Dr. Willie Reardon

MD FRCPI DCH FRCPCH FRCPath FRCP(Lond)

Consultant Clinical Geneticist

REFEREED JOURNALS

Dr. Reardon is a prolific contributor to medical publications, as listed below from 1989 to 2021.

2021

Establishing or Excluding a Diagnosis of Fetal Valproate Spectrum Disorder is a Multi-layered Process.

Kalim, A. Reardon W. Irish medical journal 2021: Vol 114; No. 6; P382

 Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.

Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P.Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28.PMID: 32860008 Free PMC article.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM.Genet Med. 2021 Apr;23(4):645-652. doi: 10.1038/s41436-020-01040-6. Epub 2020 Nov 27.PMID: 33244165

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.

Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM.Clin Genet. 2021 Feb;99(2):303-308. doi: 10.1111/cge.13873. Epub 2020 Nov 9.PMID: 33131077

Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.

Radley JA, Connolly M, Sabir A, Kanani F, Carley H, Jones RL, Hyder Z, Gompertz L, Reardon W, Richardson R, McClelland L, Maher ER.Clin Genet. 2021 May 16. doi:10.1111/cge.13997. Online ahead of print.PMID: 33993487

2020

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM.Eur J Hum Genet. 2020 Mar;28(3):367-372. doi: 10.1038/s41431-019-0558-3. Epub 2019 Dec 10.PMID: 31822863 Free PMC article.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12.PMID: 31794058

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

Sasaki E, Byrne AT, Murray DJ, Reardon W.Am J Med Genet A. 2020 Dec;182(12):2994-2998. doi: 10.1002/ajmg.a.61882. Epub 2020 Sep 25.PMID: 32975022

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM.
Eur J Hum Genet. 2020 Mar;28(3):367-372.

2019

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.
Am J Hum Genet. 2019 Aug 1;105(2):283-301.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.
Am J Hum Genet. 2019 May 2;104(5):914-924.

A review of filamin A mutations and associated interstitial lung disease 

Sasaki E, Byrne AT, Phelan E, Cox DW, Reardon W
Eur J Pediatr. 2019 Feb;178(2):121-129. Epub 2018 Dec 13.

Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.

Delaney S, O'Connor G, Reardon W, Murphy SJX, Tierney S, Ryan BM, Delaney H, Doherty CP, Guiney M, Brennan P, Tobin WO, McCabe DJH.
Front Neurol. 2019 Jan 29;9:1194.

Type VI syndactyly with skeletal dysplasia: a new syndrome?

Sasaki E, Phelan E, Brenner C, Brosnahan D, Reardon W
Clin Dysmorphol. 2019 Jan;28(1):30-34

2018

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W.
Hum Mutat. 2018 Sep;39(9):1246-1261. Epub 2018 Jul 4.

2017

Further-Clinical-Delineation-of-the-MEF2C-Haploinsufficieny-Syndrome

Vrecar I, Innes J, Jopnes EA, Kingston H, Reardon W, Kerr B, Clayton-Smith J, Dozgou S.  
J Pediatr genet 2017 Sep;6:129-41

Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness

O'Byrne JJ, Laffan E, Murray DJ, Reardon W
Am J Med Genet A. 2017 May; 173(5):1374-1377. Epub 2017 Mar 20. PMID: 28317252

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.
Am J Hum Genet. 2017 May 4;100(5):773-788. PMID: 28475860

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.
Clin Genet. 2017 Apr;91(4):576-588

2016

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC.
Am J Med Genet A. 2016 Dec;170(12):3069-3082

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Gobius I, Morcom L, Suárez R, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ.
Cell Rep. 2016 Oct 11;17(3):735-747

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study
Clin Dysmorphol. 2016 Oct;25(4):135-45

Germline mosaicism in osteopathia striata with cranial sclerosis--recurrence in siblings

O'Byrne JJ, Phelan E, Steenackers E, van Hul W, Reardon W.
Clin Dysmorphol. 2016 Apr;25(2):45-9

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus: a recurrent clinical finding.

Al-Shehhi M, Betts D, Mc Ardle L, Donoghue V, Reardon W.
Clin Dysmorphol. 2016 Jan;25(1):23-6.

2015

NSD1 mutations generate a genome-wide DNA methylation signature.

Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R.
Nat Commun. 2015 Dec 22;6:10207.

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

McVeigh TP, Banka S, Reardon W.
Clin Dysmorphol. 2015 Oct;24(4):135-9.  

Three new families with recurrent male miscarriages and hypercoiled umbilical cord

Hoffman JD, Kleeman L, Kennelly K, Honey E, Reardon W.
Clin Dysmorphol. 2015 Jul;24(3):128-31.

FBN1 contributing to familial congenital diaphragmatic hernia.

Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA.
Am J Med Genet A. 2015 Mar 3. doi: 10.1002/ajmg.a.36960. [Epub 2015 Mar 3]

2014

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J.
Eur J Hum Genet. 2014 Nov 26. doi: 10.1038/ejhg.2014.248. [Epub 2014 Nov 26]

Central 22q11.2 deletions.

Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM.
Am J Med Genet A. 2014 Nov;164A(11):2707-23.

Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.

Dhar R, Reardon W, McMahon CJ.
Cardiol Young. 2014 Jul 15:1-3. [Epub 2014 Jul 14]

A case of recurrent familial male miscarriages with hypercoiled umbilical cord: a possible X-linked assocation?

Beggan C, Mooney EE, Downey P, Carroll S, Reardon W.
Clin Dysmorphol. 2014 Jan;23(1):26-28.

2013

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.
Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.
Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

Mutations in PIK3R1 cause SHORT syndrome.

Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM.
Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.
Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K.
Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub 2013 Jan 2.

2012

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, et al.
Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28.

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.

Crushell E, O'Leary D, Irvine AD, O'Shea A, Mayne PD, Reardon W.
Am J Med Genet A. 2012 Sep;158A(9):2254-7. doi: 10.1002/ajmg.a.35479. Epub 2012 Jul 27.

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D.
Am J Med Genet A. 2012 Aug;158A(8):1977-81. doi: 10.1002/ajmg.a.35436. Epub 2012 Jun 18. Review.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, et al.
Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15.

Perrault syndrome: further evidence for genetic heterogeneity.

Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SH, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG.
J Neurol. 2012 May;259(5):974-6. doi: 10.1007/s00415-011-6285-5. Epub 2011 Oct 27. No abstract available.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, et al.
Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.

Update on Kleefstra Syndrome.

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, et al.
Mol Syndromol. 2012 Apr;2(3-5):202-212. Epub 2012 Jan 24.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.
Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR.
Eur J Hum Genet. 2012 Feb;20(2):166-70. doi: 10.1038/ejhg.2011.157. Epub 2011 Sep 14.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, et al.
J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

2011

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, et al.
Oncotarget. 2011 Dec;2(12):1127-33.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C.
Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29.

Pierpont syndrome: a collaborative study.

Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D.
Am J Med Genet A. 2011 Sep;155A(9):2203-11. doi: 10.1002/ajmg.a.34147. Epub 2011 Aug 10.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.
Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE.
Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783.

2010

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
Eur J Pediatr. 2010 Aug;169(8):941-9. doi: 10.1007/s00431-010-1144-4. Epub 2010 Feb 23.

Mutations in HPSE2 cause urofacial syndrome.

Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG.
Am J Hum Genet. 2010 Jun 11;86(6):963-9. Erratum in: Am J Hum Genet. 2010 Aug 13;87(2):309.

Elevated TSH levels in a mentally retarded boy.

Crushell E, Reardon W.
Eur J Pediatr. 2010 May;169(5):573-5. doi: 10.1007/s00431-009-1075-0.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

D'haene B, Nevado J, Pugeat M, Pierquin G, Lowry RB, Reardon W, Delicado A, García-Miñaur S, Palomares M, Courtens W, Stefanova M, Wallace S, Watkins W, Shelling AN, Wieczorek D, Veitia RA, De Paepe A, Lapunzina P, De Baere E.
Hum Mutat. 2010 May;31(5):E1332-47. doi: 10.1002/humu.21233.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, et al.
Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.

2009

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

Barnett CP, Mendoza-Londono R, Blaser S, Gillis J, Dupuis L, Levin AV, Chiang PW, Spector E, Reardon W.
Am J Med Genet A. 2009 Mar;149A(3):431-6. doi: 10.1002/ajmg.a.32657.

The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height.

Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, Kingsbury DJ, Anadiotis G, McGillivray BC, Hellemans J, de Leeuw N, de Vries BB, Speleman F, Menten B, Mortier G.
Eur J Med Genet. 2009 Mar-Jun;52(2-3):101-7. doi: 10.1016/j.ejmg.2009.03.001. Epub 2009 Mar 17.

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, Zasloff M, Morhart R, Mundlos S, Groppe J, Shore EM.
Hum Mutat. 2009 Mar;30(3):379-90. doi: 10.1002/humu.20868.

2008

Clinical and radiological findings in Schinzel-Giedion syndrome.

Al-Mudaffer M, Oley C, Price S, Hayes I, Stewart A, Hall CM, Reardon W.
Eur J Pediatr. 2008 Dec;167(12):1399-407. doi: 10.1007/s00431-008-0683-4. Epub 2008 May 7.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, et al.
N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ.
Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440.

Pregnancy and perinatal outcomes after assisted reproduction: a comparative study.

Allen C, Bowdin S, Harrison RF, Sutcliffe AG, Brueton L, Kirby G, Kirkman-Brown J, Barrett C, Reardon W, Maher E.
Ir J Med Sci. 2008 Sep;177(3):233-41. doi: 10.1007/s11845-008-0172-9. Epub 2008 Jun 3.

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome.

Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W.
Clin Dysmorphol. 2008 Jul;17(3):199-202. doi: 10.1097/MCD.0b013e3282f5f4e3. No abstract available.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, et al.
J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4.

Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.

Reardon W, Temple IK.
Am J Med Genet A. 2008 May 15;146A(10):1296-8. doi: 10.1002/ajmg.a.32250.

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Wieland I, Makarov R, Reardon W, Tinschert S, Goldenberg A, Thierry P, Wieacker P.
Eur J Hum Genet. 2008 Feb;16(2):184-91. Epub 2007 Nov 28.

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Shahdadpuri R, de Vries B, Pfundt R, de Leeuw N, Reardon W.
Am J Med Genet A. 2008 Jan 15;146A(2):233-7.

Job syndrome masquerading as non-accidental injury.

Walsh J, Reardon W.
Arch Dis Child. 2008 Jan;93(1):65-7. Epub 2007 Sep 5.

2007

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V.
Am J Hum Genet. 2007 Dec;81(6):1169-85. Epub 2007 Oct 22.

A survey of assisted reproductive technology births and imprinting disorders.

Bowdin S, Allen C, Kirby G, Brueton L, Afnan M, Barratt C, Kirkman-Brown J, Harrison R, Maher ER, Reardon W.
Hum Reprod. 2007 Dec;22(12):3237-40. Epub 2007 Oct 5.

Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

Reardon W, Casserly LF, Birkenhäger R, Kohlhase J.
Am J Med Genet A. 2007 Nov 1;143A(21):2588-91.

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.

Suri M, Kelehan P, O'neill D, Vadeyar S, Grant J, Ahmed SF, Tolmie J, McCann E, Lam W, Smith S, Fitzpatrick D, Hastie ND, Reardon W.
Am J Med Genet A. 2007 Oct 1;143A(19):2312-20.

Bilateral optic disk swelling in the 4q34 deletion syndrome.

Connell P, Brosnahan D, Dunlop A, Reardon W.
J AAPOS. 2007 Oct;11(5):516-8.

Kallmann syndrome presenting as congenital ptosis in brothers.

Reardon W.
Clin Dysmorphol. 2007 Jul;16(3):207-8. No abstract available.

Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.

Tang B, Reardon W, Black GC, Kerr BA.
Clin Dysmorphol. 2007 Jul;16(3):203-6. No abstract available.

Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).

Foley P, McAuliffe F, Mullarkey M, Reardon W.
Clin Dysmorphol. 2007 Jul;16(3):177-9. No abstract available.

Bipolar affective disorder associated with 11q24.2 disruption--a second report.

Reardon W, Dunlop A, Holden ST, Blennerhassett R.
Am J Med Genet A. 2007 Jun 15;143A(12):1263-7.

Characterization of optical coherence topography findings in Kenny-Caffey syndrome.

Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D.
J AAPOS. 2007 Jun;11(3):291-3. Epub 2007 Mar 13.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.
Am J Med Genet A. 2007 May 15;143A(10):1071-81.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.
Am J Hum Genet. 2007 May;80(5):994-1001. Epub 2007 Mar 23.

Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.

Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A.
Am J Hum Genet. 2007 Apr;80(4):751-8. Epub 2007 Feb 26.

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Entesarian M, Dahlqvist J, Shashi V, Stanley CS, Falahat B, Reardon W, Dahl N.
Eur J Hum Genet. 2007 Mar;15(3):379-82. Epub 2007 Jan 10.

Unexplained prelabor uterine rupture in a term primigravida.

Walsh CA, Reardon W, Foley ME.
Obstet Gynecol. 2007 Feb;109(2 Pt 1):455. No abstract available.

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

Bowdin S, Phelan E, Watson R, McCreery KM, Reardon W.
Clin Dysmorphol. 2007 Jan;16(1):21-5.

2006

Oculo-facio-cardio-dental syndrome in a mother and daughter.

McGovern E, Al-Mudaffer M, McMahon C, Brosnahan D, Fleming P, Reardon W.
Int J Oral Maxillofac Surg. 2006 Nov;35(11):1060-2. Epub 2006 Jul 10.

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Vogt J, Ryan E, Tischkowitz MD, Reardon W, Brueton LA.
Clin Dysmorphol. 2006 Jul;15(3):127-32.

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.
J Med Genet. 2006 Jun;43(6):541-4. Epub 2005 Nov 18.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G.
J Med Genet. 2006 May;43(5):401-5. Epub 2006 Jan 27.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, et al.
J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.

Assisted reproductive therapies and imprinting disorders--a preliminary British survey.

Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Clayton-Smith J, Brueton LA, Bannister W, Maher ER.
Hum Reprod. 2006 Apr;21(4):1009-11. Epub 2005 Dec 16.

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Al-Mudaffer M, Puri P, Reardon W.
Pediatr Surg Int. 2006 Apr;22(4):384-6. Epub 2006 Feb 17.

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

Lam WW, Kirk J, Manning N, Reardon W, Kelley RI, Fitzpatrick D.
Eur J Med Genet. 2006 Mar-Apr;49(2):195-9. Epub 2005 Jun 22.

The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.

McMahon CJ, Reardon W.
Cardiol Young. 2006 Feb;16(1):30-3.

2005

Clinical and molecular findings in IPEX syndrome.

Myers AK, Perroni L, Costigan C, Reardon W.
Arch Dis Child. 2006 Jan;91(1):63-4.

Asplenia in ATR-X syndrome: a second report.

Leahy RT, Philip RK, Gibbons RJ, Fisher C, Suri M, Reardon W.
Am J Med Genet A. 2005 Nov 15;139(1):37-9.

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB.
Eur J Hum Genet. 2005 Sep;13(9):1019-24.

Choanal atresia - a recurrent feature of foetal carbimazole syndrome.

Myers AK, Reardon W.
Clin Otolaryngol. 2005 Aug;30(4):375-7.

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P.
Hum Mutat. 2005 Aug;26(2):113-8.

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL.
Am J Hum Genet. 2005 May;76(5):729-49. Epub 2005 Mar 25.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, et al.
J Med Genet. 2005 Apr;42(4):307-13.

2004

Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Harrison IM, Brosnahan D, Phelan E, Fitzgerald RJ, Reardon W.
Am J Med Genet A. 2004 Nov 15;131(1):82-5. Review.

Congenital cardiac disease as a core feature of cranio-osteoarthropathy.

O'Connell S, Suri M, Duff D, Kelleher J, Hall CM, Reardon W.
Clin Dysmorphol. 2004 Oct;13(4):213-9.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J.
J Med Genet. 2004 Sep;41(9):e113. No abstract available.

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK.
J Med Genet. 2004 Jul;41(7):540-4. No abstract available.

2003

Moebius sequence and hypogonadotrophic hypogonadism.

Jennings JE, Costigan C, Reardon W.
Am J Med Genet A. 2003 Nov 15;123A(1):107-10.

Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?

Reardon W, McGinn M, King MD, Earley M.
Am J Med Genet A. 2003 Sep 15;122A(1):84-8.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W.
J Med Genet. 2003 Jul;40(7):473-8.

Broad thumbs and halluces with deafness: a patient with Keipert syndrome.

Reardon W, Hall CM.
Am J Med Genet A. 2003 Apr 1;118A(1):86-9.

Congenital ptosis with esotropia in brothers.

Madasseri AL, Mullaney P, Costigan C, Reardon W.
Clin Dysmorphol. 2003 Apr;12(2):115-7.

Neuro-otological findings in Pendred syndrome.

Luxon LM, Cohen M, Coffey RA, Phelps PD, Britton KE, Jan H, Trembath RC, Reardon W.
Int J Audiol. 2003 Mar;42(2):82-8.

2002

Okihiro syndrome is caused by SALL4 mutations.

Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W.
Hum Mol Genet. 2002 Nov 1;11(23):2979-87.

Mutation in KCNQ1 that has both recessive and dominant characteristics.

Murray A, Potet F, Bellocq C, Baró I, Reardon W, Hughes HE, Jeffery S.
J Med Genet. 2002 Sep;39(9):681-5. No abstract available.

Genitopatellar syndrome: a recognizable phenotype.

Reardon W.
Am J Med Genet. 2002 Aug 15;111(3):313-5.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, et al.
Am J Hum Genet. 2002 Aug;71(2):262-75. Epub 2002 Jun 19.

Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.

Concannon N, Hegarty AM, Stallings RL, Reardon W.
J Med Genet. 2002 Aug;39(8):e41. No abstract available.

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G.
Hum Genet. 2002 May;110(5):389-94. Epub 2002 Apr 9.

Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome.

Killeen OG, Kelehan P, Reardon W.
Clin Dysmorphol. 2002 Jan;11(1):25-8.

Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.

Kohlhase J, Heinrich M, Liebers M, Fröhlich Archangelo L, Reardon W, Kispert A.
Cytogenet Genome Res. 2002;98(4):274-7.

2001

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

Reardon W, Zhou XP, Eng C.
J Med Genet. 2001 Dec;38(12):820-3.

Three new European cases of urofacial (Ochoa) syndrome.

Garcia-Minaur S, Oliver F, Yanez JM, Soriano JR, Quinn F, Reardon W.
Clin Dysmorphol. 2001 Jul;10(3):165-70.

An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes.

Reardon W, Hall CM, Gorman W.
Clin Dysmorphol. 2001 Apr;10(2):123-8.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP.
J Med Genet. 2001 Jan;38(1):20-5.

2000

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

Astuto LM, Weston MD, Carney CA, Hoover DM, Cremers CW, Wagenaar M, Moller C, Smith RJ, Pieke-Dahl S, Greenberg J, Ramesar R, Jacobson SG, Ayuso C, Heckenlively JR, Tamayo M, Gorin MB, Reardon W, Kimberling WJ.
Am J Hum Genet. 2000 Dec;67(6):1569-74. Epub 2000 Nov 1.

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M.
Eur J Hum Genet. 2000 Dec;8(12):955-63.

Craniosynostosis. Diagnosis, evaluation and management

Reardon W.
J Med Genet. 2000 Sep;37(9):727. No abstract available.

An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities.

Plomp AS, Reardon W, Benton S, Taylor D, Larcher VF, Sundrum R, Winter RM.
Clin Dysmorphol. 2000 Jul;9(3):189-92.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, et al.
Am J Hum Genet. 2000 May;66(5):1504-15. Epub 2000 Apr 4. Erratum in: Am J Hum Genet 2000 Sep;67(3):769.

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W.
Hum Mol Genet. 2000 May 1;9(8):1251-5.

Oculo-ectodermal syndrome: report of two further cases.

Lees M, Taylor D, Atherton D, Reardon W.
Am J Med Genet. 2000 Apr 24;91(5):391-5. Review.

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD.
QJM. 2000 Feb;93(2):99-104.

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby G, Nelson I, Malcolm S, Adès L, Sillence D, Kumar D, DeLozier-Blanchet C, McKee S, Kelly T, McKeehan WL, Baraitser M, Winter RM.
J Med Genet. 2000 Jan;37(1):26-32.

1999

Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome.

Gill H, Michaels L, Phelps PD, Reardon W.
Clin Otolaryngol Allied Sci. 1999 Dec;24(6):523-6.

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W.
Eur J Pediatr. 1999 Nov;158(11):902-5.

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Colige A, Sieron AL, Li SW, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapière CM, Prockop DJ, Nusgens BV.
Am J Hum Genet. 1999 Aug;65(2):308-17.

Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family.

Vaidya B, Coffey R, Coyle B, Trembath R, San Lazaro C, Reardon W, Kendall-Taylor P.
J Clin Endocrinol Metab. 1999 Aug;84(8):2736-8.

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome.

Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall-Taylor P, Trembath R.
J Med Genet. 1999 Aug;36(8):595-8.

Further evidence from two families that craniofrontonasal dysplasia maps to Xp22.

Pulleyn LJ, Winter RM, Reardon W, McKeown C, Jones B, Hayward R, Evans R, Malcolm S.
Clin Genet. 1999 Jun;55(6):473-7.

Computed tomography evaluation of the inner ear as a diagnostic, counselling and management strategy in patients with congenital sensorineural hearing impairment.

Cross NC, Stephens SD, Francis M, Hourihan MD, Reardon W.
Clin Otolaryngol Allied Sci. 1999 Jun;24(3):235-8.

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van Camp G.
J Med Genet. 1999 Jun;36(6):475-7.

A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia.

Papapetrou C, Drummond F, Reardon W, Winter R, Spitz L, Edwards YH.
J Med Genet. 1999 Mar;36(3):208-13.

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML.
Nat Genet. 1999 Mar;21(3):302-4.

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, et al.
Am J Hum Genet. 1999 Feb;64(2):435-45.

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D.
Am J Hum Genet. 1999 Jan;64(1):118-25.

Congenital middle-ear cholesteatoma in branchio-oto-renal syndrome

Rajput K, Phelps PD, Alles R, Barnicoat A, Winter RM and Reardon W.
J Audiol Med 1999;8:30-37  No abstract available

1998

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T.
Nat Genet. 1998 Dec;20(4):358-61.

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.

Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P.
Am J Hum Genet. 1998 Oct;63(4):992-1000.

Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases.

Lees MM, Hodgkins P, Reardon W, Taylor D, Stanhope R, Jones B, Hayward R, Hockley AD, Baraitser M, Winter RM.
Clin Dysmorphol. 1998 Jul;7(3):157-62. Review.

Molecular analysis of the PDS gene in Pendred syndrome.

Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC.
Hum Mol Genet. 1998 Jul;7(7):1105-12.

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM.
Nat Genet. 1998 May;19(1):70-3.

Radiological malformations of the ear in Pendred syndrome.

Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SG, Pembrey ME, Reardon W.
Clin Radiol. 1998 Apr;53(4):268-73.

Craniosynostosis and chromosome 22q11 deletion.

Dean JC, De Silva DC, Reardon W.
J Med Genet. 1998 Apr;35(4):346; author reply 347. No abstract available.

Optic disc anomalies and frontonasal dysplasia.

Hodgkins P, Lees M, Lawson J, Reardon W, Leitch J, Thorogood P, Winter RM, Taylor DS.
Br J Ophthalmol. 1998 Mar;82(3):290-3.

1997

Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML.
Nat Genet. 1997 Sep;17(1):18-9. No abstract available.

The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.

Rose CS, Patel P, Reardon W, Malcolm S, Winter RM.
Hum Mol Genet. 1997 Aug;6(8):1369-73.

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
J Med Genet. 1997 Aug;34(8):632-6.

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.

Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ.
Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63.

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP.
Hum Mol Genet. 1997 Jul;6(7):1029-36.

Pendred syndrome--100 years of underascertainment?

Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R.
QJM. 1997 Jul;90(7):443-7.

Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

Fryssira H, Palmer R, Hallidie-Smith KA, Taylor J, Donnai D, Reardon W.
J Med Genet. 1997 Apr;34(4):306-8.

Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Gausden E, Coyle B, Armour JA, Coffey R, Grossman A, Fraser GR, Winter RM, Pembrey ME, Kendall-Taylor P, Stephens D, Luxon LM, Phelps PD, Reardon W, Trembath R.
J Med Genet. 1997 Feb;34(2):126-9.

Pitfalls in practice : diagnosis and misdiagnosis in Pendred syndrome

W Reardon, R Coffey, ME Pembrey, K Rajput, PD Phelps, LM Luxon, K Britton, A Grossman, P Kendall-Taylor and R Trembath.
J Audiol Med 1997;6:1-9.  No abstract available.

Historical Note - Dr. George Fraser

Reardon W.
J Audiol Med 1997;6(3):185-189. No abstract available.

1996

Hemihypertrophy, hemimegalencephaly, and polydactyly.

Reardon W, Harding B, Winter RM, Baraitser M.
Am J Med Genet. 1996 Dec 11;66(2):144-9.

Pendred syndrome.

Reardon W, Trembath RC.
J Med Genet. 1996 Dec;33(12):1037-40. Review. No abstract available.

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S.
J Med Genet. 1996 Sep;33(9):744-8.

Lumpers, splitters, and FGFRs.

Winter RM, Reardon W.
Am J Med Genet. 1996 Jun 14;63(3):501-2. 

Fibroblast growth factor receptor-2 mutations in craniosynostosis.

Malcolm S, Reardon W.
Ann N Y Acad Sci. 1996 Jun 8;785:164-70. Review. No abstract available.

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.

Gausden E, Armour JA, Coyle B, Coffey R, Hochberg Z, Pembrey M, Britton KE, Grossman A, Reardon W, Trembath R.
Clin Endocrinol (Oxf). 1996 Apr;44(4):441-6.

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.

Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.
Nat Genet. 1996 Apr;12(4):421-3.

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM.
Eur J Hum Genet. 1996;4(5):283-91.

FGFR mutations in craniosynostosis - molecular aspects of the phenotypes

W Reardon, B Jones, R Hayward, A Hockley, H Goldin, M Wake, S Malcolm, RM Winter.
Proc VIth Int Congress of ISCS 1996, 7-10. No abstract available.

1995

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al.
Hum Mol Genet. 1995 Nov;4(11):2131-7.

Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family.

Baraitser M, Reardon W, Vijeratnam S.
Am J Med Genet. 1995 Jul 3;57(3):380-4.

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

Wilkie AO, Yang SP, Summers D, Poole MD, Reardon W, Winter RM.
J Med Genet. 1995 Mar;32(3):174-80.

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al.
Nat Genet. 1995 Feb;9(2):173-6.

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.

Reardon W, Gibbons RJ, Winter RM, Baraitser M.
Am J Med Genet. 1995 Jan 30;55(3):285-7.

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

Reardon W, Winter RM, Smith LT, Lake BD, Rossiter M, Baraitser M.
Clin Dysmorphol. 1995 Jan;4(1):1-11. Review.

Apert Syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome

AOM Wilkie, SF Slaney, M Oldridge, MD Poole, GJ Ashworth, AD Hockley, RD Hayward, DJ David, LJ Pulleyn, P Rutland, S Malcolm, RM Winter, W Reardon.
Nature Genetics 1995;9:165-172

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome

M Oldridge, AOM Wilkie, SF Slaney, M Poole, LJ Pulleyn, P Rutland, AD Hockley, MJC Wake, JH Goldin, RM Winter, W Reardon, S Malcolm.
Hum Mol Genet 1995;4:1077-1082

1994

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S.
J Med Genet. 1994 Dec;31(12):916-21.

New case of the Carey-Fineman-Ziter syndrome.

Baraitser M, Reardon W.
Am J Med Genet. 1994 Nov 1;53(2):163-4.

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al.
Nat Genet. 1994 Nov;8(3):269-74.

New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.

Reardon W, Hall CM, Shaw DG, Kendall B, Hayward R, Winter RM.
Am J Med Genet. 1994 Oct 1;52(4):432-7.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S.
Nat Genet. 1994 Sep;8(1):98-103.

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

Reardon W, Hockey A, Silberstein P, Kendall B, Farag TI, Swash M, Stevenson R, Baraitser M.
Am J Med Genet. 1994 Aug 1;52(1):58-65.

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.

Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM.
Hum Mol Genet. 1994 Aug;3(8):1405-8.

Saethre-Chotzen syndrome.

Reardon W, Winter RM.
J Med Genet. 1994 May;31(5):393-6. Review. No abstract available.

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM.
Am J Hum Genet. 1994 Apr;54(4):669-74.

Mental retardation, microcephaly and blepharochalasis in brothers.

Reardon W, Winter RM, Wilson J, Baraitser M.
Clin Dysmorphol. 1994 Apr;3(2):128-31.

Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

Reardon W, van Herwerden L, Rose C, Jones B, Malcolm S, Winter RM.
J Med Genet. 1994 Mar;31(3):219-21.

Disordered peripheral nerve conduction in DOOR(S) syndrome.

Reardon W, Boyd S, Pitt MC, Wilson J, Winter RM.
Neuropediatrics. 1994 Feb;25(1):33-5.

Frontofacionasal dysplasia: a new case and review of the phenotype.

Reardon W, Winter RM, Taylor D, Baraitser M.
Clin Dysmorphol. 1994 Jan;3(1):70-9. Review.

Neuro-Otological Function in Patients with Myotonic Dystrophy

S.G.D. Stephens,  W. Reardon, P.S. Harper, T. Board, R. Meredith, A.C. Davies.
J Audiol Med 1994;3:8-22. No abstract available.

1993

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

Baraitser M, Reardon W, Oley C, Fixsen J.
Clin Dysmorphol. 1994 Jan;3(1):40-5. Review.

Neuro-otological function in X-linked hearing loss: a multipedigree assessment and correlation with other clinical parameters.

Reardon W, Bellman S, Phelps P, Pembrey M, Luxon LM.
Acta Otolaryngol. 1993 Nov;113(6):706-14.

Mesomelic limb shortness: a previously unreported autosomal recessive type.

Reardon W, Hall CM, Slaney S, Huson SM, Connell J, al-Hilaly N, Fixsen J, Baraitser M, Winter RM.
Am J Med Genet. 1993 Oct 1;47(5):788-92.

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

Reardon W, McManus SP, Summers D, Winter RM.
Am J Med Genet. 1993 Oct 1;47(5):633-6.

Cataract and myotonic dystrophy: the role of molecular diagnosis.

Reardon W, MacMillan JC, Myring J, Harley HG, Rundle SA, Beck L, Harper PS, Shaw DJ.
Br J Ophthalmol. 1993 Sep;77(9):579-83.

A new form of familial ataxia, deafness, and mental retardation.

Reardon W, Wilson J, Cavanagh N, Baraitser M.
J Med Genet. 1993 Aug;30(8):694-5.

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS.
Am J Hum Genet. 1993 Jun;52(6):1164-74.

Cerebellar ataxia and ectodermal dysplasia in brothers.

Baraitser M, Reardon W, McShane A, Wilson J.
J Med Genet. 1993 Jun;30(6):515-7.

Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.

Reardon W, Lewis N, Hughes HE.
J Med Genet. 1993 Apr;30(4):325-7.

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects.

Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS.
Arch Dis Child. 1993 Feb;68(2):177-81.

Hearing sensitivity in patients with myotonic dystrophy

S.G.D. Stephens, W. Reardon, P.S. Harper, T. Board and A.C. Davies.
J Audiol Med 1993 ;2:28-40. No abstract available.

1992

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.

Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC.
Lancet. 1992 Dec 5;340(8832):1376-9.

Localization of two genes for Usher syndrome type I to chromosome 11.

Smith RJ, Lee EC, Kimberling WJ, Daiger SP, Pelias MZ, Keats BJ, Jay M, Bird A, Reardon W, Guest M, et al.
Genomics. 1992 Dec;14(4):995-1002.

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Kimberling WJ, Möller CG, Davenport S, Priluck IA, Beighton PH, Greenberg J, Reardon W, Weston MD, Kenyon JB, Grunkemeyer JA, et al.
Genomics. 1992 Dec;14(4):988-94.

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

Reardon W, Roberts S, Phelps PD, Thomas NS, Beck L, Issac R, Hughes HE.
Am J Med Genet. 1992 Nov 1;44(4):513-7.

Minimal expression of myotonic dystrophy: a clinical and molecular analysis.

Reardon W, Harley HG, Brook JD, Rundle SA, Crow S, Harper PS, Shaw DJ.
J Med Genet. 1992 Nov;29(11):770-3.

Advances in myotonic dystrophy: a clinical and genetic perspective.

Reardon W, Harper PS.
Curr Opin Neurol Neurosurg. 1992 Oct;5(5):605-9. Review.

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers.

Reardon W, Floyd JL, Myring J, Lazarou LP, Meredith AL, Harper PS.
Am J Med Genet. 1992 Aug 1;43(6):1006-11.

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al.
Am J Hum Genet. 1992 Jul;51(1):38-44.

Anticipation in myotonic dystrophy: new light on an old problem

Harper PS, Harley HG, Reardon W, Shaw DJ.
Am J Hum Genet. 1992 Jul;51(1):10-6. Erratum in: Am J Hum Genet 1992 Oct;51(4):942.

Unstable DNA sequence in myotonic dystrophy.

Harley HG, Rundle SA, Reardon W, Myring J, Crow S, Brook JD, Harper PS, Shaw DJ.
Lancet. 1992 May 9;339(8802):1125-8.

Lethal congenital erythroderma: a newly recognised genetic disorder.

Shield JP, Judge MR, Reardon W, Baraitser M, Nohria M, Malone M, Harper JI.
Clin Genet. 1992 May;41(5):273-7.

Heart disease in myotonic dystrophy.

Harper PS, Reardon W.
Lancet. 1992 Apr 11;339(8798):939. No abstract available.

Anal abnormalities in childhood myotonic dystrophy--a possible source of confusion in child sexual abuse.

Reardon W, Hughes HE, Green SH, Lloyd Woolley V, Harper PS.
Arch Dis Child. 1992 Apr;67(4):527-8.

Clinical and genetic heterogeneity in X-linked deafness.

Reardon W, Middleton-Price HR, Malcolm S, Phelps P, Bellman S, Luxon L, Martin JA, Bumby A, Pembrey ME.
Br J Audiol. 1992 Apr;26(2):109-14.

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ.
Nature. 1992 Feb 6;355(6360):545-6.

Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.

MacMillan JC, Myring J, Harley HG, Reardon W, Harper PS, Shaw DJ.
Neuromuscul Disord. 1992;2(5-6):405-11.

Audiometric Detection of Carriers of Usher Syndrome Type II

R. Meredith, S.G.D. Stephens, C. Meyer‑Bisch, W. Reardon and T. Sirimanna.
J Audiol Med 1992;1:11‑19. No abstract available.

1991

A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

Reardon W, Middleton-Price HR, Sandkuijl L, Phelps P, Bellman S, Luxon L, Pembrey ME, Malcolm S.
Genomics. 1991 Dec;11(4):885-94.

Carrier detection for X-linked agammaglobulinaemia (Bruton type) in an Irish family using linked DNA probes.

Reardon W, Genet S, Middleton-Price H, Malcolm S, Feighery C.
Ir Med J. 1991 Dec-1992 Jan;84(4):116-8.

Heterogeneity in dominant anterior segment malformations.

Holmström GE, Reardon WP, Baraitser M, Elston JS, Taylor DS.
Br J Ophthalmol. 1991 Oct;75(10):591-7.

Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

Reardon W, Hall CM, Dillon MJ, Baraitser M.
J Med Genet. 1991 Sep;28(9):622-6.

Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma.

Reardon W, Temple IK, Harwood G, Baraitser M.
Clin Genet. 1991 Mar;39(3):172-7.

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L.
Neuroradiology. 1991;33(4):326-30.

1990

Two brothers with heart defects and limb shortening: case reports and review.

Reardon W, Hurst J, Farag TI, Hall C, Baraitser M.
J Med Genet. 1990 Dec;27(12):746-51. Review.

Partial lipodystrophy syndromes--a further male case.

Reardon W, Temple IK, Mackinnon H, Leonard JV, Baraitser M.
Clin Genet. 1990 Nov;38(5):391-5.

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

Reardon W, Temple IK, Jones B, Baraitser M.
Clin Genet. 1990 Sep;38(3):233-6.

Sex linked deafness: Wilde revisited.

Reardon W.
J Med Genet. 1990 Jun;27(6):376-9.

Median clefting of the upper lip associated with cutaneous polyps.

Reardon W, Jones B, Baraitser M.
J Med Genet. 1990 May;27(5):337-8.

Central nervous system malformations in Mohr's syndrome.

Reardon W, Harbord MG, Hall-Craggs MA, Kendall B, Brett EM, Baraitser M.
J Med Genet. 1989 Oct;26(10):659-63.

INVITED REVIEWS

Dr. Reardon has published several invited review papers in leading journals.

2013

The Resurrection of the Barr Body

Reardon W.
The Consultant 2013; 104-5

2011

Rare but real - the effects of sodium valproate in pregnancy

Reardon W.
Ir Med J. 2011 Jun;104(6):165-6. No abstract available.

2007

Dysmorphology Demystified

W Reardon and D Donnai.
Arch Dis Child; F92:225-9.

2005

Assisted Reproductive Technology and Defects of genomic Imprinting

C Allen and W Reardon.
Br J Obs and Gynae; 112:1589-94.

2000

Inherited deafness in childhood – the genetic revolution unmasks the clinical challenge

W Reardon and RF Mueller.
Arch Dis Child; 82:319-321.

1999

Elastin Mutation and Cardiac Disease

T Chowdhury and W Reardon
Paediatric Cardiology; 20:103-107.

1998

Craniofacial Developmental Abnormalities

F Elmslie and W Reardon
Curr Opin Neurol and Neurosurg; 11:103-108.

Connexin 26 gene mutation and autosomal recessive deafness

W Reardon.
Lancet; 351:383-384.

1996

Skeletal Dysplasias detectable by DNA analysis

W Reardon.
Prenatal Diagnosis; 16:1221-1236.

1995

The molecular pathology of syndromic craniosynostosis

W Reardon and RM Winter.
Mol Medicine Today; 1:432-437.

Mitochondrial Genetics and Deafness

W Reardon, AE Harding.
J Audiol Med; 4:40-51. No abstract available.

1992

Genetic Deafness

W Reardon.
J Med Genet; 29:521-526.

The Clinical Genetics of Deafness

W Reardon.
Br J Hosp Med; 47:507-511. No abstract available.

1990

The Genetics of Deafness

W Reardon, ME Pembrey.
Archives of Disease in Childhood; 65:1196‑1197.