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Items: 1 to 50 of 79

1.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J.

Patient Educ Couns. 2019 Aug 24. pii: S0738-3991(19)30358-1. doi: 10.1016/j.pec.2019.08.018. [Epub ahead of print]

PMID:
31521424
2.

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Wise-Oringer BK, Zanazzi GJ, Gordon RJ, Wardlaw SL, William C, Anyane-Yeboa K, Chung WK, Kohn B, Wisoff JH, David R, Oberfield SE.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4667-4675. doi: 10.1210/jc.2019-00817.

PMID:
31166600
3.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a004101. doi: 10.1101/mcs.a004101. Print 2019 Jun.

4.

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M.

Am J Hum Genet. 2019 May 2;104(5):990-993. doi: 10.1016/j.ajhg.2019.03.017. Epub 2019 Apr 18.

PMID:
31006510
5.

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK.

Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub 2019 Feb 18.

PMID:
30778173
6.

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.

Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.

Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.

PMID:
30712878
7.

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT.

Am J Med Genet A. 2018 Dec;176(12):2554-2560. doi: 10.1002/ajmg.a.60677. Epub 2018 Nov 26.

PMID:
30475435
8.

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
9.

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. Review.

PMID:
30194818
10.

Phylloid terminal hair nevus: A unique clinical entity.

Kittler NW, Antonov NK, Scripps TB, Anyane-Yeboa K, Garzon MC, Lauren CT.

Pediatr Dermatol. 2018 Nov;35(6):e404-e405. doi: 10.1111/pde.13616. Epub 2018 Aug 28.

PMID:
30152562
11.

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact.

Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK.

Clin Genet. 2018 May;93(5):1039-1048. doi: 10.1111/cge.13200. Epub 2018 Mar 13.

12.

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein DB, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson AL, Aggarwal VS, Anyane-Yeboa K.

Am J Med Genet A. 2017 Dec;173(12):3158-3164. doi: 10.1002/ajmg.a.38460. Epub 2017 Sep 22.

PMID:
28941020
13.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
14.

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY.

Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13.

15.

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

Roohi J, Crowe J, Loredan D, Anyane-Yeboa K, Mansukhani MM, Omesi L, Levine J, Revah Politi A, Zha S.

J Hum Genet. 2017 Apr;62(5):581-584. doi: 10.1038/jhg.2017.6. Epub 2017 Jan 26.

16.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

17.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C.

Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Erratum in: Genet Med. 2017 Aug;19(8):962.

PMID:
26986877
18.

Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.

Glasser CL, Picoraro JA, Jain P, Kinberg S, Rustia E, Gross Margolis K, Anyane-Yeboa K, Iglesias AD, Green NS.

J Pediatr Hematol Oncol. 2016 Oct;38(7):e243-7. doi: 10.1097/MPH.0000000000000660.

PMID:
27571123
19.

De novo mutations in PURA are associated with hypotonia and developmental delay.

Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK.

Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.

20.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

21.

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Wang Y, Lichter-Konecki U, Anyane-Yeboa K, Shaw JE, Lu JT, Östlund C, Shin JY, Clark LN, Gundersen GG, Nagy PL, Worman HJ.

J Cell Sci. 2016 May 15;129(10):1975-80. doi: 10.1242/jcs.187302. Epub 2016 Mar 31.

22.

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

Sparling DP, Fabian K, Harik L, Jobanputra V, Anyane-Yeboa K, Oberfield SE, Fennoy I.

J Pediatr Endocrinol Metab. 2016 May 1;29(5):627-31. doi: 10.1515/jpem-2015-0253.

23.

FTO variant associated with malformation syndrome.

Rohena L, Lawson M, Guzman E, Ganapathi M, Cho MT, Haverfield E, Anyane-Yeboa K.

Am J Med Genet A. 2016 Apr;170A(4):1023-8. doi: 10.1002/ajmg.a.37515. Epub 2015 Dec 24.

PMID:
26697951
24.

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K.

Am J Med Genet A. 2015 Dec;167A(12):3161-6. doi: 10.1002/ajmg.a.37342. Epub 2015 Sep 14. Review.

PMID:
26364555
25.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S.

J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3.

PMID:
26041762
26.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K.

Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13.

PMID:
25998219
27.

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.

Weitz NA, Lauren CT, Behr GG, Wu JK, Kandel JJ, Meyers PM, Sultan S, Anyane-Yeboa K, Morel KD, Garzon MC.

Pediatr Dermatol. 2015 Jan-Feb;32(1):76-84. doi: 10.1111/pde.12384. Epub 2014 Jul 21.

PMID:
25040287
28.

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

Agarwal NS, Northrop L, Anyane-Yeboa K, Aggarwal VS, Nagy PL, Demirdag YY.

J Clin Immunol. 2014 Aug;34(6):607-10. doi: 10.1007/s10875-014-0067-7. Epub 2014 Jun 17.

PMID:
24931897
29.

The usefulness of whole-exome sequencing in routine clinical practice.

Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, Sisson R, Egan C, Chung WK.

Genet Med. 2014 Dec;16(12):922-31. doi: 10.1038/gim.2014.58. Epub 2014 Jun 5.

PMID:
24901346
30.

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.

PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014.

31.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G.

Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11.

PMID:
24615390
32.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.

Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, Miller R.

Fetal Diagn Ther. 2014;36(1):74-80. doi: 10.1159/000357703. Epub 2014 Feb 21. Review.

PMID:
24577413
33.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA.

Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.

34.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

35.

Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies.

Jobanputra V, Wilson A, Shirazi M, Feenstra H, Levy B, Anyane-Yeboa K, Warburton D.

Am J Med Genet A. 2013 Sep;161A(9):2393-5. doi: 10.1002/ajmg.a.36040. Epub 2013 Jul 29. No abstract available.

PMID:
23897564
36.

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report.

Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield SE.

Int J Pediatr Endocrinol. 2013;2013(1):11. doi: 10.1186/1687-9856-2013-11. Epub 2013 Jun 28.

37.

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.

Behr GG, Liberman L, Compton J, Garzon MC, Morel KD, Lauren CT, Starc TJ, Kovacs SJ, Beltroni V, Landres R, Anyane-Yeboa K, Meyers PM, Bacha E, Kandel JJ.

Vasc Cell. 2012 Nov 20;4(1):19. doi: 10.1186/2045-824X-4-19.

38.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Schwarze U, Cundy T, Pyott SM, Christiansen HE, Hegde MR, Bank RA, Pals G, Ankala A, Conneely K, Seaver L, Yandow SM, Raney E, Babovic-Vuksanovic D, Stoler J, Ben-Neriah Z, Segel R, Lieberman S, Siderius L, Al-Aqeel A, Hannibal M, Hudgins L, McPherson E, Clemens M, Sussman MD, Steiner RD, Mahan J, Smith R, Anyane-Yeboa K, Wynn J, Chong K, Uster T, Aftimos S, Sutton VR, Davis EC, Kim LS, Weis MA, Eyre D, Byers PH.

Hum Mol Genet. 2013 Jan 1;22(1):1-17. doi: 10.1093/hmg/dds371. Epub 2012 Sep 4.

39.

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V, Carpenter L, Patton D, Cabral H, Rita D, Wilson A, Anyane-Yeboa K, White L, Friedman KJ.

Brain Dev. 2012 Oct;34(9):750-5. doi: 10.1016/j.braindev.2011.12.012. Epub 2012 Jan 25.

PMID:
22277191
40.

Retinoblastoma presenting in a child with hypomelanosis of Ito.

El-Sawy T, He L, Chiang MF, Anyane-Yeboa K, Morel KD, Folberg R, Marr BP, Abramson D.

Open Ophthalmol J. 2011;5:55-8. doi: 10.2174/1874364101105010055. Epub 2011 Dec 19.

41.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
42.

Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.

Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti Vanmarcke R, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pober BR.

Am J Med Genet A. 2010 Oct;152A(10):2493-504. doi: 10.1002/ajmg.a.33618.

43.

A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.

Lubell T, Garzon M, Anyane Yeboa K, Shah B.

J Clin Res Pediatr Endocrinol. 2009;1(5):244-7. doi: 10.4274/jcrpe.v1i5.244. Epub 2009 Aug 6.

44.

Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling.

Jobanputra V, Ash E, Anyane-Yeboa K, Warburton D, Levy B.

Am J Med Genet A. 2009 Jun;149A(6):1310-4. doi: 10.1002/ajmg.a.32680. No abstract available.

PMID:
19449399
45.

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.

Rhee D, Solowiejczyk D, Altmann K, Prakash A, Gersony WM, Stolar C, Kleinman C, Anyane-Yeboa K, Chung WK, Hsu D.

Arch Pediatr Adolesc Med. 2008 Sep;162(9):882-5. doi: 10.1001/archpedi.162.9.882.

PMID:
18762608
46.

Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis.

Sobin C, Kiley-Brabeck K, Daniels S, Khuri J, Taylor L, Blundell M, Anyane-Yeboa K, Karayiorgou M.

Child Neuropsychol. 2005 Feb;11(1):39-53.

47.

Cutis verticis gyrata in a patient with Noonan syndrome.

Fox LP, Geyer AS, Anyane-Yeboa K, Garzon MC.

Pediatr Dermatol. 2005 Mar-Apr;22(2):142-6.

PMID:
15804304
48.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements.

Jobanputra V, Sebat J, Troge J, Chung W, Anyane-Yeboa K, Wigler M, Warburton D.

Genet Med. 2005 Feb;7(2):111-8.

PMID:
15714078
49.

Networks of attention in children with the 22q11 deletion syndrome.

Sobin C, Kiley-Brabeck K, Daniels S, Blundell M, Anyane-Yeboa K, Karayiorgou M.

Dev Neuropsychol. 2004;26(2):611-26.

50.

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