Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 117

1.

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S.

Eur J Med Genet. 2019 Sep 30:103777. doi: 10.1016/j.ejmg.2019.103777. [Epub ahead of print]

PMID:
31580924
2.

AlleleAnalyzer: a tool for personalized and allele-specific sgRNA design.

Keough KC, Lyalina S, Olvera MP, Whalen S, Conklin BR, Pollard KS.

Genome Biol. 2019 Aug 15;20(1):167. doi: 10.1186/s13059-019-1783-3.

3.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0623-x. [Epub ahead of print]

PMID:
31363182
4.

Using Big Data to Uncover Patient Determinants of Care Utilization Compliance in a Student Dental Clinic.

Boehm A, Jeong IC, Finkelstein J, Whalen S, Graham R.

Stud Health Technol Inform. 2019 Jul 4;262:324-327. doi: 10.3233/SHTI190084.

PMID:
31349333
5.

Reply to 'Inflated performance measures in enhancer-promoter interaction-prediction methods'.

Whalen S, Pollard KS.

Nat Genet. 2019 Aug;51(8):1198-1200. doi: 10.1038/s41588-019-0473-0. No abstract available.

PMID:
31332377
6.

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.

7.

The glycan CA19-9 promotes pancreatitis and pancreatic cancer in mice.

Engle DD, Tiriac H, Rivera KD, Pommier A, Whalen S, Oni TE, Alagesan B, Lee EJ, Yao MA, Lucito MS, Spielman B, Da Silva B, Schoepfer C, Wright K, Creighton B, Afinowicz L, Yu KH, Grützmann R, Aust D, Gimotty PA, Pollard KS, Hruban RH, Goggins MG, Pilarsky C, Park Y, Pappin DJ, Hollingsworth MA, Tuveson DA.

Science. 2019 Jun 21;364(6446):1156-1162. doi: 10.1126/science.aaw3145.

PMID:
31221853
8.

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.

Giabicani E, Chantot-Bastaraud S, Bonnard A, Rachid M, Whalen S, Netchine I, Brioude F.

Front Endocrinol (Lausanne). 2019 Apr 30;10:263. doi: 10.3389/fendo.2019.00263. eCollection 2019.

9.

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Popov IK, Hiatt SM, Whalen S, Keren B, Ruivenkamp C, van Haeringen A, Chen MJ, Cooper GM, Korf BR, Chang C.

Front Physiol. 2019 Apr 8;10:388. doi: 10.3389/fphys.2019.00388. eCollection 2019.

10.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

J Med Genet. 2019 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.

PMID:
30923172
11.

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
12.

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC.

Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Review.

PMID:
30677142
13.

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P.

Clin Genet. 2019 Mar;95(3):420-426. doi: 10.1111/cge.13493. Epub 2019 Jan 11.

PMID:
30633342
14.

Most chromatin interactions are not in linkage disequilibrium.

Whalen S, Pollard KS.

Genome Res. 2019 Mar;29(3):334-343. doi: 10.1101/gr.238022.118. Epub 2019 Jan 7.

15.

Monoamine neurotransmitters and movement disorders in children and adults.

Doummar D, Moussa F, Nougues MC, Ravelli C, Louha M, Whalen S, Burglen L, Rodriguez D, Billette de Villemeur T.

Rev Neurol (Paris). 2018 Nov;174(9):581-588. doi: 10.1016/j.neurol.2018.07.002. Epub 2018 Aug 27. Review.

PMID:
30166070
16.

The novel role of paramedics in collaborative emergency centres aligns with their professional identity: A qualitative analysis.

Whalen S, Goldstein J, Urquhart R, Carter AJE.

CJEM. 2018 Jul;20(4):518-522. doi: 10.1017/cem.2018.401.

PMID:
30033895
17.

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D.

Brain Dev. 2018 Oct;40(9):768-774. doi: 10.1016/j.braindev.2018.05.008. Epub 2018 May 31.

PMID:
29861155
18.

Angiographic Efficacy of the Atriclip Left Atrial Appendage Exclusion Device Placed by Minimally Invasive Thoracoscopic Approach.

Ellis CR, Aznaurov SG, Patel NJ, Williams JR, Sandler KL, Hoff SJ, Ball SK, Whalen SP, Carr JJ.

JACC Clin Electrophysiol. 2017 Dec 11;3(12):1356-1365. doi: 10.1016/j.jacep.2017.03.008. Epub 2017 May 9.

19.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA.

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

PMID:
29661537
20.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
21.

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. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

22.

The Epstein-Barr Virus Episome Maneuvers between Nuclear Chromatin Compartments during Reactivation.

Moquin SA, Thomas S, Whalen S, Warburton A, Fernandez SG, McBride AA, Pollard KS, Miranda JL.

J Virol. 2018 Jan 17;92(3). pii: e01413-17. doi: 10.1128/JVI.01413-17. Print 2018 Feb 1.

23.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
24.

Short-term safety and efficacy of left atrial appendage closure with the WATCHMAN device in patients with small left atrial appendage ostia.

Venkataraman G, Strickberger SA, Doshi S, Ellis CR, Lakkireddy D, Whalen SP, Cuoco F.

J Cardiovasc Electrophysiol. 2018 Jan;29(1):17-21. doi: 10.1111/jce.13333. Epub 2017 Sep 26.

PMID:
28877379
25.

Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.

Lavillaureix A, Heide S, Chantot-Bastaraud S, Marey I, Keren B, Grigorescu R, Jouannic JM, Gelot A, Whalen S, Héron D, Siffroi JP.

Clin Genet. 2017 Nov;92(5):556-558. doi: 10.1111/cge.13062. Epub 2017 Aug 1. No abstract available.

PMID:
28762477
26.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

27.

The association of QT interval components with atrial fibrillation.

Patel N, O'Neal WT, Whalen SP, Soliman EZ.

Ann Noninvasive Electrocardiol. 2018 Mar;23(2):e12467. doi: 10.1111/anec.12467. Epub 2017 Jun 29.

28.

Supporting occupational therapists implementing a capacity-building model in schools: Appuyer les ergothérapeutes mettant en œuvre un modèle de renforcement des capacités dans les écoles.

Pollock NA, Dix L, Whalen SS, Campbell WN, Missiuna CA.

Can J Occup Ther. 2017 Oct/Dec;84(4-5):242-252. doi: 10.1177/0008417417709483. Epub 2017 Jun 23.

PMID:
28643527
29.

Postoperative Atrial Fibrillation.

Royster RL, Deng H, Whalen SP.

Anesth Analg. 2017 Jul;125(1):10-12. doi: 10.1213/ANE.0000000000002070. No abstract available.

PMID:
28628573
30.

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Day FR, Thompson DJ, Helgason H, Chasman DI, Finucane H, Sulem P, Ruth KS, Whalen S, Sarkar AK, Albrecht E, Altmaier E, Amini M, Barbieri CM, Boutin T, Campbell A, Demerath E, Giri A, He C, Hottenga JJ, Karlsson R, Kolcic I, Loh PR, Lunetta KL, Mangino M, Marco B, McMahon G, Medland SE, Nolte IM, Noordam R, Nutile T, Paternoster L, Perjakova N, Porcu E, Rose LM, Schraut KE, Segrè AV, Smith AV, Stolk L, Teumer A, Andrulis IL, Bandinelli S, Beckmann MW, Benitez J, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Brand JS, Brauch H, Brenner H, Broer L, Brüning T, Buring JE, Campbell H, Catamo E, Chanock S, Chenevix-Trench G, Corre T, Couch FJ, Cousminer DL, Cox A, Crisponi L, Czene K, Davey Smith G, de Geus EJCN, de Mutsert R, De Vivo I, Dennis J, Devilee P, Dos-Santos-Silva I, Dunning AM, Eriksson JG, Fasching PA, Fernández-Rhodes L, Ferrucci L, Flesch-Janys D, Franke L, Gabrielson M, Gandin I, Giles GG, Grallert H, Gudbjartsson DF, Guénel P, Hall P, Hallberg E, Hamann U, Harris TB, Hartman CA, Heiss G, Hooning MJ, Hopper JL, Hu F, Hunter DJ, Ikram MA, Im HK, Järvelin MR, Joshi PK, Karasik D, Kellis M, Kutalik Z, LaChance G, Lambrechts D, Langenberg C, Launer LJ, Laven JSE, Lenarduzzi S, Li J, Lind PA, Lindstrom S, Liu Y, Luan J, Mägi R, Mannermaa A, Mbarek H, McCarthy MI, Meisinger C, Meitinger T, Menni C, Metspalu A, Michailidou K, Milani L, Milne RL, Montgomery GW, Mulligan AM, Nalls MA, Navarro P, Nevanlinna H, Nyholt DR, Oldehinkel AJ, O'Mara TA, Padmanabhan S, Palotie A, Pedersen N, Peters A, Peto J, Pharoah PDP, Pouta A, Radice P, Rahman I, Ring SM, Robino A, Rosendaal FR, Rudan I, Rueedi R, Ruggiero D, Sala CF, Schmidt MK, Scott RA, Shah M, Sorice R, Southey MC, Sovio U, Stampfer M, Steri M, Strauch K, Tanaka T, Tikkanen E, Timpson NJ, Traglia M, Truong T, Tyrer JP, Uitterlinden AG, Edwards DRV, Vitart V, Völker U, Vollenweider P, Wang Q, Widen E, van Dijk KW, Willemsen G, Winqvist R, Wolffenbuttel BHR, Zhao JH, Zoledziewska M, Zygmunt M, Alizadeh BZ, Boomsma DI, Ciullo M, Cucca F, Esko T, Franceschini N, Gieger C, Gudnason V, Hayward C, Kraft P, Lawlor DA, Magnusson PKE, Martin NG, Mook-Kanamori DO, Nohr EA, Polasek O, Porteous D, Price AL, Ridker PM, Snieder H, Spector TD, Stöckl D, Toniolo D, Ulivi S, Visser JA, Völzke H, Wareham NJ, Wilson JF; LifeLines Cohort Study; InterAct Consortium; kConFab/AOCS Investigators; Endometrial Cancer Association Consortium; Ovarian Cancer Association Consortium; PRACTICAL consortium, Spurdle AB, Thorsteindottir U, Pollard KS, Easton DF, Tung JY, Chang-Claude J, Hinds D, Murray A, Murabito JM, Stefansson K, Ong KK, Perry JRB.

Nat Genet. 2017 Jun;49(6):834-841. doi: 10.1038/ng.3841. Epub 2017 Apr 24.

31.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.

Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.

32.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D.

J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8.

PMID:
28284480
33.

Unboxing cluster heatmaps.

Engle S, Whalen S, Joshi A, Pollard KS.

BMC Bioinformatics. 2017 Feb 15;18(Suppl 2):63. doi: 10.1186/s12859-016-1442-6.

34.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB.

Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2.

PMID:
28151489
35.

Electrocardiographic left ventricular hypertrophy predicts atrial fibrillation independent of left ventricular mass.

Patel N, O'Neal WT, Whalen SP, Soliman EZ.

Ann Noninvasive Electrocardiol. 2017 May;22(3):1-5. doi: 10.1111/anec.12419. Epub 2016 Dec 25.

PMID:
28019050
36.

Analysis of Transcriptional Variability in a Large Human iPSC Library Reveals Genetic and Non-genetic Determinants of Heterogeneity.

Carcamo-Orive I, Hoffman GE, Cundiff P, Beckmann ND, D'Souza SL, Knowles JW, Patel A, Papatsenko D, Abbasi F, Reaven GM, Whalen S, Lee P, Shahbazi M, Henrion MYR, Zhu K, Wang S, Roussos P, Schadt EE, Pandey G, Chang R, Quertermous T, Lemischka I.

Cell Stem Cell. 2017 Apr 6;20(4):518-532.e9. doi: 10.1016/j.stem.2016.11.005. Epub 2016 Dec 22.

37.

PR-Interval Components and Atrial Fibrillation Risk (from the Atherosclerosis Risk in Communities Study).

Smith JW, O'Neal WT, Shoemaker MB, Chen LY, Alonso A, Whalen SP, Soliman EZ.

Am J Cardiol. 2017 Feb 1;119(3):466-472. doi: 10.1016/j.amjcard.2016.10.016. Epub 2016 Nov 1.

38.

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.

Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.

39.

Self-Reported Responses to Player Profile Questions Show Consistency with the Use of Complex Attentional Strategies by Expert Horseshoe Pitchers.

Fairbrother JT, Post PG, Whalen SJ.

Front Psychol. 2016 Jul 5;7:1028. doi: 10.3389/fpsyg.2016.01028. eCollection 2016.

40.

A Roundtable Discussion: The Qualities of Great Managers.

Loughlin S, Dysko J, Mickletz JF, Whalen S.

Biomed Instrum Technol. 2016 May-Jun;50(3):197-200. doi: 10.2345/0899-8205-50.3.197. No abstract available.

PMID:
27164206
41.

Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin.

Whalen S, Truty RM, Pollard KS.

Nat Genet. 2016 May;48(5):488-96. doi: 10.1038/ng.3539. Epub 2016 Apr 4.

42.

Measurement of diffuse ventricular fibrosis with myocardial T1 in patients with atrial fibrillation.

Montgomery JA, Abdallah W, Yoneda ZT, Brittain E, Aznaurov SG, Parvez B, Adkins K, Whalen SP, Estrada JC, Shen S, Crossley GH, Kanagasundram A, Saavedra P, Ellis CR, Lawson M, Darbar D, Shoemaker MB.

J Arrhythm. 2016 Feb;32(1):51-6. doi: 10.1016/j.joa.2015.08.005. Epub 2015 Oct 29.

43.

Staged versus Simultaneous Thoracoscopic Hybrid Ablation for Persistent Atrial Fibrillation Does Not Affect Time to Recurrence of Atrial Arrhythmia.

Richardson TD, Shoemaker MB, Whalen SP, Hoff SJ, Ellis CR.

J Cardiovasc Electrophysiol. 2016 Apr;27(4):428-34. doi: 10.1111/jce.12906. Epub 2016 Jan 29.

PMID:
26725742
44.

Predicting protein function and other biomedical characteristics with heterogeneous ensembles.

Whalen S, Pandey OP, Pandey G.

Methods. 2016 Jan 15;93:92-102. doi: 10.1016/j.ymeth.2015.08.016. Epub 2015 Sep 2.

45.

Efficacy of a Bio-Absorbable Antibacterial Envelope to Prevent Cardiac Implantable Electronic Device Infections in High-Risk Subjects.

Kolek MJ, Patel NJ, Clair WK, Whalen SP, Rottman JN, Kanagasundram A, Shen ST, Saavedra PJ, Estrada JC, Abraham RL, Ellis CR.

J Cardiovasc Electrophysiol. 2015 Oct;26(10):1111-6. doi: 10.1111/jce.12768. Epub 2015 Sep 6.

46.

Common genetic variants and response to atrial fibrillation ablation.

Shoemaker MB, Bollmann A, Lubitz SA, Ueberham L, Saini H, Montgomery J, Edwards T, Yoneda Z, Sinner MF, Arya A, Sommer P, Delaney J, Goyal SK, Saavedra P, Kanagasundram A, Whalen SP, Roden DM, Hindricks G, Ellis CR, Ellinor PT, Darbar D, Husser D.

Circ Arrhythm Electrophysiol. 2015 Apr;8(2):296-302. doi: 10.1161/CIRCEP.114.001909. Epub 2015 Feb 14.

47.

Comparison of seeding methods for visualization of the corticospinal tracts using single tensor tractography.

Radmanesh A, Zamani AA, Whalen S, Tie Y, Suarez RO, Golby AJ.

Clin Neurol Neurosurg. 2015 Feb;129:44-9. doi: 10.1016/j.clineuro.2014.11.021. Epub 2014 Dec 8.

48.

Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.

Teixeira SR, Blondiaux E, Cassart M, Couture A, Moutard ML, Whalen S, Gelot A, Ducou le Pointe H, Garel C; GRRIF (Groupe de Recherche Radiopédiatrique en Imagerie Fœtale)-SFIPP (Société Francophone d'Imagerie Pédiatrique et Prénatale).

Prenat Diagn. 2015 Apr;35(4):337-41. doi: 10.1002/pd.4543. Epub 2015 Jan 5.

PMID:
25475607
49.

Enhancing the functional content of eukaryotic protein interaction networks.

Pandey G, Arora S, Manocha S, Whalen S.

PLoS One. 2014 Oct 2;9(10):e109130. doi: 10.1371/journal.pone.0109130. eCollection 2014.

50.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

López-González V, Domingo-Jiménez MR, Burglen L, Ballesta-Martínez MJ, Whalen S, Piñero-Fernández JA, Guillén-Navarro E.

An Pediatr (Barc). 2015 Jan;82(1):e12-6. doi: 10.1016/j.anpedi.2014.06.017. Epub 2014 Jul 28. Spanish.

Supplemental Content

Loading ...
Support Center