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Items: 1 to 50 of 170

1.

Annemarie Sommer memorial.

Hudgins L.

Am J Med Genet A. 2019 Sep;179(9):1689-1690. doi: 10.1002/ajmg.a.61287. Epub 2019 Jul 18. No abstract available.

PMID:
31321866
2.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Gazali LA, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0576-0. [Epub ahead of print]

PMID:
31263215
3.

Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomes.

Chock VY, Davis AS, Cho SH, Bax C, Fluharty E, Weigel N, Homeyer M, Hudgins L, Jones R, Rubesova E, Sylvester KG, Blumenfeld YJ, Hintz SR.

J Perinatol. 2019 Aug;39(8):1111-1117. doi: 10.1038/s41372-019-0410-1. Epub 2019 Jun 21.

PMID:
31227786
4.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L.

Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17.

PMID:
31207089
5.

Kabuki Syndrome.

Adam MP, Hudgins L, Hannibal M.

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.
2011 Sep 1 [updated 2019 Feb 28].

6.

Cornelia de Lange syndrome in diverse populations.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID.

Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6.

PMID:
30614194
7.

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Hudgins L.

Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18.

PMID:
30450842
8.

Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.

Chyzhyk V, Kozmic S, Brown AS, Hudgins LC, Starc TJ, Davila AD, Blevins TC, Diffenderfer MR, He L, Geller AS, Rush C, Hegele RA, Schaefer EJ.

J Clin Lipidol. 2019 Jan - Feb;13(1):89-99. doi: 10.1016/j.jacl.2018.09.007. Epub 2018 Sep 18.

PMID:
30352774
9.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.

PMID:
30245513
10.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

11.

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.

Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy HP, Raskin M, Stosic M, Uhlmann W, Wain KE, Currey E, Faucett WA.

Genet Med. 2019 Mar;21(3):727-735. doi: 10.1038/s41436-018-0093-6. Epub 2018 Jul 6.

12.

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.

13.

LpA-II:B:C:D:E: a new immunochemically-defined acute phase lipoprotein in humans.

Bagdade JD, Jilma B, Hudgins LC, Alaupovic P, McCurdy CE.

Lipids Health Dis. 2018 May 28;17(1):127. doi: 10.1186/s12944-018-0769-6.

14.

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

Chitty LS, Hudgins L, Norton ME.

Prenat Diagn. 2018 Feb;38(3):160-165. doi: 10.1002/pd.5216.

PMID:
29417608
15.

Prenatal treatment of ornithine transcarbamylase deficiency.

Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM.

Mol Genet Metab. 2018 Mar;123(3):297-300. doi: 10.1016/j.ymgme.2018.01.004. Epub 2018 Jan 16.

PMID:
29396029
16.

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Niedernhofer LJ, Oshima J.

Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17.

17.

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

Camunas-Soler J, Lee H, Hudgins L, Hintz SR, Blumenfeld YJ, El-Sayed YY, Quake SR.

Clin Chem. 2018 Feb;64(2):336-345. doi: 10.1373/clinchem.2017.278101. Epub 2017 Nov 2.

18.

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.

Am J Med Genet A. 2017 Dec;173(12):3221-3225. doi: 10.1002/ajmg.a.38415. Epub 2017 Sep 8.

19.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.

Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8.

20.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
21.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.

PMID:
28687708
22.

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Keppler-Noreuil KM, Martinez-Agosto JA, Hudgins L, Carey JC.

Am J Med Genet A. 2017 Aug;173(8):2007-2073. doi: 10.1002/ajmg.a.38229. Epub 2017 May 24.

PMID:
28544249
23.

A critical role for ChREBP-mediated FGF21 secretion in hepatic fructose metabolism.

Fisher FM, Kim M, Doridot L, Cunniff JC, Parker TS, Levine DM, Hellerstein MK, Hudgins LC, Maratos-Flier E, Herman MA.

Mol Metab. 2016 Nov 23;6(1):14-21. doi: 10.1016/j.molmet.2016.11.008. eCollection 2017 Jan.

24.

Young, healthy South Asians have enhanced lipogenic sensitivity to dietary sugar.

Hudgins LC, Hugo JL, Enayat S, Parker TS, Artis AS, Levine DM.

Clin Endocrinol (Oxf). 2017 Mar;86(3):361-366. doi: 10.1111/cen.13293. Epub 2017 Jan 16.

PMID:
27988942
25.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

26.

US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry.

Ahmad ZS, Andersen RL, Andersen LH, O'Brien EC, Kindt I, Shrader P, Vasandani C, Newman CB, deGoma EM, Baum SJ, Hemphill LC, Hudgins LC, Ahmed CD, Kullo IJ, Gidding SS, Duffy D, Neal W, Wilemon K, Roe MT, Rader DJ, Ballantyne CM, Linton MF, Duell PB, Shapiro MD, Moriarty PM, Knowles JW.

J Clin Lipidol. 2016 Sep-Oct;10(5):1223-9. doi: 10.1016/j.jacl.2016.07.011. Epub 2016 Aug 6.

27.

Effects of Liver Transplantation on Lipids and Cardiovascular Disease in Children With Homozygous Familial Hypercholesterolemia.

Martinez M, Brodlie S, Griesemer A, Kato T, Harren P, Gordon B, Parker T, Levine D, Tyberg T, Starc T, Cho I, Min J, Elmore K, Lobritto S, Hudgins LC.

Am J Cardiol. 2016 Aug 15;118(4):504-10. doi: 10.1016/j.amjcard.2016.05.042. Epub 2016 May 28.

PMID:
27365335
28.

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.

Blumenfeld YJ, Davis AS, Hintz SR, Milan K, Messner AH, Barth RA, Hudgins L, Chueh J, Homeyer M, Bernstein JA, Enns G, Atwal P, Manning M.

J Ultrasound Med. 2016 Jun;35(6):1353-8. doi: 10.7863/ultra.15.02050. Epub 2016 May 9.

PMID:
27162279
29.

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Gripp KW, Adam MP, Hudgins L, Carey JC.

Am J Med Genet A. 2016 Jul;170(7):1665-726. doi: 10.1002/ajmg.a.37600. Epub 2016 Apr 27.

PMID:
27119594
30.

Respiratory system involvement in Costello syndrome.

Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L.

Am J Med Genet A. 2016 Jul;170(7):1849-57. doi: 10.1002/ajmg.a.37655. Epub 2016 Apr 22.

31.

A Multifaceted Mentoring Program for Junior Faculty in Academic Pediatrics.

Chen MM, Sandborg CI, Hudgins L, Sanford R, Bachrach LK.

Teach Learn Med. 2016 Jul-Sep;28(3):320-8. doi: 10.1080/10401334.2016.1153476. Epub 2016 Apr 7.

32.

Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.

deGoma EM, Ahmad ZS, O'Brien EC, Kindt I, Shrader P, Newman CB, Pokharel Y, Baum SJ, Hemphill LC, Hudgins LC, Ahmed CD, Gidding SS, Duffy D, Neal W, Wilemon K, Roe MT, Rader DJ, Ballantyne CM, Linton MF, Duell PB, Shapiro MD, Moriarty PM, Knowles JW.

Circ Cardiovasc Genet. 2016 Jun;9(3):240-9. doi: 10.1161/CIRCGENETICS.116.001381. Epub 2016 Mar 24.

33.

Patient preferences for prenatal testing of microdeletion and microduplication syndromes.

Calonico E, Blumenfeld YJ, Hudgins L, Taylor J.

Prenat Diagn. 2016 Mar;36(3):244-51. doi: 10.1002/pd.4760. Epub 2016 Jan 27.

PMID:
26687911
34.

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Atwal PS, Blease S, Braxton A, Graves J, He W, Person R, Slattery L, Bernstein JA, Hudgins L.

Am J Med Genet A. 2016 Apr;170A(4):891-5. doi: 10.1002/ajmg.a.37491. Epub 2015 Dec 21.

PMID:
26686323
35.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Baer RJ, Flessel MC, Jelliffe-Pawlowski LL, Goldman S, Hudgins L, Hull AD, Norton ME, Currier RJ.

Obstet Gynecol. 2015 Oct;126(4):753-9. doi: 10.1097/AOG.0000000000001040.

PMID:
26348180
36.

Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions.

Milner LC, Garrison NA, Cho MK, Altman RB, Hudgins L, Galli SJ, Lowe HJ, Schrijver I, Magnus DC.

Per Med. 2015 Jun;12(3):269-282. doi: 10.2217/pme.14.88.

PMID:
29771644
37.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F.

Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.

38.

Non-invasive assessment of endothelial function in children with obesity and lipid disorders.

Hudgins LC, Annavajjhala V, Kovanlikaya A, Frank MD, Solomon A, Parker TS, Cooper RS.

Cardiol Young. 2016 Mar;26(3):532-8. doi: 10.1017/S1047951115000657. Epub 2015 May 5.

39.

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women.

Farrell R, Hawkins A, Barragan D, Hudgins L, Taylor J.

Prenat Diagn. 2015 Aug;35(8):748-53. doi: 10.1002/pd.4599. Epub 2015 May 21.

PMID:
25846645
40.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF.

Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.

41.

Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

Hopper RK, Feinstein JA, Manning MA, Benitz W, Hudgins L.

Am J Med Genet A. 2015 Apr;167A(4):882-5. doi: 10.1002/ajmg.a.37024. Epub 2015 Feb 23.

PMID:
25706034
42.

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.

Brennan ML, Adam MP, Seaver LH, Myers A, Schelley S, Zadeh N, Hudgins L, Bernstein JA.

Am J Med Genet A. 2015 Jan;167A(1):142-6. doi: 10.1002/ajmg.a.36831. Epub 2014 Nov 17.

PMID:
25402239
43.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E.

J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10.

44.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.

Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Review.

PMID:
25250515
45.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies.

Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L.

Am J Med Genet A. 2014 Aug;164A(8):2097-103. doi: 10.1002/ajmg.a.36598. Epub 2014 May 6. Review.

PMID:
24800990
46.

Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.

O'Brien EC, Roe MT, Fraulo ES, Peterson ED, Ballantyne CM, Genest J, Gidding SS, Hammond E, Hemphill LC, Hudgins LC, Kindt I, Moriarty PM, Ross J, Underberg JA, Watson K, Pickhardt D, Rader DJ, Wilemon K, Knowles JW.

Am Heart J. 2014 Mar;167(3):342-349.e17. doi: 10.1016/j.ahj.2013.12.008. Epub 2013 Dec 21.

PMID:
24576518
47.

9q22.3 Microdeletion.

Muller E II, Hudgins L.

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.
2011 Aug 18 [updated 2014 Feb 20].

48.

Clinical whole-exome sequencing: are we there yet?

Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L.

Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13.

PMID:
24525916
49.

Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing.

Kellogg G, Slattery L, Hudgins L, Ormond K.

J Genet Couns. 2014 Oct;23(5):805-13. doi: 10.1007/s10897-014-9694-7. Epub 2014 Feb 1.

50.

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.

Gu W, Koh W, Blumenfeld YJ, El-Sayed YY, Hudgins L, Hintz SR, Quake SR.

Genet Med. 2014 Jul;16(7):564-7. doi: 10.1038/gim.2013.194. Epub 2014 Jan 9.

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