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Items: 1 to 50 of 481

1.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

Tessarech M, Gorce M, Boussion F, Bault JP, Triau S, Charif M, Khiaty S, Delorme B, Guichet A, Ziegler A, Bris C, Laquerrière A, Fallet-Bianco C, Jacquette A, Salhi H, Héron D, Reynier P, Procaccio V, Bonneau D, Colin E.

Am J Med Genet A. 2019 Dec 3. doi: 10.1002/ajmg.a.61384. [Epub ahead of print]

PMID:
31793730
2.

Patterns of stereotactic body radiation therapy: The influence of lung cancer treatment on prostate cancer treatment.

Jacobs BL, Yabes JG, Lopa SH, Heron DE, Chang CH, Bekelman JE, Nelson JB, Bynum JPW, Barnato AE, Kahn JM.

Urol Oncol. 2019 Nov 4. pii: S1078-1439(19)30382-5. doi: 10.1016/j.urolonc.2019.09.031. [Epub ahead of print]

PMID:
31699490
3.

Early clinical experience with varian halcyon V2 linear accelerator: Dual-isocenter IMRT planning and delivery with portal dosimetry for gynecological cancer treatments.

Kim H, Huq MS, Lalonde R, Houser CJ, Beriwal S, Heron DE.

J Appl Clin Med Phys. 2019 Nov;20(11):111-120. doi: 10.1002/acm2.12747. Epub 2019 Oct 29.

4.

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2019 Oct 23. doi: 10.1002/ajmg.c.31746. [Epub ahead of print]

PMID:
31643139
5.

Dose-response modeling the risk of carotid bleeding events after stereotactic body radiation therapy for previously irradiated head and neck cancer.

Ling DC, Vargo JA, Gebhardt BJ, Grimm RJ, Clump DA, Ferris RL, Ohr JP, Heron DE.

J Radiosurg SBRT. 2019;6(2):83-89.

7.

Which Dose Specification Should Be Used for NRG Radiation Therapy Trials: Dose-to-Medium or Dose-to-Water?

Cabanas ML, Yan C, Lalonde RJ, Heron DE, Huq MS.

Pract Radiat Oncol. 2019 Aug 31. pii: S1879-8500(19)30254-1. doi: 10.1016/j.prro.2019.08.008. [Epub ahead of print]

PMID:
31479770
8.

The Influence of Stereotactic Body Radiation Therapy Adoption on Prostate Cancer Treatment Patterns.

Jacobs BL, Yabes JG, Lopa SH, Heron DE, Chang CH, Bekelman JE, Nelson JB, Bynum JPW, Barnato AE, Kahn JM.

J Urol. 2019 Jul 30:101097JU0000000000000471. doi: 10.1097/JU.0000000000000471. [Epub ahead of print]

PMID:
31361571
9.

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives.

Geerts-Crabbé L, Antoine P, Brugallé E, Ghoumid J, Bellengier L, Edery P, Heron D, Manouvrier-Hanu S, Fantini-Hauwel C.

J Genet Couns. 2019 Oct;28(5):1011-1020. doi: 10.1002/jgc4.1153. Epub 2019 Jul 16.

PMID:
31313463
10.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

11.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

12.

Searching for secondary findings: considering actionability and preserving the right not to know.

Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M.

Eur J Hum Genet. 2019 Oct;27(10):1481-1484. doi: 10.1038/s41431-019-0438-x. Epub 2019 Jun 11. Review. No abstract available.

PMID:
31186543
13.

Assessment of deep inspiration breath hold technique setup reproducibility using mega voltage imaging for left breast cancer radiation therapy-integrated network study.

Kim H, Huq MS, Heron DE, Lalonde R, Houser CJ, Champ CE, Beriwal S.

Med Dosim. 2019 May 29. pii: S0958-3947(19)30059-7. doi: 10.1016/j.meddos.2019.04.006. [Epub ahead of print]

PMID:
31153678
14.

Salvage Curative-Intent Reirradiation Stereotactic Body Radiation Therapy for Isolated Pelvic and/or Paraortic Recurrences of Gynecologic Malignancies.

Ling DC, Vargo JA, Burton SA, Heron DE, Beriwal S.

Pract Radiat Oncol. 2019 Nov;9(6):418-425. doi: 10.1016/j.prro.2019.05.012. Epub 2019 May 28.

PMID:
31150869
15.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Stolerman ES, Francisco E, Stallworth JL, Jones JR, Monaghan KG, Keller-Ramey J, Person R, Wentzensen IM, McWalter K, Keren B, Heron B, Nava C, Heron D, Kim K, Burton B, Al-Musafri F, O'Grady L, Sahai I, Escobar LF, Meuwissen M, Reyniers E, Kooy F, Lacassie Y, Gunay-Aygun M, Schatz KS, Hochstenbach R, Zwijnenburg PJG, Waisfisz Q, van Slegtenhorst M, Mancini GMS, Louie RJ.

Am J Med Genet A. 2019 Jul;179(7):1276-1286. doi: 10.1002/ajmg.a.61173. Epub 2019 May 23.

PMID:
31124279
16.

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.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

17.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079. No abstract available.

PMID:
31032849
18.

Reddit and Radiation Therapy: A Descriptive Analysis of Posts and Comments Over 7 Years by Patients and Health Care Professionals.

Thomas J, Prabhu AV, Heron DE, Beriwal S.

Adv Radiat Oncol. 2019 Feb 13;4(2):345-353. doi: 10.1016/j.adro.2019.01.007. eCollection 2019 Apr-Jun.

19.

Initial Results of a Prospective Study of Adjuvant Pancreatic Stereotactic Body Radiation Therapy for Close or Positive Margins.

Bernard ME, Sutera PA, Iarrobino NA, Quan K, Burton SA, Bahary N, Hogg M, Zureikat A, Heron DE.

Adv Radiat Oncol. 2018 Nov 29;4(2):294-301. doi: 10.1016/j.adro.2018.11.007. eCollection 2019 Apr-Jun.

20.

Downstream Studies Following the Use of Bone Scan in the Staging of Muscle-invasive Bladder Cancer.

Maganty A, Turner RM 2nd, Yabes JG, Davies BJ, Heron DE, Jacobs BL.

Urology. 2019 Jul;129:74-78. doi: 10.1016/j.urology.2019.04.009. Epub 2019 Apr 18.

PMID:
31005656
21.

A Multi-faceted Intervention Aimed at Black-White Disparities in the Treatment of Early Stage Cancers: The ACCURE Pragmatic Quality Improvement trial.

Cykert S, Eng E, Manning MA, Robertson LB, Heron DE, Jones NS, Schaal JC, Lightfoot A, Zhou H, Yongue C, Gizlice Z.

J Natl Med Assoc. 2019 Mar 27. pii: S0027-9684(18)30191-3. doi: 10.1016/j.jnma.2019.03.001. [Epub ahead of print]

PMID:
30928088
22.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PMID:
30923367
23.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM.

Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.

24.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. No abstract available.

25.

A competing risk nomogram to predict severe late toxicity after modern re-irradiation for squamous carcinoma of the head and neck.

Ward MC, Lee NY, Caudell JJ, Zajichek A, Awan MJ, Koyfman SA, Dunlap NE, Zakem SJ, Hassanzadeh C, Marcrom S, Boggs DH, Isrow D, Vargo JA, Heron DE, Siddiqui F, Bonner JA, Beitler JJ, Yao M, Trotti AM, Riaz N; Multi-Institution Re-Irradiation (MIRI) Collaborative.

Oral Oncol. 2019 Mar;90:80-86. doi: 10.1016/j.oraloncology.2019.01.022. Epub 2019 Feb 8.

PMID:
30846182
26.

Digital Era of Mobile Communications and Smartphones: A Novel Analysis of Patient Comprehension of Cancer-Related Information Available Through Mobile Applications.

Kim C, Prabhu AV, Hansberry DR, Agarwal N, Heron DE, Beriwal S.

Cancer Invest. 2019;37(3):127-133. doi: 10.1080/07357907.2019.1572760. Epub 2019 Mar 1.

PMID:
30821518
27.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
28.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PMID:
30783266
29.

Impact of postoperative radiation therapy for deeply invasive oral cavity cancer upstaged to stage III.

Cramer JD, Samant S, Heron DE, Ferris RL, Kim S.

Head Neck. 2019 May;41(5):1178-1183. doi: 10.1002/hed.25498. Epub 2019 Feb 18.

PMID:
30773733
30.

A National WestlawNext Database Analysis of Malpractice Litigation in Radiation Oncology.

Prabhu AV, Quang TS, Funahashi R, Gupta R, Badeti S, Adeeb N, Moore JM, Agarwal N, Heron DE, Beriwal S.

Fed Pract. 2018 Feb;35(Suppl 1):S44-S52.

31.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
32.

A system-based intervention to reduce Black-White disparities in the treatment of early stage lung cancer: A pragmatic trial at five cancer centers.

Cykert S, Eng E, Walker P, Manning MA, Robertson LB, Arya R, Jones NS, Heron DE.

Cancer Med. 2019 Mar;8(3):1095-1102. doi: 10.1002/cam4.2005. Epub 2019 Feb 4.

33.

Stereotactic Ablative Radiation Therapy for Unresectable Colorectal Oligometastases.

Sutera P, Kalash R, Clump DA, D'Ambrosio D, Mihai A, Burton SA, Heron DE.

Adv Radiat Oncol. 2018 Sep 14;4(1):57-62. doi: 10.1016/j.adro.2018.09.001. eCollection 2019 Jan-Mar.

34.

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G.

Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18.

PMID:
30659139
35.

Correlation between real-time intraoperative and postoperative dosimetry and its implications on intraoperative planning.

Yan C, Huq MS, Heron DE, Beriwal S, Wynn RB.

Brachytherapy. 2019 May - Jun;18(3):338-347. doi: 10.1016/j.brachy.2018.12.004. Epub 2019 Jan 14.

PMID:
30655047
36.

Application of TG-100 risk analysis methods to the acceptance testing and commissioning process of a Halcyon linear accelerator.

Teo PT, Hwang MS, Shields WG, Kosterin P, Jang SY, Heron DE, Lalonde RJ, Huq MS.

Med Phys. 2019 Mar;46(3):1341-1354. doi: 10.1002/mp.13378. Epub 2019 Feb 4.

PMID:
30620406
37.

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.

Beaufrère A, Bonnière M, Tantau J, Roth P, Schaerer E, Brioude F, Netchine I, Bessières B, Gelot A, Vekemans M, Razavi F, Heron D, Attié-Bitach T.

Fetal Pediatr Pathol. 2018 Dec;37(6):411-417. doi: 10.1080/15513815.2018.1520942. Epub 2018 Dec 31.

PMID:
30595068
38.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L.

Am J Med Genet A. 2018 Dec;176(12):2740-2750. doi: 10.1002/ajmg.a.40662. Epub 2018 Dec 10.

PMID:
30548201
39.

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N.

Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec.

40.

Lag Time Between Evidence and Guidelines: Can Clinical Pathways Bridge the Gap?

Rodríguez-Lopéz JL, Ling DC, Heron DE, Beriwal S.

J Oncol Pract. 2019 Mar;15(3):e195-e201. doi: 10.1200/JOP.18.00430. Epub 2018 Dec 7.

PMID:
30526227
41.

How Do Patients Rate Their Radiation Oncologists in the Modern Era: An Analysis of Vitals.com.

Randhawa S, Viqar A, Strother J, Prabhu AV, Xia F, Heron D, Beriwal S.

Cureus. 2018 Sep 17;10(9):e3312. doi: 10.7759/cureus.3312.

42.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Erratum in: Genet Med. 2019 Feb 20;:.

43.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics, Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study, Hedrich UBS, Scheffer IE, Helbig I, Zamponi GW, Lerche H, Mefford HC.

Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2019 Mar 7;104(3):562.

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Phase 1 study of EGFR-antisense DNA, cetuximab, and radiotherapy in head and neck cancer with preclinical correlatives.

Bauman JE, Duvvuri U, Thomas S, Gooding WE, Clump DA, Karlovits B, Wehbe A, Miller FR, Kim S, Sen M, Heron DE, Grandis JR, Argiris A.

Cancer. 2018 Oct 1;124(19):3881-3889. doi: 10.1002/cncr.31651. Epub 2018 Oct 6.

45.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

46.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
47.

Declining brachytherapy utilization for high-risk prostate cancer-Can clinical pathways reverse the trend?

Ling DC, Karukonda P, Smith RP, Heron DE, Beriwal S.

Brachytherapy. 2018 Nov - Dec;17(6):895-898. doi: 10.1016/j.brachy.2018.08.004. Epub 2018 Sep 11.

PMID:
30217434
48.

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Biancalana V, Romero NB, Thuestad IJ, Ignatius J, Kataja J, Gardberg M, Héron D, Malfatti E, Oldfors A, Laporte J.

Acta Neuropathol Commun. 2018 Sep 12;6(1):93. doi: 10.1186/s40478-018-0593-2. No abstract available.

49.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

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