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Page 1
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. Banka S, et al. Among authors: fitzpatrick d. Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. Brain. 2022. PMID: 35139179 Free PMC article.
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. Zaman T, et al. Among authors: fitzpatrick d. Ann Neurol. 2020 Aug;88(2):348-362. doi: 10.1002/ana.25809. Epub 2020 Jul 9. Ann Neurol. 2020. PMID: 32515017 Free PMC article.
Clinical utility gene card for: Cornelia de Lange syndrome.
Ramos FJ, Puisac B, Baquero-Montoya C, Gil-Rodríguez MC, Bueno I, Deardorff MA, Hennekam RC, Kaiser FJ, Krantz ID, Musio A, Selicorni A, FitzPatrick DR, Pié J. Ramos FJ, et al. Among authors: fitzpatrick dr. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537356 Free PMC article. No abstract available.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: fitzpatrick dr. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R,… See abstract for full author list ➔ Cif L, et al. Among authors: fitzpatrick dr, d hardemare v. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T; INTERVAL Study; Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J; UK10K Consortium; Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD; Deciphering Developmental Disorders Study; Hurles ME. Sifrim A, et al. Among authors: fitzpatrick dr. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. Nat Genet. 2016. PMID: 27479907 Free PMC article.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC. Krab LC, et al. Among authors: fitzpatrick dr. Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19. Hum Genet. 2020. PMID: 32193685 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Among authors: fitzpatrick dr. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
1,219 results