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Year | Number of Results |
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2021 | 1 |
2022 | 4 |
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2024 | 0 |
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Page 1
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906515
Free PMC article.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, Bekheirnia MR, Joosten M, Shlomovitz O, Vivante A, Banne E, Mane S, Lifton RP, Kirschner KM, Kispert A, Rosenberger G, Fischer KD, Lienkamp SS, Zegers MMP, Hildebrandt F.
Klämbt V, et al.
J Am Soc Nephrol. 2023 Feb 1;34(2):273-290. doi: 10.1681/ASN.2022010050. Epub 2023 Nov 22.
J Am Soc Nephrol. 2023.
PMID: 36414417
Free PMC article.
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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F.
Majmundar AJ, et al.
Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6.
Genet Med. 2023.
PMID: 36571463
Free PMC article.
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A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
Habiby R, Bichet DG, Arthus MF, Connaughton D, Shril S, Mane S, Majmundar AJ, Hildebrandt F, Robertson GL.
Habiby R, et al.
J Clin Endocrinol Metab. 2022 May 17;107(6):e2513-e2522. doi: 10.1210/clinem/dgac076.
J Clin Endocrinol Metab. 2022.
PMID: 35137152
Free PMC article.
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Activation of 2-oxoglutarate receptor 1 (OXGR1) by α-ketoglutarate (αKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes.
Heneghan JF, Majmundar AJ, Rivera A, Wohlgemuth JG, Dlott JS, Snyder LM, Hildebrandt F, Alper SL.
Heneghan JF, et al.
Physiol Rep. 2022 Jul;10(14):e15362. doi: 10.14814/phy2.15362.
Physiol Rep. 2022.
PMID: 35851763
Free PMC article.
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