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Items: 1 to 50 of 135

1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.

PMID:
31595648
2.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network, McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.

Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.

PMID:
31585109
3.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

4.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
5.

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A.

Mol Genet Genomic Med. 2019 Nov;7(11):e969. doi: 10.1002/mgg3.969. Epub 2019 Sep 7.

6.

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
7.

Prenatal evaluation of the Sakoda complex.

Nagaraj UD, Moudgal R, Hopkin RJ, Venkatesan C, Kline-Fath BM.

Pediatr Radiol. 2019 Dec;49(13):1843-1847. doi: 10.1007/s00247-019-04491-5. Epub 2019 Aug 5.

PMID:
31384970
8.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C.

Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26.

9.

Fetal brain MRI findings and neonatal outcome of common diagnosis at a tertiary care center.

Arroyo MS, Hopkin RJ, Nagaraj UD, Kline-Fath B, Venkatesan C.

J Perinatol. 2019 Aug;39(8):1072-1077. doi: 10.1038/s41372-019-0407-9. Epub 2019 Jun 18.

PMID:
31213636
10.

Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Lukacs M, Gilley J, Zhu Y, Orsomando G, Angeletti C, Liu J, Yang X, Park J, Hopkin RJ, Coleman MP, Zhai RG, Stottmann RW.

Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25.

PMID:
31136762
11.

Genomic education for the next generation of health-care providers.

Campion M, Goldgar C, Hopkin RJ, Prows CA, Dasgupta S.

Genet Med. 2019 Nov;21(11):2422-2430. doi: 10.1038/s41436-019-0548-4. Epub 2019 May 21. Review.

PMID:
31110330
12.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.

Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.

13.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16.

Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P.

Clin Epigenetics. 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8.

14.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. No abstract available.

PMID:
30912852
15.

A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.

Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ.

Am J Med Genet A. 2019 Jun;179(6):1010-1014. doi: 10.1002/ajmg.a.61018. Epub 2019 Mar 20.

PMID:
30895720
16.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM.

Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4.

PMID:
30719864
17.

CNTNAP1-Related Congenital Hypomyelinating Neuropathy.

Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ.

Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28.

PMID:
30686628
18.

Congenital lumbar hernia-A feature of diabetic embryopathy?

Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA.

Am J Med Genet A. 2018 Nov;176(11):2243-2249. doi: 10.1002/ajmg.a.40381. Epub 2018 Oct 1.

PMID:
30276953
19.

Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease.

Powell AW, Jefferies JL, Hopkin RJ, Mays WA, Goa Z, Chin C.

Am J Med Genet A. 2018 Sep;176(9):1852-1857. doi: 10.1002/ajmg.a.40369. Epub 2018 Sep 4.

PMID:
30178908
20.

Comparison of Native T1, Strain, and Traditional Measures of Cardiovascular Structure and Function by Cardiac Magnetic Resonance Imaging in Patients With Anderson-Fabry Disease.

Wilson HC, Ambach S, Madueme PC, Khoury PR, Hopkin RJ, Jefferies JL.

Am J Cardiol. 2018 Sep 15;122(6):1074-1078. doi: 10.1016/j.amjcard.2018.06.007. Epub 2018 Jun 22.

PMID:
30075896
21.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM.

Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8.

22.

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Lombardo RC, Porollo A, Cnota JF, Hopkin RJ.

Genet Med. 2018 Dec;20(12):1538-1543. doi: 10.1038/gim.2018.34. Epub 2018 Mar 15.

PMID:
29543228
23.

Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.

24.

Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Lesmana H, Dyer L, Li X, Denton J, Griffiths J, Chonat S, Seu KG, Heeney MM, Zhang K, Hopkin RJ, Kalfa TA.

Hum Mutat. 2018 Mar;39(3):389-393. doi: 10.1002/humu.23392. Epub 2018 Jan 11.

25.

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL.

Tex Heart Inst J. 2017 Dec 19;44(6):420-423. doi: 10.14503/THIJ-16-6121. eCollection 2017 Dec.

26.

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM.

Am J Med Genet A. 2017 Nov;173(11):3075-3081. doi: 10.1002/ajmg.a.38382. Epub 2017 Sep 28.

PMID:
28960803
27.

Left ventricular dysfunction in a patient with Angelman syndrome.

Powell AW, Taylor MD, Hopkin RJ, Sublett J, Jefferies JL.

Clin Dysmorphol. 2018 Jan;27(1):21-22. doi: 10.1097/MCD.0000000000000203. No abstract available.

PMID:
28877039
28.

Cytochrome P450 Oxidoreductase Deficiency.

Idkowiak J, Cragun D, Hopkin RJ, Arlt W.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2005 Sep 8 [updated 2017 Aug 3].

29.

The genetic landscape of familial congenital hydrocephalus.

Shaheen R, Sebai MA, Patel N, Ewida N, Kurdi W, Altweijri I, Sogaty S, Almardawi E, Seidahmed MZ, Alnemri A, Madirevula S, Ibrahim N, Abdulwahab F, Hashem M, Al-Sheddi T, Alomar R, Alobeid E, Sallout B, AlBaqawi B, AlAali W, Ajaji N, Lesmana H, Hopkin RJ, Dupuis L, Mendoza-Londono R, Al Rukban H, Yoon G, Faqeih E, Alkuraya FS.

Ann Neurol. 2017 Jun;81(6):890-897. doi: 10.1002/ana.24964.

PMID:
28556411
30.

Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease.

Wilson HC, Hopkin RJ, Madueme PC, Czosek RJ, Bailey LA, Taylor MD, Jefferies JL.

Am J Cardiol. 2017 Jul 15;120(2):251-255. doi: 10.1016/j.amjcard.2017.04.016. Epub 2017 Apr 27.

PMID:
28550929
31.

Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ.

JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.

32.

Variable phenotype in a novel mutation in PHOX2B.

Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ.

Am J Med Genet A. 2017 Jun;173(6):1705-1709. doi: 10.1002/ajmg.a.38218. Epub 2017 Apr 19.

PMID:
28422456
33.

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.

34.

Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR.

Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.

35.

Adherence to Symptom-Based Care Guidelines for Down Syndrome.

Santoro SL, Yin H, Hopkin RJ.

Clin Pediatr (Phila). 2017 Feb;56(2):150-156. doi: 10.1177/0009922816652416. Epub 2016 Jul 19.

PMID:
27260508
36.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM.

Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.

37.

Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.

Hufnagel SB, Martin LJ, Cassedy A, Hopkin RJ, Antommaria AH.

Am J Med Genet A. 2016 Aug;170(8):2083-8. doi: 10.1002/ajmg.a.37730. Epub 2016 May 5.

PMID:
27149544
38.

Contributions to Racial Disparity in Mortality among Children with Down Syndrome.

Santoro SL, Esbensen AJ, Hopkin RJ, Hendershot L, Hickey F, Patterson B.

J Pediatr. 2016 Jul;174:240-246.e1. doi: 10.1016/j.jpeds.2016.03.023. Epub 2016 Apr 7.

PMID:
27063805
39.

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG.

J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.

40.

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M.

Hum Mol Genet. 2016 May 15;25(10):1912-1922. Epub 2016 Feb 29.

41.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study.

Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3.

PMID:
26842493
42.

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ.

J Pediatr. 2016 Apr;171:262-8.e1-2. doi: 10.1016/j.jpeds.2015.12.026. Epub 2016 Jan 29.

PMID:
26831529
43.

The management and treatment of children with Fabry disease: A United States-based perspective.

Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel.

Mol Genet Metab. 2016 Feb;117(2):104-13. doi: 10.1016/j.ymgme.2015.10.007. Epub 2015 Oct 23. Review.

PMID:
26546059
44.

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK.

J Pediatr. 2015 Oct;167(4):851-856.e1. doi: 10.1016/j.jpeds.2015.07.001. Epub 2015 Jul 29.

PMID:
26233602
45.

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA.

J Allergy Clin Immunol. 2016 Jan;137(1):179-187.e10. doi: 10.1016/j.jaci.2015.06.002. Epub 2015 Jul 17.

46.

Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences.

Santoro SL, Martin LJ, Hopkin RJ.

Clin Pediatr (Phila). 2016 May;55(5):421-7. doi: 10.1177/0009922815589911. Epub 2015 Jun 17.

PMID:
26084538
47.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

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