Publications:

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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.

International Journal Of Neonatal Screening

Mikhalchuk, Kristina K; Shchagina, Olga O; Chukhrova, Alena A; Zabnenkova, Viktoria V; Chausova, Polina P; Ryadninskaya, Nina N; Vlodavets, Dmitry D; Kutsev, Sergei I SI; Polyakov, Alexander A

Publication Date: 2023-05-16

Variant appearance in text: SMN1: 840C>T

PubMed Link: 37218894

Variant Present in the following documents:

• Main text
• IJNS-09-00029.pdf

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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.

Plos One

Tesorero, Rafael R; Janda, Joachim J; Hörster, Friederike F; Feyh, Patrik P; Mütze, Ulrike U; Hauke, Jana J; Schwarz, Kathrin K; Kunz, Joachim B JB; Hoffmann, Georg F GF; Okun, Jürgen G JG

Publication Date: 2023

Variant appearance in text: SMA: 840C>T

PubMed Link: 36897914

Variant Present in the following documents:

• Main text
• pone.0283024.pdf

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SMN1: 840C>T; Phe280=

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Newborn screening and gene therapy in SMA: Challenges related to vaccinations.

Frontiers In Neurology

Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Jedrzejowska, Maria M; Gos, Monika M; Ogrodnik, Magdalena M; Wysocki, Jacek J; Czajka, Hanna H; Kuchar, Ernest E

Publication Date: 2022

Variant appearance in text: SMN1: 840C>T

PubMed Link: 36504644

Variant Present in the following documents:

• Main text
• fneur-13-890860.pdf

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Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy.

Biology

Pinto, Albano A; Cunha, Catarina C; Chaves, Raquel R; Butchbach, Matthew E R MER; Adega, Filomena F

Publication Date: 2022-05-27

Variant appearance in text: SMN1: 840C>T

PubMed Link: 35741345

Variant Present in the following documents:

• Main text
• biology-11-00824.pdf

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The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.

Molecular Genetics & Genomic Medicine

Ware, Gardenier G; Miller, Cecelia C; Jones, Dan D; Avenarius, Matthew M

Publication Date: 2022-04

Variant appearance in text: SMN1: 840C>T

PubMed Link: 35289093

Variant Present in the following documents:

• Main text
• MGG3-10-e1897.pdf

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Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Scientific Reports

Zhao, Sumin S; Wang, Yaoshen Y; Xin, Xiuqing X; Fang, Zhonghai Z; Fan, Linlin L; Peng, Zhiyu Z; Han, Rui R; Shi, Chaonan C; Zhang, Yixiang Y; Fan, Chuang C; Sun, Jun J; He, Xuelian X

Publication Date: 2022-01-07

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34997153

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4325.pdf

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Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Scientific Reports

Zhao, Sumin S; Wang, Yaoshen Y; Xin, Xiuqing X; Fang, Zhonghai Z; Fan, Linlin L; Peng, Zhiyu Z; Han, Rui R; Shi, Chaonan C; Zhang, Yixiang Y; Fan, Chuang C; Sun, Jun J; He, Xuelian X

Publication Date: 2022-01-07

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34997153

Variant Present in the following documents:

• Main text
• 41598_2021_Article_4325.pdf

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics

, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ

Publication Date: 2021-12-01

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34570182

Variant Present in the following documents:

• jamapediatr-e213496-s002.pdf
• jamapediatr-e213496-s003.xlsx, sheet 1

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The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.

International Journal Of Molecular Sciences

Costa-Roger, Mar M; Blasco-Pérez, Laura L; Cuscó, Ivon I; Tizzano, Eduardo F EF

Publication Date: 2021-08-21

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34445733

Variant Present in the following documents:

• Main text

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Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review.

International Journal Of Molecular Sciences

Chong, Li Chuin LC; Gandhi, Gayatri G; Lee, Jian Ming JM; Yeo, Wendy Wai Yeng WWY; Choi, Sy-Bing SB

Publication Date: 2021-08-20

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34445667

Variant Present in the following documents:

• Main text
• ijms-22-08962.pdf

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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

International Journal Of Molecular Sciences

Butchbach, Matthew E R MER

Publication Date: 2021-07-23

Variant appearance in text: SMA: 840C>T

PubMed Link: 34360669

Variant Present in the following documents:

• Main text
• ijms-22-07896.pdf

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SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Frontiers In Neurology

Bowen, B Monica BM; Truty, Rebecca R; Aradhya, Swaroop S; Bristow, Sara L SL; Johnson, Britt A BA; Morales, Ana A; Tan, Christopher A CA; Westbrook, M Jody MJ; Winder, Thomas L TL; Chavez, Juan C JC

Publication Date: 2021

Variant appearance in text: SMN1: 840C>T

PubMed Link: 34025568

Variant Present in the following documents:

• Main text
• fneur-12-663911.pdf

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A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease.

Frontiers In Molecular Biosciences

Clarke, Joseph P JP; Thibault, Patricia A PA; Salapa, Hannah E HE; Levin, Michael C MC

Publication Date: 2021

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33912591

Variant Present in the following documents:

• Main text

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Spinal Muscular Atrophy after Nusinersen Therapy: Improved Physiology in Pediatric Patients with No Significant Change in Urine, Serum, and Liquor 1H-NMR Metabolomes in Comparison to an Age-Matched, Healthy Cohort.

Metabolites

Deutsch, Leon L; Osredkar, Damjan D; Plavec, Janez J; Stres, Blaž B

Publication Date: 2021-03-30

Variant appearance in text:

PubMed Link: 33808177

Variant Present in the following documents:

• Main text

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.

Orphanet Journal Of Rare Diseases

Vill, Katharina K; Schwartz, Oliver O; Blaschek, Astrid A; Gläser, Dieter D; Nennstiel, Uta U; Wirth, Brunhilde B; Burggraf, Siegfried S; Röschinger, Wulf W; Becker, Marc M; Czibere, Ludwig L; Durner, Jürgen J; Eggermann, Katja K; Olgemöller, Bernhard B; Harms, Erik E; Schara, Ulrike U; Kölbel, Heike H; Müller-Felber, Wolfgang W

Publication Date: 2021-03-31

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33789695

Variant Present in the following documents:

• 13023_2021_Article_1783.pdf

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Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.

The Application Of Clinical Genetics

Keinath, Melissa C MC; Prior, Devin E DE; Prior, Thomas W TW

Publication Date: 2021

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33531827

Variant Present in the following documents:

• Main text
• tacg-14-11.pdf

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Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.

Degenerative Neurological And Neuromuscular Disease

Jędrzejowska, Maria M

Publication Date: 2020

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33364872

Variant Present in the following documents:

• Main text

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VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV.

Cancer Informatics

Ptok, Johannes J; Theiss, Stephan S; Schaal, Heiner H

Publication Date: 2020

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33281441

Variant Present in the following documents:

• Main text
• 10.1177_1176935120976399.pdf

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Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument.

Scientific Reports

Jiang, Lingxia L; Lin, Robert R; Gallagher, Steve S; Zayac, Andrew A; Butchbach, Matthew E R MER; Hung, Paul P

Publication Date: 2020-11-16

Variant appearance in text: SMN1: 840C>T

PubMed Link: 33199817

Variant Present in the following documents:

• Main text
• 41598_2020_Article_76893.pdf

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Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Brain Communications

Wadman, Renske I RI; Jansen, Marc D MD; Stam, Marloes M; Wijngaarde, Camiel A CA; Curial, Chantall A D CAD; Medic, Jelena J; Sodaar, Peter P; Schouten, Jan J; Vijzelaar, Raymon R; Lemmink, Henny H HH; van den Berg, Leonard H LH; Groen, Ewout J N EJN; van der Pol, W Ludo WL

Publication Date: 2020

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32954327

Variant Present in the following documents:

• fcaa075_supplementary_data.pdf

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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Wang, Wanyang W; Wang, Yaoshen Y; Han, Rui R; Fan, Chunna C; Ni, Peixiang P; Guo, Fengyu F; Zeng, Fanwei F; Yang, Qiaona Q; Yang, Yun Y; Sun, Yan Y; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Shang, Xuan X; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2021-01

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32884118

Variant Present in the following documents:

• Main text

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Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.

Annals Of Laboratory Medicine

Pan, Jianyan J; Zhang, Chunhua C; Teng, Yanling Y; Zeng, Sijing S; Chen, Siyi S; Liang, Desheng D; Li, Zhuo Z; Wu, Lingqian L

Publication Date: 2021-01

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32829585

Variant Present in the following documents:

• Main text
• alm-2021-41-1-101.pdf

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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

Bmc Medical Genetics

Sun, Yingjie Y; Kong, Xiangdong X; Zhao, Zhenhua Z; Zhao, Xuechao X

Publication Date: 2020-06-18

Variant appearance in text: SMA: 840C>T

PubMed Link: 32552676

Variant Present in the following documents:

• 12881_2020_Article_1069.pdf

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Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

Journal Of Neuromuscular Diseases

Kekou, Kyriaki K; Svingou, Maria M; Sofocleous, Christalena C; Mourtzi, Niki N; Nitsa, Evangelia E; Konstantinidis, George G; Youroukos, Sotiris S; Skiadas, Konstantinos K; Katsalouli, Marina M; Pons, Roser R; Papavasiliou, Antigoni A; Kotsalis, Charalabos C; Pavlou, Evangelos E; Evangeliou, Athanasios A; Katsarou, Efstathia E; Voudris, Konstantinos K; Dinopoulos, Argirios A; Vorgia, Pelagia P; Niotakis, George G; Diamantopoulos, Nikolaos N; Nakou, Iliada I; Koute, Vasiliki V; Vartzelis, George G; Papadimas, George-Konstantinos GK; Papadopoulos, Constantinos C; Tsivgoulis, Georgios G; Traeger-Synodinos, Joanne J

Publication Date: 2020

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32417790

Variant Present in the following documents:

• Main text

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Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Neurology. Genetics

Winder, Thomas L TL; Tan, Christopher A CA; Klemm, Sarah S; White, Hannah H; Westbrook, Jody M JM; Wang, James Z JZ; Entezam, Ali A; Truty, Rebecca R; Nussbaum, Robert L RL; McNally, Elizabeth M EM; Aradhya, Swaroop S

Publication Date: 2020-04

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32337338

Variant Present in the following documents:

• Main text
• NG2019011031.pdf

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Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Frontiers In Genetics

Vorster, Elana E; Essop, Fahmida B FB; Rodda, John L JL; Krause, Amanda A

Publication Date: 2020

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32117462

Variant Present in the following documents:

• Main text

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Chen, Xiao X; Sanchis-Juan, Alba A; French, Courtney E CE; Connell, Andrew J AJ; Delon, Isabelle I; Kingsbury, Zoya Z; Chawla, Aditi A; Halpern, Aaron L AL; Taft, Ryan J RJ; , ; Bentley, David R DR; Butchbach, Matthew E R MER; Raymond, F Lucy FL; Eberle, Michael A MA

Publication Date: 2020-05

Variant appearance in text: SMN1: 840C>T

PubMed Link: 32066871

Variant Present in the following documents:

• Main text
• 41436_2020_Article_754.pdf

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One Year of Newborn Screening for SMA - Results of a German Pilot Project.

Journal Of Neuromuscular Diseases

Vill, Katharina K; Kölbel, Heike H; Schwartz, Oliver O; Blaschek, Astrid A; Olgemöller, Bernhard B; Harms, Erik E; Burggraf, Siegfried S; Röschinger, Wulf W; Durner, Jürgen J; Gläser, Dieter D; Nennstiel, Uta U; Wirth, Brunhilde B; Schara, Ulrike U; Jensen, Beate B; Becker, Marc M; Hohenfellner, Katharina K; Müller-Felber, Wolfgang W

Publication Date: 2019

Variant appearance in text: SMN1: 840C>T

PubMed Link: 31594245

Variant Present in the following documents:

• Main text
• jnd-6-jnd190428.pdf

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

European Journal Of Human Genetics : Ejhg

Czibere, Ludwig L; Burggraf, Siegfried S; Fleige, Tobias T; Glück, Birgit B; Keitel, Lisa Marie LM; Landt, Olfert O; Durner, Jürgen J; Röschinger, Wulf W; Hohenfellner, Katharina K; Wirth, Brunhilde B; Müller-Felber, Wolfgang W; Vill, Katharina K; Becker, Marc M

Publication Date: 2020-01

Variant appearance in text: SMN1: 840C>T; rs1164325688

PubMed Link: 31363188

Variant Present in the following documents:

• Main text

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The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

Plos One

Vijzelaar, Raymon R; Snetselaar, Reinier R; Clausen, Martijn M; Mason, Amanda G AG; Rinsma, Marrit M; Zegers, Marinka M; Molleman, Naomi N; Boschloo, Renske R; Yilmaz, Rizkat R; Kuilboer, Romy R; Lens, Sylvia S; Sulchan, Syamiroh S; Schouten, Jan J

Publication Date: 2019

Variant appearance in text: SMN1: 840C>T

PubMed Link: 31339938

Variant Present in the following documents:

• Main text
• pone.0220211.pdf

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Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Frontiers In Genetics

Gao, Chao C; Wang, Xiaona X; Mei, Shiyue S; Li, Dongxiao D; Duan, Jiali J; Zhang, Pei P; Chen, Baiyun B; Han, Liang L; Gao, Yang Y; Yang, Zhenhua Z; Li, Bing B; Yang, Xiu-An XA

Publication Date: 2019

Variant appearance in text: SMN1: 840C>T

PubMed Link: 31178897

Variant Present in the following documents:

• Main text
• Table_4.xlsx, sheet 1

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Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.

Nucleic Acids Research

Donadon, Irving I; Bussani, Erica E; Riccardi, Federico F; Licastro, Danilo D; Romano, Giulia G; Pianigiani, Giulia G; Pinotti, Mirko M; Konstantinova, Pavlina P; Evers, Melvin M; Lin, Shuo S; Rüegg, Markus A MA; Pagani, Franco F

Publication Date: 2019-08-22

Variant appearance in text: SMN1: 840C>T

PubMed Link: 31127278

Variant Present in the following documents:

• Main text

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Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors.

European Journal Of Human Genetics : Ejhg

Serra-Juhe, Clara C; Tizzano, Eduardo F EF

Publication Date: 2019-12

Variant appearance in text: SMA: 840C>T

PubMed Link: 31053787

Variant Present in the following documents:

• Main text
• 41431_2019_Article_415.pdf

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Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes.

Plos One

Hellbach, Nicole N; Peterson, Suzanne S; Haehnke, Daniel D; Shankar, Aditi A; LaBarge, Samuel S; Pivaroff, Cullen C; Saenger, Stefanie S; Thomas, Carolin C; McCarthy, Kathleen K; Ebeling, Martin M; Hayhurst Bennett, Monica M; Schmidt, Uli U; Metzger, Friedrich F

Publication Date: 2018

Variant appearance in text: SMN1: 840C>T

PubMed Link: 30304024

Variant Present in the following documents:

• Main text

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Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.

Current Genomics

Maretina, Marianna A MA; Zheleznyakova, Galina Y GY; Lanko, Kristina M KM; Egorova, Anna A AA; Baranov, Vladislav S VS; Kiselev, Anton V AV

Publication Date: 2018-08

Variant appearance in text: SMN1: 840C>T

PubMed Link: 30065610

Variant Present in the following documents:

• Main text
• CG-19-339.pdf

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