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Items: 1 to 50 of 213

1.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2019 Jul 18. doi: 10.1038/s41436-019-0609-8. [Epub ahead of print]

PMID:
31316167
2.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C.

Genet Med. 2019 Jun 26. doi: 10.1038/s41436-019-0585-z. [Epub ahead of print]

PMID:
31239556
3.

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

Ree R, Geithus AS, Tørring PM, Sørensen KP, Damkjær M; DDD study, Lynch SA, Arnesen T.

BMC Med Genet. 2019 Jun 7;20(1):101. doi: 10.1186/s12881-019-0803-1.

4.

The clinical presentation caused by truncating CHD8 variants.

Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study, Banka S.

Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14.

PMID:
31001818
5.

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.

McVeigh TP, Kelly LJ, Whitmore E, Clark T, Mullaney B, Barton DE, Ward A, Lynch SA.

Eur J Hum Genet. 2019 Aug;27(8):1178-1185. doi: 10.1038/s41431-019-0391-8. Epub 2019 Apr 12.

PMID:
30979968
6.

Towards establishing consistency in triage in a tertiary specialty.

McVeigh TP, Donnelly D, Al Shehhi M, Jones EA, Murray A, Wedderburn S, Porteous M, Lynch SA.

Eur J Hum Genet. 2019 Apr;27(4):547-555. doi: 10.1038/s41431-018-0322-0. Epub 2019 Jan 8.

PMID:
30622329
7.

Pathogenicity and selective constraint on variation near splice sites.

Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study.

Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26.

8.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

PMID:
30409806
9.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
10.

Role of the intertidal predatory shore crab Carcinus maenas in transmission dynamics of ostreid herpesvirus-1 microvariant.

Bookelaar BE, O'Reilly AJ, Lynch SA, Culloty SC.

Dis Aquat Organ. 2018 Sep 27;130(3):221-233. doi: 10.3354/dao03264.

PMID:
30259874
11.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study, Goldstein DB, Anyane-Yeboa K.

Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8.

PMID:
30194818
12.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

13.

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Al Shehhi M, Forman EB, Fitzgerald JE, McInerney V, Krawczyk J, Shen S, Betts DR, Ardle LM, Gorman KM, King MD, Green A, Gallagher L, Lynch SA.

Eur J Med Genet. 2019 Mar;62(3):204-209. doi: 10.1016/j.ejmg.2018.07.015. Epub 2018 Jul 18.

PMID:
30031152
14.

Opportunities and perspectives for utilisation of co-products in the meat industry.

Lynch SA, Mullen AM, O'Neill E, Drummond L, Álvarez C.

Meat Sci. 2018 Oct;144:62-73. doi: 10.1016/j.meatsci.2018.06.019. Epub 2018 Jun 19. Review.

PMID:
29945746
15.

A perinatal approach to genetic disorders in Irish Travellers: A review.

Mone F, McAuliffe FM, Lynch SA.

Eur J Obstet Gynecol Reprod Biol. 2018 Sep;228:43-47. doi: 10.1016/j.ejogrb.2018.06.013. Epub 2018 Jun 9. Review.

PMID:
29908377
16.

Further delineation of Malan syndrome.

Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC.

Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25.

17.

Assessment of the effects of sulfated polysaccharides extracted from the red seaweed Irish moss Chondrus crispus on the immune-stimulant activity in mussels Mytilus spp.

Rudtanatip T, Lynch SA, Wongprasert K, Culloty SC.

Fish Shellfish Immunol. 2018 Apr;75:284-290. doi: 10.1016/j.fsi.2018.02.014. Epub 2018 Feb 10.

PMID:
29438847
18.

Non-syndromic bilateral ulnar aplasia with humero-radial synostosis and oligo-ectro-dactyly.

McVeigh TP, Soye JA, Gordon E, Lynch SA.

Am J Med Genet A. 2018 May;176(5):1180-1183. doi: 10.1002/ajmg.a.38632. Epub 2018 Feb 10.

PMID:
29427337
19.

Catalogue of inherited disorders found among the Irish Traveller population.

Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J.

J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22.

PMID:
29358271
20.

The role of the mussel Mytilus spp. in the transmission of ostreid herpesvirus-1 microVar.

O' Reilly AJ, Laide C, Maloy A, Hutton S, Bookelaar B, O' Sullivan K, Lynch SA, Culloty SC.

Parasitology. 2018 Jul;145(8):1095-1104. doi: 10.1017/S0031182017002244. Epub 2017 Dec 21.

PMID:
29262879
21.

The contribution of 7q33 copy number variations for intellectual disability.

Lopes F, Torres F, Lynch SA, Jorge A, Sousa S, Silva J, Rendeiro P, Tavares P, Fortuna AM, Maciel P.

Neurogenetics. 2018 Jan;19(1):27-40. doi: 10.1007/s10048-017-0533-5. Epub 2017 Dec 19.

PMID:
29260337
22.

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD.

Arch Dis Child. 2018 Mar;103(3):304. doi: 10.1136/archdischild-2017-313240. Epub 2017 Sep 22. No abstract available.

PMID:
28939639
23.

Optimization of protein recovery from bovine lung by pH shift process using response surface methodology.

Lynch SA, Álvarez C, O'Neill EE, Keenan DF, Mullen AM.

J Sci Food Agric. 2018 Mar;98(5):1951-1960. doi: 10.1002/jsfa.8678. Epub 2017 Nov 28.

PMID:
28914454
24.

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Gorman KM, Forman E, Conroy J, Allen NM, Shahwan A, Lynch SA, Ennis S, King MD.

Epilepsia. 2017 Jul;58(7):1301-1302. doi: 10.1111/epi.13794. No abstract available.

25.

A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.

Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA.

J Neurol. 2017 Jul;264(7):1444-1453. doi: 10.1007/s00415-017-8545-5. Epub 2017 Jun 15.

PMID:
28620721
26.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

27.

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

McGovern M, Flanagan O, Lynch B, Lynch SA, Allen NM.

Clin Genet. 2017 Oct;92(4):447-448. doi: 10.1111/cge.13016. Epub 2017 May 25.

PMID:
28542708
28.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, Herkert JC, Marco EJ, Willemsen MH, Kleefstra T, Hannibal M, Shieh JT, Lynch SA, Flinter F, FitzPatrick DR, Gardham A, Bernhard B, Ragge N, Newbury-Ecob R, Bernier R, Kvarnung M, Magnusson EA, Wessels MW, van Slegtenhorst MA, Monaghan KG, de Vries P, Veltman JA; Deciphering Developmental Disorders Study, Lord CJ, Vissers LE, de Vries BB.

Am J Hum Genet. 2017 Apr 6;100(4):650-658. doi: 10.1016/j.ajhg.2017.02.005. Epub 2017 Mar 23.

29.

FOXN1 Duplication and Congenital Hypertrichosis.

Gilhooley E, Gormally S, Irvine A, Lynch SA, Collins S.

Pediatr Dermatol. 2017 Mar;34(2):e77-e79. doi: 10.1111/pde.13078.

PMID:
28297140
30.

Congenital radial head dislocation and low immunoglobulin M levels in 6p25.3 deletion.

Walsh Ó, Heffernan C, Ryan S, Butler K, Lynch SA.

Clin Dysmorphol. 2017 Jul;26(3):181-184. doi: 10.1097/MCD.0000000000000178. No abstract available.

PMID:
28277378
31.

Incidence of Fragile X syndrome in Ireland.

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA.

Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3.

PMID:
28157260
32.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, Lynch SA, Lam W, Fannemel M, Nordgren A, Malmgren H, Kvarnung M, Mehta S, McKee S, Whiteford M, Stewart F, Connell F, Clayton-Smith J, Mansour S, Mohammed S, Fryer A, Morton J; UK10K Consortium, Grozeva D, Asam T, Moore D, Sifrim A, McRae J, Hurles ME, Firth HV, Raymond FL, Kini U, Nellåker C, Ddd Study, FitzPatrick DR.

Genet Med. 2017 Aug;19(8):900-908. doi: 10.1038/gim.2016.211. Epub 2017 Feb 2.

33.

Genome-wide mapping of mutations at single-nucleotide resolution for protein, metabolic and genome engineering.

Garst AD, Bassalo MC, Pines G, Lynch SA, Halweg-Edwards AL, Liu R, Liang L, Wang Z, Zeitoun R, Alexander WG, Gill RT.

Nat Biotechnol. 2017 Jan;35(1):48-55. doi: 10.1038/nbt.3718. Epub 2016 Dec 12.

PMID:
27941803
34.

Occurrence of OsHV-1 in Crassostrea gigas Cultured in Ireland during an Exceptionally Warm Summer. Selection of Less Susceptible Oysters.

Prado-Alvarez M, Darmody G, Hutton S, O'Reilly A, Lynch SA, Culloty SC.

Front Physiol. 2016 Nov 8;7:492. eCollection 2016.

35.

Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

O'Riordan AM, McGrath N, Sharif F, Murphy NP, Franklin O, Lynch SA, O'Grady MJ.

Eur J Pediatr. 2017 Jan;176(1):137-142. doi: 10.1007/s00431-016-2802-y. Epub 2016 Nov 8.

PMID:
27826649
36.

Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.

O'Byrne JJ, Ryan H, Murray DJ, Regan R, Betts DR, Murphy N, Casey JP, Lynch SA.

Am J Med Genet A. 2017 Jan;173(1):274-279. doi: 10.1002/ajmg.a.38001. Epub 2016 Oct 24.

PMID:
27774767
37.

Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing.

Casey J, Flood K, Ennis S, Doyle E, Farrell M, Lynch SA.

Prenat Diagn. 2016 Nov;36(11):1020-1026. doi: 10.1002/pd.4925. Epub 2016 Oct 2.

PMID:
27616680
38.

Epidemiology of chromosomal trisomies in the East of Ireland.

McDonnell R, Monteith C, Kennelly M, Martin A, Betts D, Delany V, Lynch SA, Coulter-Smith S, Sheehan S, Mahony R.

J Public Health (Oxf). 2017 Dec 1;39(4):e145-e151. doi: 10.1093/pubmed/fdw087.

PMID:
27591300
39.

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

Allen NM, Conroy J, Deonna T, McCreary D, McGettigan P, Madigan C, Carter I, Ennis S, Lynch SA, Shahwan A, King MD.

Epilepsy Behav Case Rep. 2016 Apr 23;6:42-8. doi: 10.1016/j.ebcr.2016.04.003. eCollection 2016.

40.

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. doi: 10.1097/MCD.0000000000000143.

PMID:
27465822
41.

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD.

Am J Med Genet A. 2016 Nov;170(11):3048-3050. doi: 10.1002/ajmg.a.37849. Epub 2016 Jul 18. No abstract available.

42.

Definitive chemoradiation alters the immunologic landscape and immune checkpoints in head and neck cancer.

Sridharan V, Margalit DN, Lynch SA, Severgnini M, Zhou J, Chau NG, Rabinowits G, Lorch JH, Hammerman PS, Hodi FS, Haddad RI, Tishler RB, Schoenfeld JD.

Br J Cancer. 2016 Jul 12;115(2):252-60. doi: 10.1038/bjc.2016.166. Epub 2016 Jul 5.

43.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V.

Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.

44.

Effects of definitive chemoradiation on circulating immunologic angiogenic cytokines in head and neck cancer patients.

Sridharan V, Margalit DN, Lynch SA, Severgnini M, Hodi FS, Haddad RI, Tishler RB, Schoenfeld JD.

J Immunother Cancer. 2016 Jun 21;4:32. doi: 10.1186/s40425-016-0138-9. eCollection 2016.

45.

One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.

Butler GH, Boyle M, Lynch SA, Ryan S, McDermott M, Capra M.

J Pediatr Hematol Oncol. 2016 Aug;38(6):e191-2. doi: 10.1097/MPH.0000000000000619.

PMID:
27322716
46.

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.

Casey J, Jenkinson A, Magee A, Ennis S, Monavari A, Green A, Lynch SA, Crushell E, Hughes J.

Clin Dysmorphol. 2016 Oct;25(4):146-51. doi: 10.1097/MCD.0000000000000134.

PMID:
27295358
47.

Anatomic Tunnel Placement in Anterior Cruciate Ligament Reconstruction.

Dhawan A, Gallo RA, Lynch SA.

J Am Acad Orthop Surg. 2016 Jul;24(7):443-54. doi: 10.5435/JAAOS-D-14-00465. Review.

PMID:
27243794
48.

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD.

J Hum Genet. 2016 Aug;61(8):761-4. doi: 10.1038/jhg.2016.44. Epub 2016 May 19.

PMID:
27193218
49.

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.

Coyle D, Kutasy B, Han Suyin K, Antao B, Lynch SA, McDermott MB, O'Connell SM, Quinn F.

J Pediatr Urol. 2016 Oct;12(5):283.e1-283.e7. doi: 10.1016/j.jpurol.2016.02.009. Epub 2016 Mar 3.

PMID:
27052295
50.

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA.

Hum Mol Genet. 2016 May 1;25(9):1824-35. doi: 10.1093/hmg/ddw054. Epub 2016 Feb 21.

PMID:
26908619

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