RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Authors: Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

Source: Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/860e70257811492c86104f77a86c65ba

19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation

Authors: John Herriges, Zoe K. Lewis, Bradley Coe, Cassandra K. Runke, Rachel D. Burnside, Laura K. Conlin, Benjamin A. Hilton, Nicole Hoppman, Vaidehi Jobanputra, Brynn Levy, Lucilla Pizzo, Erin Rooney Riggs, Andrea K. Vaags, Shulin Zhang, Christa Lese Martin, Erica F. Andersen

Source: Genetics in Medicine Open, Vol 3, Iss , Pp 101936- (2025)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424010823; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/36917a0a277e4a689f33194c200a1a51

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Authors: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson

Source: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-9 (2022)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/6001bbde95b843eb810237b20bf13851

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Authors: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan, Teresa A. Smolarek

Source: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)

Subject Terms: Mitotic rescue, Unbalanced translocation, SNP microarray, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8166

Access URL: https://doaj.org/article/41d42ea5034647e1b7ea1ba568f91137

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Authors: Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin

Source: Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)

Subject Terms: Clinical exome sequencing, Copy-number variation, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/a1bbe7d0b96a41d193b68bbd3b6c3209

Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

Authors: Amy L. Shackelford, Laura K. Conlin, Marybeth Hummel, Nancy B. Spinner, Sharon L. Wenger

Source: Case Reports in Genetics, Vol 2013 (2013)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

Access URL: https://doaj.org/article/660e82dc741b472dbe5e0beb302b83e9

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Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

Authors: Maninder Kaur, Kosuke Izumi, Alisha B Wilkens, Kathryn C Chatfield, Nancy B Spinner, Laura K Conlin, Zhe Zhang, Ian D Krantz

Source: PLoS ONE, Vol 9, Iss 10, p e108853 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4199614?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/91928464ae7248a684e346e1f666cffc

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Authors: Sohela Shah, Laura K Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A S Knisely, Michael T Mennuti, Randolph P Matthews, Nancy B Spinner, Laura N Bull

Source: PLoS ONE, Vol 8, Iss 9, p e75770 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3784396?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/12f3cadbcd5a45768f589b72f5b649c5