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Items: 1 to 50 of 60

1.

Further delineation of METTL23-associated intellectual disability.

Almannai M, Obaid O, Faqeih E, Alasmari A, Samman MM, Pinz H, Braddock SR, Alkuraya FS.

Am J Med Genet A. 2020 Feb 18. doi: 10.1002/ajmg.a.61503. [Epub ahead of print]

PMID:
32067349
2.

Health Care Supervision for Children With Williams Syndrome.

Morris CA, Braddock SR; COUNCIL ON GENETICS.

Pediatrics. 2020 Feb;145(2). pii: e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21.

PMID:
31964759
3.

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17.

PMID:
31736240
4.

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study.

Chambers CD, Johnson DL, Xu R, Luo Y, Lopez-Jimenez J, Adam MP, Braddock SR, Robinson LK, Vaux K, Lyons Jones K; OTIS Collaborative Research Group.

PLoS One. 2019 Oct 18;14(10):e0223603. doi: 10.1371/journal.pone.0223603. eCollection 2019.

5.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

6.

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

Burton BK, Hoganson GE, Fleischer J, Grange DK, Braddock SR, Hickey R, Hitchins L, Groepper D, Christensen KM, Kirby A, Moody C, Shryock H, Ashbaugh L, Shao R, Basheeruddin K.

J Pediatr. 2019 Nov;214:165-167.e1. doi: 10.1016/j.jpeds.2019.07.053. Epub 2019 Aug 30.

PMID:
31477379
7.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
8.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

9.

Retinoic acid receptor beta variant-related colonic hypoganglionosis.

Foster KJ, Zhang SQ, Braddock SR, Torti E, Chikarmane R, Sotelo-Avila C, Greenspon J.

Am J Med Genet A. 2019 May;179(5):817-821. doi: 10.1002/ajmg.a.61078. Epub 2019 Feb 20.

PMID:
30790422
10.

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.

Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network, Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ.

Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12.

PMID:
30740830
11.

Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.

Lam JK, Braddock SR, Huddleston CB, Knutsen AP.

Ann Allergy Asthma Immunol. 2019 Feb;122(2):222-223. doi: 10.1016/j.anai.2018.10.020. Epub 2018 Oct 27. No abstract available.

PMID:
30712578
12.

Solid tumor screening recommendations in trisomy 18.

Farmakis SG, Barnes AM, Carey JC, Braddock SR.

Am J Med Genet A. 2019 Mar;179(3):455-466. doi: 10.1002/ajmg.a.61029. Epub 2019 Jan 13.

PMID:
30637956
13.

Cohen Syndrome: Review of the Literature.

Rodrigues JM, Fernandes HD, Caruthers C, Braddock SR, Knutsen AP.

Cureus. 2018 Sep 18;10(9):e3330. doi: 10.7759/cureus.3330. Review.

14.

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.

Pinz H, Pyle LC, Li D, Izumi K, Skraban C, Tarpinian J, Braddock SR, Telegrafi A, Monaghan KG, Zackai E, Bhoj EJ.

Am J Med Genet A. 2018 Apr;176(4):969-972. doi: 10.1002/ajmg.a.38620. Epub 2018 Feb 15.

15.

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G.

J Pediatr. 2017 Nov;190:130-135. doi: 10.1016/j.jpeds.2017.06.048. Epub 2017 Jul 17.

PMID:
28728811
16.

Discordant Aortic Valve Morphology in Monozygotic Twins: A Clinical Case Series.

Hui DS, Bonow RO, Stolker JM, Braddock SR, Lee R.

JAMA Cardiol. 2016 Dec 1;1(9):1043-1047. doi: 10.1001/jamacardio.2016.2522.

PMID:
27579569
17.

Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC.

Am J Med Genet A. 2016 Oct;170(10):2580-6. doi: 10.1002/ajmg.a.37870. Epub 2016 Aug 23.

PMID:
27549381
18.

Procedures in the 1st year of life for children with trisomy 13 and trisomy 18, a 25-year, single-center review.

Josephsen JB, Armbrecht ES, Braddock SR, Cibulskis CC.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):264-71. doi: 10.1002/ajmg.c.31525. Epub 2016 Aug 21.

PMID:
27545023
19.

Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys.

Wen JX, Feldenberg LR, Abraham E, Sadiq F, Christensen KM, Braddock SR.

J Pediatr. 2016 Aug;175:231-2. doi: 10.1016/j.jpeds.2016.05.019. Epub 2016 Jun 6.

PMID:
27283461
20.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM.

Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.

21.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.

J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.

PMID:
26185144
22.

35(th) Annual David W Smith Workshop on Malformations and Morphogenesis: abstracts of the 2014 annual meeting.

Braddock SR, Lipinski RJ, Williams MS, Carey JC.

Am J Med Genet A. 2015 Aug;167A(8):1685-740. doi: 10.1002/ajmg.a.37107. Epub 2015 May 22.

PMID:
26010070
23.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M.

Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.

24.

Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL.

Bieser S, Reis M, Guzman M, Gauvain K, Elbabaa S, Braddock SR, Abdel-Baki MS.

Am J Med Genet A. 2015 Apr;167A(4):878-81. doi: 10.1002/ajmg.a.37017. Epub 2015 Feb 23. Review.

PMID:
25705862
25.

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.

Batanian JR, Braddock SR, Christensen K, Knutsen AP.

Am J Med Genet A. 2014 Feb;164A(2):535-41. doi: 10.1002/ajmg.a.36305. Epub 2013 Dec 5.

PMID:
24311374
26.

Reported communication ability of persons with trisomy 18 and trisomy 13.

Liang CA, Braddock BA, Heithaus JL, Christensen KM, Braddock SR, Carey JC.

Dev Neurorehabil. 2015;18(5):322-9. doi: 10.3109/17518423.2013.847980. Epub 2013 Nov 1.

PMID:
24180637
27.

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

Torti EE, Braddock SR, Bernreuter K, Batanian JR.

Am J Med Genet A. 2013 Aug;161A(8):1992-8. doi: 10.1002/ajmg.a.35918.

PMID:
23894059
28.

Communication ability in persons with trisomy 18 and trisomy 13.

Braddock B, McDaniel J, Spragge S, Loncke F, Braddock SR, Carey JC.

Augment Altern Commun. 2012 Dec;28(4):266-77. doi: 10.3109/07434618.2012.706637.

PMID:
23256858
29.

Pregnancy outcome in women exposed to leflunomide before or during pregnancy.

Cassina M, Johnson DL, Robinson LK, Braddock SR, Xu R, Jimenez JL, Mirrasoul N, Salas E, Luo YJ, Jones KL, Chambers CD; Organization of Teratology Information Specialists Collaborative Research Group.

Arthritis Rheum. 2012 Jul;64(7):2085-94. doi: 10.1002/art.34419.

30.

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W.

J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7.

31.

Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.

Braddock SR, Ardinger HH, Yang CS, Paschal BM, Hall BD.

Am J Med Genet A. 2010 Jul;152A(7):1718-23. doi: 10.1002/ajmg.a.33468.

PMID:
20583180
32.

Birth outcomes in women who have taken leflunomide during pregnancy.

Chambers CD, Johnson DL, Robinson LK, Braddock SR, Xu R, Lopez-Jimenez J, Mirrasoul N, Salas E, Luo YJ, Jin S, Jones KL; Organization of Teratology Information Specialists Collaborative Research Group.

Arthritis Rheum. 2010 May;62(5):1494-503. doi: 10.1002/art.27358.

33.

An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.

Lipinski MJ, Lipinski SE, Kripalani S, Friesen LD, Uthlaut BS, Braddock SR.

Am J Med Genet A. 2009 Feb 15;149A(4):698-701. doi: 10.1002/ajmg.a.32687.

PMID:
19248182
34.

Development and validation of a measure of dysmorphology: useful for autism subgroup classification.

Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE.

Am J Med Genet A. 2008 May 1;146A(9):1101-16. doi: 10.1002/ajmg.a.32244. Erratum in: Am J Med Genet A. 2008 Oct 15;146A(20):2714. Bocian, Maureen E [added].

PMID:
18383511
35.

The face of Joubert syndrome: a study of dysmorphology and anthropometry.

Braddock SR, Henley KM, Maria BL.

Am J Med Genet A. 2007 Dec 15;143A(24):3235-42.

PMID:
18000967
36.

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR.

Am J Med Genet A. 2006 Sep 1;140A(17):1797-803.

PMID:
16906539
37.

Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE.

Am J Med Genet A. 2005 Jan 30;132A(3):265-72.

PMID:
15690370
38.

Potential modifier role of the R618Q variant of proalpha2(I)collagen in type I collagen fibrillogenesis: in vitro assembly analysis.

Vomund AN, Braddock SR, Krause GF, Phillips CL.

Mol Genet Metab. 2004 Jun;82(2):144-53.

PMID:
15172002
39.

Retinal hemorrhages in an 8-year-old child: an uncommon presentation of abusive injury.

Mierisch RF, Frasier LD, Braddock SR, Giangiacomo J, Berkenbosch JW.

Pediatr Emerg Care. 2004 Feb;20(2):118-20.

PMID:
14758311
41.

Perioperative care of the child with the Johanson-Blizzard syndrome.

Fichter CR, Johnson GA, Braddock SR, Tobias JD.

Paediatr Anaesth. 2003 Jan;13(1):72-5.

PMID:
12535044
42.

Bony orbital distances among the Filipino population.

Barone CM, Jimenez DF, Laskey A, Alcantara BG, Braddock SR.

J Craniofac Surg. 2002 Mar;13(2):258-61.

PMID:
12000883
43.

Anaesthetic implications of Nager syndrome.

Groeper K, Johnson JO, Braddock SR, Tobias JD.

Paediatr Anaesth. 2002 May;12(4):365-8.

PMID:
11982847
44.

Postmarketing surveillance for human teratogenicity: a model approach.

Chambers CD, Braddock SR, Briggs GG, Einarson A, Johnson YR, Miller RK, Polifka JE, Robinson LK, Stepanuk K, Lyons Jones K.

Teratology. 2001 Nov;64(5):252-61.

PMID:
11745831
45.

Establishment of normative data for orbital and nasal soft-tissue measurements among Filipino children.

Barone CM, Jimenez DF, Laskey AL, Braddock SR.

J Craniofac Surg. 2001 Sep;12(5):427-32; discussion 433. Erratum in: J Craniofac Surg 2002 Jan;13(1):191. Lasky AL [corrected to Laskey AL].

PMID:
11572246
46.

Septo-optic dysplasia as a manifestation of valproic acid embryopathy.

McMahon CL, Braddock SR.

Teratology. 2001 Aug;64(2):83-6.

PMID:
11460259
47.

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family.

Braddock SR, Henley KM, Potter KL, Nguyen HG, Huang TH.

Am J Med Genet. 2000 Jun 19;92(5):311-7.

PMID:
10861659
48.

Blepharoptosis and central nervous system abnormalities in combined valproate and hydantoin embryopathy.

Gigantelli JW, Braddock SR, Johnson LN.

Ophthalmic Plast Reconstr Surg. 2000 Jan;16(1):52-4.

PMID:
10674735
49.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM.

Am J Med Genet. 1999 Aug 27;85(5):438-46. Review.

PMID:
10405439
50.

Weaver syndrome: autosomal dominant inheritance of the disorder.

Proud VK, Braddock SR, Cook L, Weaver DD.

Am J Med Genet. 1998 Oct 2;79(4):305-10.

PMID:
9781912

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