?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1530891X20465176?httpAccept=text/plain
Clinica Chimica Acta10.1016/j.cca.2016.05.024201645973-78A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactylyGuolin You, Haiqing Cai, Limin Jiang, Zhaojing Zheng, Bo Wang, Qihua Fu, Jing Wanghttps://api.elsevier.com/content/article/PII:S0009898116302364?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0009898116302364?httpAccept=text/plain
Human Mutation10.1002/1098-1004(200010)16:4<281::aid-humu1>3.0.co;2-a2000164281-296Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemiaGeoffrey N. Hendy, Lilia D'Souza-Li, Bing Yang, Lucie Canaff, David E.C. Colehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F1098-1004(200010)16:4%3C281::AID-HUMU1%3E3.0.CO;2-A, https://onlinelibrary.wiley.com/doi/full/10.1002/1098-1004(200010)16:4%3C281::AID-HUMU1%3E3.0.CO;2-A
Endocrine Practice10.1016/j.eprac.2022.03.2342022285S98Abstract #1185091: Missense Mutation in the CASR Gene, Unexpected Diagnosis of Autosomal Dominant Hypocalcemia in a Middle Aged WomanScott Mazurek, Saleh Aldasouqi, Ahmad abu Limon, Wassim Noureddine, Soroush Samani, George Hebdonhttps://api.elsevier.com/content/article/PII:S1530891X22003226?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1530891X22003226?httpAccept=text/plain
Journal of the Endocrine Society10.1210/jendso/bvaa190202053Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD DeficiencyTomoya Tsuji, Ariyasu Hiroyuki, Shinsuke Uraki, Asako Doi, Shuhei Morita, Hiroshi Iwakura, Masahiro Nishi, Hiroto Furuta, Takashi Akamizuhttp://academic.oup.com/jes/advance-article-pdf/doi/10.1210/jendso/bvaa190/34694360/bvaa190.pdf, https://academic.oup.com/jes/article-pdf/5/3/bvaa190/41725205/bvaa190.pdf, https://academic.oup.com/jes/article-pdf/5/3/bvaa190/41725205/bvaa190.pdf
Seizure10.1016/j.seizure.2017.08.012201751200-203Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani familyZain Aslam, Eungi Lee, Mazhar Badshah, Muhammad Naeem, Changsoo Kanghttps://api.elsevier.com/content/article/PII:S1059131117303217?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1059131117303217?httpAccept=text/plain
Molecular Syndromology10.1159/00044566920167287-92Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent CataractOlga Messina-Baas, Manuel L. Gonzalez-Garay, Luz M. González-Huerta, Jaime Toral-López, Sergio A. Cuevas-Covarrubiashttps://www.karger.com/Article/Pdf/445669, https://www.karger.com/Article/Pdf/445669, https://www.karger.com/Article/Pdf/445669