Neurogenetics & Neurogenomics Research

A Randomized, Double-blind, Placebo-controlled, Multinational, Multicenter study with open-label treatment extension to assess the effect of Min-102 on the progression of adrenomyeloneuropathy in male patients with x-linked adrenoleukodystrophy
PI: Jacinda Sampson, MD
NCT03231878
Study Status: Closed to Enrollment
Research Coordinator: Lila Perrone
Contact: Perronel@stanford.edu

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. PMID: 33600043; PMCID: PMC8248058.

Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide. Ruzhnikov MRZ, Brimble E, Hickey RE; Leukodystrophy Care Network.  Pediatr Rev. 2021 Mar;42(3):133-146. doi: 10.1542/pir.2019-0184. PMID: 33648992.

Expanding the molecular and clinical phenotypes of FUT8-CDG. Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH.  J Inherit Metab Dis. 2020 Jul;43(4):871-879. doi: 10.1002/jimd.12221. Epub 2020 Feb 23. PMID: 32049367; PMCID: PMC7359201.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM.  Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. PMID: 30905399; PMCID: PMC6451695.

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder. Brimble E, Lee-Messer C, Nagy PL, Propst J, Ruzhnikov MRZ.  Mol Syndromol. 2019 Jan;9(6):295-299. doi: 10.1159/000492706. Epub 2018 Aug 28. PMID: 30800045; PMCID: PMC6381894.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.  Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. Erratum for: Am J Hum Genet. 2019 Jan 3;104(1):139-156. PMID: 30735662; PMCID: PMC6369538.

A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata. Brimble E, Pacione M, Farrelly E, Stevenson DA, Ruzhnikov MRZ. Clin Dysmorphol. 2018 Oct;27(4):151-153. doi: 10.1097/MCD.0000000000000231. PMID: 29912012.

Delineating the epilepsy phenotype of NGLY1 deficiency. Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11. PMID: 35243670.

Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy. Tise CG, Morales JA, Lee AS, Velez-Bartolomei F, Floyd BJ, Levy RJ, Cusmano-Ozog KP, Feigenbaum AS, Ruzhnikov MRZ, Lee CU, Enns GM.  Am J Med Genet A. 2021 Jun;185(6):1848-1853. doi: 10.1002/ajmg.a.62160. Epub 2021 Mar 8. PMID: 33683010.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Acharya A, Kavus H, Dunn P, Nasir A, Folk L, Withrow K, Wentzensen IM, Ruzhnikov MRZ, Fallot C, Smol T, Rama M, Brown K, Whalen S, Ziegler A, Barth M, Chassevent A, Smith-Hicks C, Afenjar A, Courtin T, Heide S, Font-Montgomery E, Heid C, Hamm JA, Love DR, Thabet F, Misra VK, Cunningham M, Leal SM, Jarvela I, Normand EA, Zou F, Helal M, Keren B, Torti E, Chung WK, Schrauwen I.  J Med Genet. 2022 Jul;59(7):669-677. doi: 10.1136/jmedgenet-2021-107871. Epub 2021 Jul 28. PMID: 34321324.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS.  Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. PMID: 34345025; PMCID: PMC8553606.

Variable clinical severity in TANGO2 deficiency: Case series and literature review. Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C.  Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. PMID: 34668327.

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations. Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, Pytel P, Ferns M.  Muscle Nerve. 2021 Aug;64(2):219-224. doi: 10.1002/mus.27332. Epub 2021 Jun 12. PMID: 34037996.

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.  J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304. PMID: 29614695; PMCID: PMC6004919.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB.  Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. PMID: 19937601; PMCID: PMC3404892.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363. PMID: 34291734; PMCID: PMC8410042.

Consensus-based care recommendations for adults with myotonic dystrophy type 1. Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S.  Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. PMID: 30588381; PMCID: PMC6294540.

Transcriptome alterations in myotonic dystrophy frontal cortex. Otero BA, Poukalov K, Hildebrandt RP, Thornton CA, Jinnai K, Fujimura H, Kimura T, Hagerman KA, Sampson JB, Day JW, Wang ET.  Cell Rep. 2021 Jan 19;34(3):108634. doi: 10.1016/j.celrep.2020.108634. PMID: 33472074; PMCID: PMC9272850.

Nusinersen Treatment in Adults With Spinal Muscular Atrophy. Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW.  Neurol Clin Pract. 2021 Jun;11(3):e317-e327. doi: 10.1212/CPJ.0000000000001033. PMID: 34476123; PMCID: PMC8382360.

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Mol Genet Metab. 2020 May;130(1):58-64. doi: 10.1016/j.ymgme.2020.03.001. Epub 2020 Mar 6. PMID: 32173240; PMCID: PMC8399858.

Cognitive Impairment Analysis of Myotonic Dystrophy via Weakly Supervised Classification of Neuropsychological Features. Kamali T, Deutsch GK, Hagerman KA, Parker D, Day JW, Sampson JB, Wozniak JR.  Annu Int Conf IEEE Eng Med Biol Soc. 2022 Jul;2022:4377-4382. doi: 10.1109/EMBC48229.2022.9871626. PMID: 36086274.

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F; PTC124-GD-007-DMD Study Group; ACT DMD Study Group; Clinical Evaluator Training Groups.  J Comp Eff Res. 2020 Oct;9(14):973-984. doi: 10.2217/cer-2020-0095. Epub 2020 Aug 27. PMID: 32851872.

Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks. Kamali T, Hagerman KA, Day JW, Sampson J, Lim KO, Mueller BA, Wozniak J.  Annu Int Conf IEEE Eng Med Biol Soc. 2020 Jul;2020:1714-1717. doi: 10.1109/EMBC44109.2020.9176455. PMID: 33018327.