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Page 1
MGA-related syndrome: A proposed novel disorder.
McGivern B, Morrow MM, Torti E, McWalter K, Wentzensen IM, Monaghan KG, Gerard A, Robak L, Chitayat D, Botsford C, Jurgensmeyer S, Leahy P, Kruszka P. McGivern B, et al. Among authors: wentzensen im. HGG Adv. 2024 Nov 26;6(1):100387. doi: 10.1016/j.xhgg.2024.100387. Online ahead of print. HGG Adv. 2024. PMID: 39600096 Free article.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: wentzensen im. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. Chettle J, et al. Among authors: wentzensen im. HGG Adv. 2024 Oct 10;5(4):100345. doi: 10.1016/j.xhgg.2024.100345. Epub 2024 Aug 30. HGG Adv. 2024. PMID: 39182167 Free PMC article.
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Among authors: wentzensen im. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: wentzensen im. Am J Hum Genet. 2024 Jun 6;111(6):1240. doi: 10.1016/j.ajhg.2024.05.004. Epub 2024 May 14. Am J Hum Genet. 2024. PMID: 38749428 Free PMC article. No abstract available.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: wentzensen im. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365 Free PMC article.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: wentzensen im. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
Role of CAMK2D in neurodevelopment and associated conditions.
Rigter PMF, de Konink C, Dunn MJ, Proietti Onori M, Humberson JB, Thomas M, Barnes C, Prada CE, Weaver KN, Ryan TD, Caluseriu O, Conway J, Calamaro E, Fong CT, Wuyts W, Meuwissen M, Hordijk E, Jonkers CN, Anderson L, Yuseinova B, Polonia S, Beysen D, Stark Z, Savva E, Poulton C, McKenzie F, Bhoj E, Bupp CP, Bézieau S, Mercier S, Blevins A, Wentzensen IM, Xia F, Rosenfeld JA, Hsieh TC, Krawitz PM, Elbracht M, Veenma DCM, Schulman H, Stratton MM, Küry S, van Woerden GM. Rigter PMF, et al. Among authors: wentzensen im. Am J Hum Genet. 2024 Feb 1;111(2):364-382. doi: 10.1016/j.ajhg.2023.12.016. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272033 Free PMC article.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB, Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M, Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R, Varshney GK. Lin SJ, et al. Among authors: wentzensen im. Genome Med. 2023 Nov 29;15(1):102. doi: 10.1186/s13073-023-01258-4. Genome Med. 2023. PMID: 38031187 Free PMC article.
69 results