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Items: 1 to 50 of 84

1.

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C.

Neurol Genet. 2018 Jun 8;4(3):e240. doi: 10.1212/NXG.0000000000000240. eCollection 2018 Jun.

2.

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV.

BMC Med Genet. 2018 May 16;19(1):80. doi: 10.1186/s12881-018-0597-6.

3.

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV.

Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24.

PMID:
29691655
4.

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.

Muscle Nerve. 2018 Mar 30. doi: 10.1002/mus.26135. [Epub ahead of print]

PMID:
29603301
5.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. No abstract available.

PMID:
29447355
6.

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8.

7.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Harper F, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435.

8.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.

PMID:
29146704
9.

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548.

PMID:
29136352
10.

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.

Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.

11.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.

PMID:
29112083
12.

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Erratum in: Nat Commun. 2018 Jan 18;9(1):337.

13.

Hermansky-Pudlak Syndrome.

Huizing M, Malicdan MCV, Gochuico BR, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jul 24 [updated 2017 Oct 26].

14.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20.

PMID:
29052317
15.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.

Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.

PMID:
29044765
16.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Svingen L, Goheen M, Godfrey R, Wahl C, Baker EH, Gahl WA, Malicdan MCV, Toro C.

Dev Med Child Neurol. 2017 Dec;59(12):1307-1311. doi: 10.1111/dmcn.13509. Epub 2017 Aug 1.

PMID:
28762473
17.

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Garland J, Stephen J, Class B, Gruber A, Ciccone C, Poliak A, Hayes CP, Singhal V, Slota C, Perreault J, Gavrilova R, Shrader JA, Chittiboina P, Joe G, Heiss J, Gahl WA, Huizing M, Carrillo N, Malicdan MCV.

Mol Genet Genomic Med. 2017 Jun 14;5(4):410-417. doi: 10.1002/mgg3.300. eCollection 2017 Jul.

18.

Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.

Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A.

Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14.

PMID:
28675565
19.

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.

Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N.

Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.

20.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.

Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, Godfrey R, Groden C, Hsieh CK, Fischer R, Golas GA, Guzman J, Huang Y, Kane MS, Lee E, Li C, Links AE, Maduro V, Malicdan MCV, Malik FS, Nehrebecky M, Park J, Pemberton P, Schaffer K, Simeonov D, Sincan M, Smedley D, Valivullah Z, Wahl C, Washington N, Wolfe LA, Xu K, Zhu Y, Gahl WA, Tifft CJ, Toro C, Adams DR, He M, Robinson PN, Haendel MA, Zhai RG, Boerkoel CF.

Front Med (Lausanne). 2017 May 26;4:62. doi: 10.3389/fmed.2017.00062. eCollection 2017.

21.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Barel O, Malicdan MCV, Ben-Zeev B, Kandel J, Pri-Chen H, Stephen J, Castro IG, Metz J, Atawa O, Moshkovitz S, Ganelin E, Barshack I, Polak-Charcon S, Nass D, Marek-Yagel D, Amariglio N, Shalva N, Vilboux T, Ferreira C, Pode-Shakked B, Heimer G, Hoffmann C, Yardeni T, Nissenkorn A, Avivi C, Eyal E, Kol N, Glick Saar E, Wallace DC, Gahl WA, Rechavi G, Schrader M, Eckmann DM, Anikster Y.

Brain. 2017 Mar 1;140(3):568-581. doi: 10.1093/brain/awx002.

PMID:
28364549
22.

Abnormal glycosylation in Joubert syndrome type 10.

Kane MS, Davids M, Bond MR, Adams CJ, Grout ME, Phelps IG, O'Day DR, Dempsey JC, Li X, Golas G, Vezina G, Gunay-Aygun M, Hanover JA, Doherty D, He M, Malicdan MCV, Gahl WA, Boerkoel CF.

Cilia. 2017 Mar 23;6:2. doi: 10.1186/s13630-017-0048-6. eCollection 2017.

23.

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC.

PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017.

24.

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Bryan MM, Tolman NJ, Simon KL, Huizing M, Hufnagel RB, Brooks BP, Speransky V, Mullikin JC, Gahl WA, Malicdan MCV, Gochuico BR.

Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.

25.

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, Malicdan MC, Lin S.

PLoS Genet. 2017 Feb 27;13(2):e1006624. doi: 10.1371/journal.pgen.1006624. eCollection 2017 Feb.

26.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M.

Hum Genet. 2017 Apr;136(4):399-408. doi: 10.1007/s00439-017-1765-z. Epub 2017 Feb 20.

27.

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM.

Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17.

28.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Malicdan MC, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C.

Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622.

PMID:
28193763
29.

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

Zhang Y, Huang H, Zhao G, Yokoyama T, Vega H, Huang Y, Sood R, Bishop K, Maduro V, Accardi J, Toro C, Boerkoel CF, Lyons K, Gahl WA, Duan X, Malicdan MC, Lin S.

PLoS Genet. 2017 Feb 3;13(2):e1006481. doi: 10.1371/journal.pgen.1006481. eCollection 2017 Feb. Erratum in: PLoS Genet. 2017 Feb 27;13(2):e1006624.

30.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M.

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.

31.

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M.

Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26.

PMID:
28125082
32.

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H.

Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan.

33.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Steinbach PJ, Gahl WA, Gunay-Aygun M.

Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4.

PMID:
28052552
34.

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.

Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.

EBioMedicine. 2017 Feb;15:193-202. doi: 10.1016/j.ebiom.2016.12.011. Epub 2016 Dec 23.

35.

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA.

Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.

36.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV.

Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.

37.

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

O'Brien KJ, Lozier J, Cullinane AR, Osorio B, Nghiem K, Speransky V, Zein WM, Mullikin JC, Neff AT, Simon KL, Malicdan MC, Gahl WA, Young LR, Gochuico BR.

Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.

38.

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC.

Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.

PMID:
27573165
39.

Phenotypic evolution of UNC80 loss of function.

Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF.

Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11.

40.

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree.

Mehrpour M, Gohari F, Dizaji MZ, Ahani A, Malicdan MC, Behnam B.

J Mol Genet Med. 2016 Jun;10(2). pii: 222. Epub 2016 Jun 19.

41.

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D; NISC Comparative Sequencing Program, Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M.

Hum Mutat. 2016 Nov;37(11):1144-1148. doi: 10.1002/humu.23054. Epub 2016 Aug 21.

PMID:
27449316
42.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.

Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF.

Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6.

43.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program, Huizing M, Toro C, Gahl WA, Gunay-Aygun M.

J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.

PMID:
27095636
44.

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.

Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MC, Weiss B, Gahl WA, Anikster Y.

Eur J Hum Genet. 2016 Aug;24(9):1268-73. doi: 10.1038/ejhg.2016.5. Epub 2016 Feb 17.

45.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.

J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.

46.

Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells.

Paull D, Sevilla A, Zhou H, Hahn AK, Kim H, Napolitano C, Tsankov A, Shang L, Krumholz K, Jagadeesan P, Woodard CM, Sun B, Vilboux T, Zimmer M, Forero E, Moroziewicz DN, Martinez H, Malicdan MC, Weiss KA, Vensand LB, Dusenberry CR, Polus H, Sy KT, Kahler DJ, Gahl WA, Solomon SL, Chang S, Meissner A, Eggan K, Noggle SA.

Nat Methods. 2015 Sep;12(9):885-92. doi: 10.1038/nmeth.3507. Epub 2015 Aug 3.

PMID:
26237226
47.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25.

48.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.

PMID:
25943031
49.

Central Core Disease.

Malicdan MCV, Nishino I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 May 16 [updated 2014 Dec 4].

50.

Atypical presentation of GNE myopathy with asymmetric hand weakness.

de Dios JK, Shrader JA, Joe GO, McClean JC, Williams K, Evers R, Malicdan MC, Ciccone C, Mankodi A, Huizing M, McKew JC, Bluemke DA, Gahl WA, Carrillo-Carrasco N.

Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7.

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