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Items: 1 to 50 of 464

1.

Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives.

Thain E, Shuman C, Miller K, Sappleton K, Myles-Reid D, Chitayat D, Gibbons C.

J Genet Couns. 2019 Jul 16. doi: 10.1002/jgc4.1150. [Epub ahead of print]

PMID:
31313416
2.

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R.

BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y.

3.

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Niles KM, Blaser S, Shannon P, Chitayat D.

Prenat Diagn. 2019 Jun 20. doi: 10.1002/pd.5505. [Epub ahead of print] Review.

PMID:
31218730
4.

Warsaw Syndrome.

Alkhunaizi E, Brosh RM Jr, Alkuraya FS, Chitayat D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Jun 6.

5.

Increased nuchal translucency: results from microarray and RASopathy disorders testing.

Sinajon P, Chitayat D, Roifman M, Wasim S, Carmona S, Ryan G, Noor A, Kolomietz E, Chong K.

Ultrasound Obstet Gynecol. 2019 May 22. doi: 10.1002/uog.20352. [Epub ahead of print]

PMID:
31115076
6.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D.

Am J Med Genet A. 2019 Jul;179(7):1325-1329. doi: 10.1002/ajmg.a.61162. Epub 2019 May 9.

PMID:
31074124
7.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traore M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M.

Hum Mol Genet. 2019 May 1. pii: ddz091. doi: 10.1093/hmg/ddz091. [Epub ahead of print]

PMID:
31042281
8.

Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.

Al Toukhi S, Chitayat D, Keunen J, Roifman M, Seaward G, Windrim R, Ryan G, Van Mieghem T.

Prenat Diagn. 2019 Jun;39(7):544-548. doi: 10.1002/pd.5466. Epub 2019 May 15.

PMID:
31017676
9.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

Kim JH, Park EY, Chitayat D, Stachura DL, Schaper J, Lindstrom K, Jewett T, Wieczorek D, Draaisma JM, Sinnema M, Hoeberigs C, Hempel M, Bachman KK, Seeley AH, Stone JK, Kong HK, Vukadin L, Richard A, Shinde DN, McWalter K, Si YC, Douglas G, Lim ST, Vissers LELM, Lemaire M, Ahn EE.

Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15.

PMID:
31005274
10.

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M.

J Clin Invest. 2019 Apr 15;130:2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15.

11.

Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Waldman L, Shuman C, Cohn I, Kaiser A, Chitayat D, Wasim S, Hazell A.

Pharmacogenomics. 2019 Apr;20(5):319-329. doi: 10.2217/pgs-2018-0179. Epub 2019 Apr 15.

PMID:
30983503
12.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

13.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D.

Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16.

PMID:
30652412
14.

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.

Shuster S, Keunen J, Shannon P, Watkins N, Chong K, Chitayat D.

Prenat Diagn. 2019 Jan 16. doi: 10.1002/pd.5418. [Epub ahead of print]

PMID:
30650191
15.

Abnormal fetal cerebral and vascular development in hypoplastic left heart syndrome.

Kinnear C, Haranal M, Shannon P, Jaeggi E, Chitayat D, Mital S.

Prenat Diagn. 2019 Jan;39(1):38-44. doi: 10.1002/pd.5395. Epub 2018 Dec 27.

16.

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

AlRefai A, Drake J, Kulkarni AV, Connor KL, Shannon P, Toi A, Chitayat D, Blaser S, Church PT, Abbasi N, Ryan G, Van Mieghem T.

Prenat Diagn. 2019 Jan;39(1):10-15. doi: 10.1002/pd.5390. Epub 2018 Dec 10.

PMID:
30536580
17.

BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.

Van Ommeren RH, Gao AF, Blaser SI, Chitayat DA, Hazrati LN.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1071-1078. doi: 10.1093/jnen/nly093.

PMID:
30346566
18.

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PMID:
30293988
19.

Fetal Renal Echogenicity Associated with Maternal Focal Segmental Glomerulosclerosis: The Effect of Transplacental Transmission of Permeability Factor suPAR.

Shuster S, Ankawi G, Licht C, Reiser J, Wang X, Wei C, Chitayat D, Hladunewich M.

J Clin Med. 2018 Oct 4;7(10). pii: E324. doi: 10.3390/jcm7100324.

20.

Warsaw breakage syndrome: Further clinical and genetic delineation.

Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D.

Am J Med Genet A. 2018 Nov;176(11):2404-2418. doi: 10.1002/ajmg.a.40482. Epub 2018 Sep 14.

PMID:
30216658
21.

"A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition.

Weber E, Shuman C, Wasserman JD, Barrera M, Patenaude AF, Fung K, Chitayat D, Malkin D, Druker H.

Pediatr Blood Cancer. 2019 Jan;66(1):e27445. doi: 10.1002/pbc.27445. Epub 2018 Sep 11.

PMID:
30207072
22.

Risk of Major Malformations in Infants Following First-Trimester Exposure to Quetiapine.

Cohen LS, Góez-Mogollón L, Sosinsky AZ, Savella GM, Viguera AC, Chitayat D, Hernández-Díaz S, Freeman MP.

Am J Psychiatry. 2018 Dec 1;175(12):1225-1231. doi: 10.1176/appi.ajp.2018.18010098. Epub 2018 Aug 16.

PMID:
30111186
23.

Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease).

Costain G, Inbar-Feigenberg M, Saleh M, Yaniv-Salem S, Ryan G, Morgen E, Goh ES, Nishimura G, Chitayat D.

J Pediatr Genet. 2018 Sep;7(3):134-137. doi: 10.1055/s-0038-1636995. Epub 2018 Mar 9.

PMID:
30105123
24.

Autosomal Dominant Robinow Syndrome.

Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Jan 8 [updated 2018 Aug 9].

25.

An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().

Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ.

Am J Med Genet A. 2018 Sep;176(9):2041-2043. doi: 10.1002/ajmg.a.40360. Epub 2018 Aug 2. No abstract available.

PMID:
30070761
26.

Meconium peritonitis: the role of postnatal radiographic and sonographic findings in predicting the need for surgery.

Caro-Domínguez P, Zani A, Chitayat D, Daneman A.

Pediatr Radiol. 2018 Nov;48(12):1755-1762. doi: 10.1007/s00247-018-4198-5. Epub 2018 Jul 16.

PMID:
30014199
27.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

28.

Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study.

Roadhouse C, Shuman C, Anstey K, Sappleton K, Chitayat D, Ignagni E.

J Genet Couns. 2018 Jun 16. doi: 10.1007/s10897-018-0265-1. [Epub ahead of print]

PMID:
29909595
29.

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y, Chitayat D, Sawada H, Deardorff MA, McLaughlin HM, Begtrup A, Millar K, Harrington J, Chong K, Roifman M, Grand K, Tominaga M, Takada F, Shuster S, Obara M, Mutoh H, Kushima R, Nishimura G.

Am J Hum Genet. 2018 Jun 7;102(6):1104-1114. doi: 10.1016/j.ajhg.2018.04.006. Epub 2018 May 31.

30.

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Alrukban H, Chitayat D.

Appl Clin Genet. 2018 Apr 20;11:31-44. doi: 10.2147/TACG.S150982. eCollection 2018. Review.

31.

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies.

Cizmeci MN, Lequin M, Lichtenbelt KD, Chitayat D, Kannu P, James AG, Groenendaal F, Chakkarapani E, Blaser S, de Vries LS.

AJNR Am J Neuroradiol. 2018 Jun;39(6):1146-1152. doi: 10.3174/ajnr.A5611. Epub 2018 Apr 5.

32.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.

PMID:
29599419
33.

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Inbar-Feigenberg M, Blaser S, Hawkins C, Shannon P, Hewson S, Chitayat D.

Metab Brain Dis. 2018 Aug;33(4):1369-1373. doi: 10.1007/s11011-018-0218-2. Epub 2018 Mar 25.

PMID:
29574624
34.

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.

Baker J, Shuman C, Chitayat D, Wasim S, Okun N, Keunen J, Hofstedter R, Silver R.

J Genet Couns. 2018 Sep;27(5):1130-1147. doi: 10.1007/s10897-018-0231-y. Epub 2018 Mar 7.

PMID:
29516345
35.

Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.

Pipo-Deveza J, Fehlings D, Chitayat D, Yoon G, Sroka H, Tein I.

Mov Disord. 2018 Apr;33(4):656-657. doi: 10.1002/mds.27320. Epub 2018 Feb 13. No abstract available.

PMID:
29436745
36.

Mutation in the ADNP gene associated with Noonan syndrome features.

Alkhunaizi E, Walkiewicz MA, Chitayat D.

Clin Dysmorphol. 2018 Apr;27(2):53-57. doi: 10.1097/MCD.0000000000000215. No abstract available.

PMID:
29424797
37.

Prolonged duration of persistent cell-free fetal DNA from vanishing twin.

Niles KM, Murji A, Chitayat D.

Ultrasound Obstet Gynecol. 2018 Oct;52(4):547-548. doi: 10.1002/uog.19004. No abstract available.

PMID:
29330885
38.

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL.

Genet Med. 2018 Jul;20(7):745-753. doi: 10.1038/gim.2017.173. Epub 2017 Oct 26.

PMID:
29261186
39.

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM.

J Allergy Clin Immunol. 2018 Aug;142(2):618-629. doi: 10.1016/j.jaci.2017.10.033. Epub 2017 Nov 26.

PMID:
29180244
40.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.

Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S.

Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.

41.

Pregnancy in 3M syndrome.

Cusimano MC, Chitayat D, Injeyan M, Geary M.

J Obstet Gynaecol. 2018 Apr;38(3):421-422. doi: 10.1080/01443615.2017.1360849. Epub 2017 Oct 19. No abstract available.

PMID:
29046114
42.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study, Millard TH, Katsanis N, Brunner HG, Banka S.

Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007.

43.

No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.

Chitayat D, Langlois S, Wilson RD.

J Obstet Gynaecol Can. 2017 Sep;39(9):e380-e394. doi: 10.1016/j.jogc.2017.06.013.

PMID:
28859781
44.

No 261-Dépistage prénatal de l'aneuploïdie fœtale en ce qui concerne les grossesses monofœtales.

Chitayat D, Langlois S, Wilson RD.

J Obstet Gynaecol Can. 2017 Sep;39(9):e362-e379. doi: 10.1016/j.jogc.2017.06.014. French. No abstract available.

PMID:
28859780
45.

No 348-Directive clinique de la SOGC et du CCGM : mise à jour sur le dépistage prénatal de l’aneuploïdie fœtale, des anomalies fœtales et des issues défavorables de la grossesse.

Audibert F, De Bie I, Johnson JA, Okun N, Wilson RD, Armour C, Chitayat D, Kim R.

J Obstet Gynaecol Can. 2017 Sep;39(9):818-832. doi: 10.1016/j.jogc.2017.05.011. French. No abstract available. Erratum in: J Obstet Gynaecol Can. 2018 Aug;40(8):1110.

PMID:
28859767
46.

No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

Audibert F, De Bie I, Johnson JA, Okun N, Wilson RD, Armour C, Chitayat D, Kim R.

J Obstet Gynaecol Can. 2017 Sep;39(9):805-817. doi: 10.1016/j.jogc.2017.01.032. Erratum in: J Obstet Gynaecol Can. 2018 Aug;40(8):1109.

PMID:
28859766
47.

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Ejaz R, Lionel AC, Blaser S, Walker S, Scherer SW, Babul-Hirji R, Marshall CR, Stavropoulos DJ, Chitayat D.

Am J Med Genet A. 2017 Oct;173(10):2725-2730. doi: 10.1002/ajmg.a.38352. Epub 2017 Aug 25.

PMID:
28840640
48.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

49.

Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.

Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D.

Am J Med Genet A. 2017 Sep;173(9):2467-2471. doi: 10.1002/ajmg.a.38321. Epub 2017 Jul 25.

PMID:
28742278
50.

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. doi: 10.1016/j.ajhg.2017.04.004.

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