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Friedhelm Hildebrandt, M.D.


Friedhelm Hildebrandt, M.D is currently a Professor of Pediatrics at Harvard Medical School and Chief of the Division of Nephrology of Boston Children's Hospital. Dr. Hildebrandt is also an Investigator of the Howard Hughes Medical Institute (HHMI).

Dr. Hildebrandt's research work is concerned with the identification and functional characterization of recessive single-gene causes of kidney diseases in children. His group has identified over 30 novel kidney disease genes and delineated the related pathogenesis. His lab studies the function of newly identified disease genes in disease models of mice and zebrafish as well in cell-based systems. His work was involved in the early development of efficient methods for gene identification by combining homozygosity mapping with total human exome resequencing. Recently, his lab discovered that DNA damage repair plays a role in the pathogenesis of ciliopathies (Chaki et al. Cell150:533-48, 2012; Zhou et al., Nat Genet 44:910-15; editorial p. 836-8). The research work of his lab has been supported solely by peer-reviewed research grants, mostly from the NIH, the HHMI, the Doris Duke Charitable Foundation, the March of Dimes, the Thrasher Research Foundation, and formerly the German Research Foundation. He has published over 240 original articles, many of them in high-ranking journals.

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. RC2DK122397 (POLLAK, MARTIN R.) Aug 15, 2020 - May 31, 2025
    Integrating large scale genomics and functional studies to accelerate FSGS/NS discovery
    Role: Co-Principal Investigator
  2. R01DK088767 (HILDEBRANDT, FRIEDHELM) Jul 5, 2010 - Feb 28, 2021
    New genes and pathomechanisms of congenital abnormalities of the kidney (CAKUT)
    Role: Principal Investigator
  3. RC1DK086542 (HILDEBRANDT, FRIEDHELM) Sep 30, 2009 - Jul 31, 2012
    Exon capture and large-scale sequencing for disease-cause identification, early d
    Role: Principal Investigator
  4. R01DK076683 (HILDEBRANDT, FRIEDHELM) Dec 1, 2006 - Jun 30, 2022
    Discover and functionally characterize full-penetrance causes of nephrosis / FSGS
    Role: Principal Investigator
  5. R01DK069274 (HILDEBRANDT, FRIEDHELM) Mar 1, 2005 - Dec 31, 2009
    Function of NPHP6 a novel gene for Senior-Loken syndrome
    Role: Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Elshafey SA, Thabet MAEH, Abo Elwafa RAH, Schneider R, Shril S, Buerger F, Hildebrandt F, Fathy HM. Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2?years of life. Acta Paediatr. 2023 Feb 27. PMID: 36847718.
    Citations:    Fields:    
  2. 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. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290. PMID: 36414417.
    Citations:    Fields:    Translation:HumansAnimals
  3. Kolvenbach CM, Zheng B, Merz LM, Mertens ND, Mansour B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der Ven AT, Bello JO, Shril S, Hildebrandt F. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. Am J Med Genet A. 2023 Jan 24. PMID: 36694287.
    Citations:    Fields:    
  4. 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. OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genet Med. 2023 03; 25(3):100351. PMID: 36571463; PMCID: PMC9992313.
    Citations:    Fields:    Translation:Humans
  5. Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepanska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnys P, Grote P, Odermatt B, Reutter HM, Dworschak GC. X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. J Med Genet. 2022 Nov 15. PMID: 36379543.
    Citations:    Fields:    
  6. Connaughton DM, Hildebrandt F. Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. Am J Med Genet C Semin Med Genet. 2022 09; 190(3):325-343. PMID: 36208064; PMCID: PMC9618346.
    Citations:    Fields:    Translation:Humans
  7. Zheng B, Seltzsam S, Wang C, Schierbaum L, Schneider S, Wu CW, Dai R, Connaughton DM, Nakayama M, Mann N, Stajic N, Mane S, Bauer SB, Tasic V, Nam HJ, Shril S, Hildebrandt F. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Nephrol Dial Transplant. 2022 09 22; 37(10):1833-1843. PMID: 34473308; PMCID: PMC9755999.
    Citations: 2     Fields:    Translation:Humans
  8. Liu PJ, Gunther LK, Garone ME, Zhang C, Perez D, Bi-Karchin J, Pellenz CD, Chase SE, Presti MF, Plante EL, Martin CE, Lovric S, Yengo CM, Hildebrandt F, Krendel M. Steroid-Resistant Nephrotic Syndrome-Associated <i>MYO1E</i> Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity. J Am Soc Nephrol. 2022 11; 33(11):1989-2007. PMID: 36316095; PMCID: PMC9678034.
    Citations:    Fields:    Translation:HumansAnimals
  9. Wu CW, Lim TY, Wang C, Seltzsam S, Zheng B, Schierbaum L, Schneider S, Mann N, Connaughton DM, Nakayama M, van der Ven AT, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Stajic N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Turudic D, Al Saffar M, Awad HS, Eid LA, Ramanathan A, Senguttuvan P, Mane SM, Lee RS, Bauer SB, Lu W, Hilger AC, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Oct; 44:106-112. PMID: 36185583; PMCID: PMC9520493.
  10. Sasamoto Y, Lee CAA, Wilson BJ, Buerger F, Martin G, Mishra A, Kiritoshi S, Tran J, Gonzalez G, Hildebrandt F, Jo VY, Lian CG, Murphy GF, Ksander BR, Frank MH, Frank NY. Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation. Cell Rep. 2022 08 09; 40(6):111166. PMID: 35947947; PMCID: PMC9480518.
    Citations: 1     Fields:    Translation:Cells
  11. Heneghan JF, Majmundar AJ, Rivera A, Wohlgemuth JG, Dlott JS, Snyder LM, Hildebrandt F, Alper SL. Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. Physiol Rep. 2022 07; 10(14):e15362. PMID: 35851763; PMCID: PMC9294391.
    Citations:    Fields:    Translation:AnimalsCells
  12. Yu CC, Lee AF, Kohl S, Lin MY, Cheng SM, Hung CC, Chang JM, Chiu YW, Hwang SJ, Otto EA, Hildebrandt F, Hwang DY. PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. NPJ Genom Med. 2022 Jul 01; 7(1):40. PMID: 35778421; PMCID: PMC9249874.
  13. Habiby R, Bichet DG, Arthus MF, Connaughton D, Shril S, Mane S, Majmundar AJ, Hildebrandt F, Robertson GL. A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. J Clin Endocrinol Metab. 2022 05 17; 107(6):e2513-e2522. PMID: 35137152; PMCID: PMC9113824.
    Citations:    Fields:    Translation:Humans
  14. Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Int J Mol Sci. 2022 Feb 03; 23(3). PMID: 35163670; PMCID: PMC8835943.
    Citations: 3     Fields:    Translation:HumansCells
  15. Gerstner L, Chen M, Kampf LL, Milosavljevic J, Lang K, Schneider R, Hildebrandt F, Helmstädter M, Walz G, Hermle T. Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila. Kidney Int. 2022 06; 101(6):1216-1231. PMID: 35120995.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  16. Elhassan EAE, Murray SL, Connaughton DM, Kennedy C, Cormican S, Cowhig C, Stapleton C, Little MA, Kidd K, Bleyer AJ, Živná M, Kmoch S, Fennelly NK, Doyle B, Dorman A, Griffin MD, Casserly L, Harris PC, Hildebrandt F, Cavalleri GL, Benson KA, Conlon PJ. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project. J Nephrol. 2022 07; 35(6):1655-1665. PMID: 35099770; PMCID: PMC9300532.
    Citations: 2     Fields:    Translation:Humans
  17. Wang C, Seltzsam S, Zheng B, Wu CW, Nicolas-Frank C, Yousef K, Au KS, Mann N, Pantel D, Schneider S, Schierbaum L, Kitzler TM, Connaughton DM, Mao Y, Dai R, Nakayama M, Kari JA, El Desoky S, Shalaby M, Eid LA, Awad HS, Tasic V, Mane SM, Lifton RP, Baum MA, Shril S, Estrada CR, Hildebrandt F. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Am J Med Genet A. 2022 05; 188(5):1355-1367. PMID: 35040250; PMCID: PMC8995376.
    Citations: 1     Fields:    Translation:HumansAnimals
  18. Lüdtke TH, Kleppa MJ, Rivera-Reyes R, Qasrawi F, Connaughton DM, Shril S, Hildebrandt F, Kispert A. Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. Biochem J. 2022 01 14; 479(1):91-109. PMID: 34935912.
    Citations:    Fields:    Translation:HumansAnimalsCells
  19. Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. PMID: 34906515; PMCID: PMC8876311.
    Citations: 3     Fields:    Translation:Humans
  20. Ullah I, Ottlewski I, Shehzad W, Riaz A, Ijaz S, Tufail A, Ammara H, Mane S, Shril S, Hildebrandt F, Zahoor MY, Majmundar AJ. Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC Med Genomics. 2021 11 12; 14(1):266. PMID: 34772415; PMCID: PMC8588693.
    Citations: 1     Fields:    Translation:Humans
  21. Xiao H, Hildebrandt F. Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria. Pediatr Nephrol. 2022 07; 37(7):1567-1574. PMID: 34762194.
    Citations:    Fields:    Translation:Humans
  22. Pérez-Sáez MJ, Uffing A, Leon J, Murakami N, Watanabe A, Borges TJ, Sabbisetti VS, Cureton P, Kenyon V, Keating L, Yee K, Fernandes Satiro CA, Serena G, Hildebrandt F, Riella CV, Libermann TA, Wang M, Pascual J, Bonventre JV, Cravedi P, Fasano A, Riella LV. Corrigendum: Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:798560. PMID: 34795679; PMCID: PMC8594461.
    Citations:    Fields:    
  23. Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS. Deep learning is widely applicable to phenotyping embryonic development and disease. Development. 2021 11 01; 148(21). PMID: 34739029.
    Citations:    Fields:    Translation:Animals
  24. Getwan M, Hoppmann A, Schlosser P, Grand K, Song W, Diehl R, Schroda S, Heeg F, Deutsch K, Hildebrandt F, Lausch E, Köttgen A, Lienkamp SS. Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease. Proc Natl Acad Sci U S A. 2021 09 28; 118(39). PMID: 34548398.
    Citations: 2     Fields:    Translation:Animals
  25. Zheng B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Wu W, Dai R, Connaughton DM, Nakayama M, Mann N, Bauer SB, Awad HS, Eid LA, Tasic V, Shril S, Hildebrandt F. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. Am J Med Genet A. 2022 01; 188(1):310-313. PMID: 34525250.
    Citations: 1     Fields:    Translation:Humans
  26. Yang C, Harafuji N, O'Connor AK, Kesterson RA, Watts JA, Majmundar AJ, Braun DA, Lek M, Laricchia KM, Fathy HM, Mane S, Shril S, Hildebrandt F, Guay-Woodford LM. Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 09 14; 11(1):18274. PMID: 34521872; PMCID: PMC8440558.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  27. Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai R, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC, Hilger AC, Reutter H, Hildebrandt F. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021 12; 185(12):3784-3792. PMID: 34338422; PMCID: PMC8595524.
    Citations: 2     Fields:    Translation:Humans
  28. Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Hum Mutat. 2021 10; 42(10):1221-1228. PMID: 34212438; PMCID: PMC8434971.
    Citations: 4     Fields:    Translation:Humans
  29. Lemire G, Zheng B, Ediae GU, Zou R, Bhola PT, Chisholm C, de Nanassy J, Lo B, Wang C, Shril S, El Desoky S, Shalaby M, Kari JA, Wang X, Kernohan KD, Boycott KM, Hildebrandt F, Sawyer SL. Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. Am J Med Genet A. 2021 10; 185(10):3005-3011. PMID: 34145744; PMCID: PMC8446303.
    Citations: 1     Fields:    Translation:HumansAnimals
  30. Pérez-Sáez MJ, Uffing A, Leon J, Murakami N, Watanabe A, Borges TJ, Sabbisetti VS, Cureton P, Kenyon V, Keating L, Yee K, Fernandes Satiro CA, Serena G, Hildebrandt F, Riella CV, Libermann TA, Wang M, Pascual J, Bonventre JV, Cravedil P, Fasano A, Riella LV. Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study. Front Immunol. 2021; 12:624821. PMID: 34149688.
    Citations: 5     Fields:    Translation:HumansCellsCTClinical Trials
  31. Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. J Allergy Clin Immunol. 2021 08; 148(2):381-393. PMID: 33872655; PMCID: PMC8569286.
    Citations: 12     Fields:    Translation:HumansCTClinical Trials
  32. Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. J Am Soc Nephrol. 2021 Jul; 32(7):1682-1695. PMID: 33863784; PMCID: PMC8425665.
    Citations: 1     Fields:    
  33. Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bielenska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Apr; 32(4):805-820. PMID: 33597122; PMCID: PMC8017540.
    Citations: 8     Fields:    
  34. Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. PMID: 33593823; PMCID: PMC7920168.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  35. Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. PMID: 33531666; PMCID: PMC8187145.
    Citations: 7     Fields:    Translation:Humans
  36. Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A, John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. PMID: 33508234.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  37. Klämbt V, Werth M, Onuchic-Whitford AC, Getwan M, Kitzler TM, Buerger F, Mao Y, Deutsch K, Mann N, Majmundar AJ, Kaminski MM, Shen T, Schmidt-Ott KM, Shalaby M, El Desoky S, Kari JA, Shril S, Lienkamp SS, Barasch J, Hildebrandt F. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant. 2021 01 25; 36(2):237-246. PMID: 33097957; PMCID: PMC7834595.
    Citations:    Fields:    Translation:HumansAnimalsCells
  38. Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). PMID: 33523862. </