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Page 1
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: peterlin b. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.
Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA. Rosser ZH, et al. Among authors: peterlin b. Am J Hum Genet. 2000 Dec;67(6):1526-43. doi: 10.1086/316890. Epub 2000 Nov 9. Am J Hum Genet. 2000. PMID: 11078479 Free PMC article.
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.
Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, Benussi L, Bessi V, Binetti G, Blackburn DJ, Boada M, Boeve BF, Borrego-Ecija S, Borroni B, Bråthen G, Brooks WS, Bruni AC, Caroppo P, Bandres-Ciga S, Clarimon J, Colao R, Cruchaga C, Danek A, de Boer SC, de Rojas I, di Costanzo A, Dickson DW, Diehl-Schmid J, Dobson-Stone C, Dols-Icardo O, Donizetti A, Dopper E, Durante E, Ferrari C, Forloni G, Frangipane F, Fratiglioni L, Kramberger MG, Galimberti D, Gallucci M, García-González P, Ghidoni R, Giaccone G, Graff C, Graff-Radford NR, Grafman J, Halliday GM, Hernandez DG, Hjermind LE, Hodges JR, Holloway G, Huey ED, Illán-Gala I, Josephs KA, Knopman DS, Kristiansen M, Kwok JB, Leber I, Leonard HL, Libri I, Lleo A, Mackenzie IR, Madhan GK, Maletta R, Marquié M, Maver A, Menendez-Gonzalez M, Milan G, Miller BL, Morris CM, Morris HR, Nacmias B, Newton J, Nielsen JE, Nilsson C, Novelli V, Padovani A, Pal S, Pasquier F, Pastor P, Perneczky R, Peterlin B, Petersen RC, Piguet O, Pijnenburg YA, Puca AA, Rademakers R, Rainero I, Reus LM, Richardson AM, Riemenschneider M, Rogaeva E,… See abstract for full author list ➔ Manzoni C, et al. Among authors: peterlin b. Am J Hum Genet. 2024 Jul 11;111(7):1316-1329. doi: 10.1016/j.ajhg.2024.05.017. Epub 2024 Jun 17. Am J Hum Genet. 2024. PMID: 38889728 Free PMC article.
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075210 Free PMC article.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Reply to Sajantila and Budowle.
Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ. Barton DE, et al. Among authors: peterlin b. Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. Epub 2015 Jan 14. Eur J Hum Genet. 2016. PMID: 25585701 Free PMC article. No abstract available.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Eur J Hum Genet. 2021. PMID: 34429526 Free PMC article. No abstract available.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics; American Society of Human Genetics. Dondorp W, et al. Among authors: peterlin b. Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782669 Free PMC article.
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Dondorp W, et al. Among authors: peterlin b. Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. Online ahead of print. Eur J Hum Genet. 2015. PMID: 25828867 Free article. No abstract available.
649 results