Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Authors: Weisburd, Ben ^{1, 2, ∗}, Sharma, Rakshya ^{1, 3}, Pata, Villem ^{4, 5}, Reimand, Tiia ^{4, 6}, Ganesh, Vijay S. ^{1, 2, 7, 8}, Austin-Tse, Christina ^{1, 2}, Osei-Owusu, Ikeoluwa ^{1, 8}, O’Heir, Emily ^{1, 8}, O’Leary, Melanie ¹, Pais, Lynn ^{1, 8}, Stafki, Seth A. ⁹, Daugherty, Audrey L. ⁹, Folland, Chiara ¹⁰, Peric, Stojan ^{11, 12}, Fahmy, Nagia ¹³, Udd, Bjarne ¹⁴, Horáková, Magda ^{15, 16}, Łusakowska, Anna ¹⁷, Manoj, Rajanna ¹⁸, Nalini, Atchayaram ¹⁸, Karcagi, Veronika ¹⁹, Polavarapu, Kiran ²⁰, Lochmüller, Hanns ^{20, 21, 22}, Horvath, Rita ²³, Bönnemann, Carsten G. ²⁴, Donkervoort, Sandra ²⁴, Haliloğlu, Göknur ^{24, 25}, Herguner, Ozlem ²⁶, Kang, Peter B. ⁹, Ravenscroft, Gianina ^{10, 27}, Laing, Nigel ^{10, 27}, Scott, Hamish S. ²⁸, Töpf, Ana ²⁹, Straub, Volker ²⁹, Pajusalu, Sander ^{4, 6}, Õunap, Katrin ^{4, 6}, Tiao, Grace ¹, Rehm, Heidi L. ^{1, 2}, O’Donnell-Luria, Anne ^{1, 2, 8, ∗}

Source: In Genetics in Medicine April 2025 27(4)

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Authors: Stafki, Seth A., Turner, Johnnie, Littel, Hannah R., Bruels, Christine C., Truong, Don, Knirsch, Ursula, Stettner, Georg M., Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A., Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F., Bernard, Geneviève, Ellis, David, Fassihi, Hiva, Lehmann, Alan R., Laugel, Vincent, Mohammed, Shehla, Kang, Peter B.

Source: Pediatric neurology. 141:79-86

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186184044.0x000001&indx=1&recIds=ETOCvdc_100186184044.0x000001

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Authors: Bruels, Christine C., Littel, Hannah R., Daugherty, Audrey L., Stafki, Seth, Estrella, Elicia A., McGaughy, Emily S., Truong, Don, Badalamenti, Jonathan P., Pais, Lynn, Ganesh, Vijay S., O'Donnell‐Luria, Anne, Stalker, Heather J., Wang, Yang, Collins, Christin, Behlmann, Andrea, Lemmers, Richard J. L. F., Maarel, Silvère M., Laine, Regina, Ghosh, Partha S., Darras, Basil T., Zingariello, Carla D., Pacak, Christina A., Kunkel, Louis M., Kang, Peter B.

Source: Annals of clinical and translational neurology. 9(8):1302-1309

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158351955.0x000001&indx=1&recIds=ETOCvdc_100158351955.0x000001

Predicting the phenotype of Pompe Disease from features of GAAvariants

Authors: Rajamani, Geetanjali, Pillai, Nishitha R., Stafki, Seth A., Karachunski, Peter I., Kang, Peter B.

Source: European Journal of Human Genetics: EJHG; 20250101, Issue: Preprints p1-4, 4p

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Authors: Turner, Johnnie, Bruels, Christine C., Daugherty, Audrey L., Estrella, Elicia A., Stafki, Seth, Syeda, Safoora B., Littel, Hannah R., Pais, Lynn, Ganesh, Vijay S., Lidov, Hart G. W., Paine, Simon M. L., Maddison, Paul, Harrison, Rachel E., Straub, Volker, Ghosh, Partha S., Pacak, Christina A., Kunkel, Louis M., Draper, Isabelle, Topf, Ana, Kang, Peter B.

Source: Muscle & Nerve; Oct2024, Vol. 70 Issue 4, p843-850, 8p

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.

Authors: Rajamani, Geetanjali, Stafki, Seth A., Daugherty, Audrey L., Mantyh, William G., Littel, Hannah R., Bruels, Christine C., Pacak, Christina A., Robbins, Paul D., Niedernhofer, Laura J., Abiona, Adesoji, Giunti, Paola, Mohammed, Shehla, Laugel, Vincent, Kang, Peter B.

Source: Neurology: Clinical Practice; Aug2024, Vol. 14 Issue 4, p1-12, 12p

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Authors: Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O'Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto

Source: Acta Neuropathologica; Apr2023, Vol. 145 Issue 4, p479-496, 18p

Subject Terms: MUSCULAR dystrophy, FACIOSCAPULOHUMERAL muscular dystrophy, MUSCLE diseases, MUSCLE weakness, SYMPTOMS, LEARNING disabilities

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Authors: Gunasekaran, Mekala¹ (AUTHOR), Littel, Hannah R.¹ (AUTHOR), Wells, Natalya M.¹ (AUTHOR), Turner, Johnnie¹ (AUTHOR), Campos, Gloriana¹ (AUTHOR), Venigalla, Sree¹ (AUTHOR), Estrella, Elicia A.² (AUTHOR), Ghosh, Partha S.³ (AUTHOR), Daugherty, Audrey L.¹ (AUTHOR), Stafki, Seth A.¹ (AUTHOR), Kunkel, Louis M.² (AUTHOR), Foley, A. Reghan⁴ (AUTHOR), Donkervoort, Sandra⁴ (AUTHOR), Bönnemann, Carsten G.⁴ (AUTHOR), Toledo‐Bravo de Laguna, Laura⁵ (AUTHOR), Nascimento, Andres^6,7 (AUTHOR), Natera‐de Benito, Daniel^6,7 (AUTHOR), Draper, Isabelle⁸ (AUTHOR), Bruels, Christine C.¹ (AUTHOR), Pacak, Christina A.¹ (AUTHOR) cpacak@umn.edu

Source: FEBS Journal. Jan2025, p1. 16p. 12 Illustrations, 3 Charts.