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Items: 1 to 20 of 54

1.

Detection of iron deficiency in children with Down syndrome.

Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS.

Genet Med. 2019 Aug 16. doi: 10.1038/s41436-019-0637-4. [Epub ahead of print]

PMID:
31417190
2.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K.

Am J Med Genet A. 2019 Aug 9. doi: 10.1002/ajmg.a.61321. [Epub ahead of print]

PMID:
31400068
3.

Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome.

Tarui T, Im K, Madan N, Madankumar R, Skotko BG, Schwartz A, Sharr C, Ralston SJ, Kitano R, Akiyama S, Yun HJ, Grant E, Bianchi DW.

Cereb Cortex. 2019 Jul 2. pii: bhz094. doi: 10.1093/cercor/bhz094. [Epub ahead of print]

PMID:
31264685
4.

Response to Johansen Taber et al.

Skotko BG, Allyse MA, Bajaj K, Best RG, Leach M, Meredith S, Michie M, Stoll K.

Genet Med. 2019 Jun 3. doi: 10.1038/s41436-019-0556-4. [Epub ahead of print] No abstract available.

PMID:
31155614
5.

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

Skotko BG, Allyse MA, Bajaj K, Best RG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg AR.

Genet Med. 2019 Apr 3. doi: 10.1038/s41436-019-0485-2. [Epub ahead of print]

PMID:
30940924
6.

Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 Jan 14. doi: 10.1038/s41436-018-0413-x. [Epub ahead of print]

PMID:
30643220
7.

Comment on "The price of abandoning diagnostics testing for cell-free fetal DNA screening".

Skotko BG, Samuelson D, Kageleiry A, Lefebvre P, Hellstern M, Campbell J.

Prenat Diagn. 2019 Jan;39(2):130. doi: 10.1002/pd.5331. Epub 2019 Jan 13. No abstract available.

PMID:
30637775
8.

Parents' perceptions of functional abilities in people with Down syndrome.

de Graaf G, Levine SP, Goldstein R, Skotko BG.

Am J Med Genet A. 2019 Feb;179(2):161-176. doi: 10.1002/ajmg.a.61004. Epub 2018 Dec 24.

PMID:
30582784
9.

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.

Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM.

Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Erratum in: Genet Med. 2019 Jan 14;:.

PMID:
30245510
10.

Use of Electronic Health Record Integration for Down Syndrome Guidelines.

Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG.

Pediatrics. 2018 Sep;142(3). pii: e20174119. doi: 10.1542/peds.2017-4119.

PMID:
30154119
11.

Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea.

Diercks GR, Wentland C, Keamy D, Kinane TB, Skotko B, de Guzman V, Grealish E, Dobrowski J, Soose R, Hartnick CJ.

JAMA Otolaryngol Head Neck Surg. 2018 Jan 1;144(1):37-42. doi: 10.1001/jamaoto.2017.1871.

12.

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Hart SJ, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez MC, Skotko BG, Ochoa-Lubinoff C, Liogier D'Ardhuy X, Kishnani PS, Spiridigliozzi GA.

Am J Med Genet A. 2017 Nov;173(11):3029-3041. doi: 10.1002/ajmg.a.38465. Epub 2017 Sep 8. Review.

PMID:
28884975
13.

Estimation of live birth and population prevalence of Down syndrome in nine U.S. states.

de Graaf G, Buckley F, Dever J, Skotko BG.

Am J Med Genet A. 2017 Oct;173(10):2710-2719. doi: 10.1002/ajmg.a.38402. Epub 2017 Aug 16.

PMID:
28816027
14.

The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea.

Jayaratne YSN, Elsharkawi I, Macklin EA, Voelz L, Weintraub G, Rosen D, Skotko BG.

Am J Med Genet A. 2017 Nov;173(11):3013-3021. doi: 10.1002/ajmg.a.38399. Epub 2017 Aug 17.

15.

Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.

Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG.

Sleep Med. 2017 Jun;34:84-89. doi: 10.1016/j.sleep.2017.02.005. Epub 2017 Mar 7.

16.

A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia.

Rafii MS, Skotko BG, McDonough ME, Pulsifer M, Evans C, Doran E, Muranevici G, Kesslak P, Abushakra S, Lott IT; ELND005-DS Study Group.

J Alzheimers Dis. 2017;58(2):401-411. doi: 10.3233/JAD-160965.

17.

Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347."

Skotko BG, Levine SP, Goldstein R.

Am J Med Genet A. 2017 May;173(5):1453. doi: 10.1002/ajmg.a.38185. Epub 2017 Feb 16. No abstract available.

PMID:
28421701
18.

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

Allyse M, Aypar U, Bonhomme N, Darilek S, Dougherty M, Farrell R, Grody W, Highsmith WE, Michie M, Nunes M, Otto L, Pabst R, Palomaki G, Runke C, Sharp RR, Skotko B, Stoll K, Wick M.

J Womens Health (Larchmt). 2017 Jul;26(7):755-761. doi: 10.1089/jwh.2016.6098. Epub 2017 Apr 7.

PMID:
28388340
19.

Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.

Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG.

Am J Med Genet A. 2017 Jun;173(6):1539-1545. doi: 10.1002/ajmg.a.38219. Epub 2017 Mar 23.

PMID:
28332275
20.

A predictive model for obstructive sleep apnea and Down syndrome.

Skotko BG, Macklin EA, Muselli M, Voelz L, McDonough ME, Davidson E, Allareddy V, Jayaratne YS, Bruun R, Ching N, Weintraub G, Gozal D, Rosen D.

Am J Med Genet A. 2017 Apr;173(4):889-896. doi: 10.1002/ajmg.a.38137. Epub 2017 Jan 26.

PMID:
28124477

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