SeemaRLalaniMD

PubMed

• variants in the non-coding spliceosomal snRNA geneare a frequent cause of syndromic neurodevelopmental disorders.
  Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle...> ;Medrxiv. 2024 Apr 9
• The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
  Shenglan Li, Sen Zhao, Jefferson C Sinson, Aleksandar Bajic, Jill A Rosenfeld, Matthew B Neeley, Mezthly Pena, Kim C Worley, Lindsay C Burrage, Monika Weisz-Hubshman, ...> ;American Journal of Human Genetics. 2024 Apr 3
• Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
  Roni Zemet, Elizabeth Mizerik, Jill A Rosenfeld, Liesbeth Vossaert, Christian M Parobek, Matthew A Shanahan, Brian A Burnett, Steven L Clark, Jill V Hunter, Seema R La...> ;Clinical Genetics. 2024 Mar 28
• Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
  Amanda Gerard, Elizabeth Mizerik, Carrie A Mohila, Sarah AlAwami, Jill V Hunter, Debra L Kearney, Seema R Lalani, Fernando Scaglia> ;American Journal of Medical Genetics. Part A. 2024 Mar 12
• Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.
  Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehreb...> ;Human Genetics. 2024 Mar 1
• Improving access to exome sequencing in a medically underserved population through the Texome Project.
  Blake Vuocolo, Ryan J German, Seema R Lalani, Chaya N Murali, Carlos A Bacino, Stephanie Baskin, Rebecca Littlejohn, John D Odom, Scott McLean, Carrie Schmid, Morgan N...> ;Genetics in Medicine. 2024 Feb 29
• variants inare associated with hearing impairment, ocular pathology, and cardiac defects.
  Mengqi Ma, Yiming Zheng, Shenzhao Lu, Xueyang Pan, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani...> ;Medrxiv. 2024 Jan 9
• Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
  Accogli, A., Shakya, S., Yang, T., Insinna, C., Kim, S., Bell, D., Butov, K., Severino, M., Niceta, M., Scala, M., Lee, H., Yoo, T., Stauffer, J., Zhao, H., Fiorillo, ...> ;Nature Communications. 2024 Jan 8
• Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
  Vuocolo, B., Sierra, R., Brooks, D., Holder, C., Urbanski, L., Rodriguez, K., Gamez, J., Mulukutla, S., Berry, L., Hernandez, A., Allegre, A., Hidalgo, H., Rodriguez, ...> ;Research Square. 2023 Dec 13
• Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
  Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Sophie Nambot, Bertrand Isidor, Jasper J van der Smagt, Joseph J Shen, Amelle S...> ;American Journal of Medical Genetics. Part A. 2024 Mar 1
• Lack of Methylation Changes inandNon-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.
  Angelo Augusto M Sumalde, Ivana V Yang, Talitha Karisse L Yarza, Celina Ann M Tobias-Grasso, Ma Leah C Tantoco, Elizabeth Davidson, Abner L Chan, Mahshid S Azamian, Te...> ;Acta Medica Philippina. 2023 Sep 28
• 3 citations
  A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
  Benjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes, Jiuann-Huey Ivy Lin, Cecilia W Lo, William L Border, Stephanie Burns Wechsler, Chaya N Murali, Mahshid S Azam...> ;Journal of the American Heart Association. 2023 Sep 19
• 3 citations
  Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
  Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, J...> ;European Journal of Human Genetics. 2023 Dec 1
• 2 citations
  Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
  Kramer, R., Fatahian, A., Chan, A., Mortenson, J., Osher, J., Sun, B., Parker, L., Rosamilia, M., Potter, K., Moore, K., Atkins, S., Rosenfeld, J., Birjiniuk, A., Jone...> ;Circulation. Genomic and Precision Medicine. 2023 Aug 1
• Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
  Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Gha...> ;Brain. 2023 Dec 1
• 3 citations
  Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
  Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro M...> ;American Journal of Human Genetics. 2023 Aug 3
• 1 citations
  Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural histor...
  Christina Y Miyake, Lilei Zhang, Samuel J Mackenzie, Mahshid S Azamian, Daryl A Scott, Andres Hernandez-Garcia, Seema R Lalani, Saad A Ehsan> ;American Journal of Medical Genetics. Part A. 2023 Sep 1
• 1 citations
  Dominant negative variants incause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and develop...
  Arezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, Gui Xiang Yang, Henry Lu, Mehul Sharma, Susan Lin, Areesha Salman, Meriam Waqas, Mahshid Sababi Azamian, Ki...> ;Journal of Medical Genetics. 2023 Nov 1
• 8 citations
  Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
  Christina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, Kevin E Glinton, Kimberly M Houck, Mustafa Tosur, Nancy E Moran, Sara B Stephens, Fernando Scaglia, Taylor S Ho...> ;Genetics in Medicine. 2023 Apr 1
• 4 citations
  Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
  Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, ...> ;Genetics in Medicine. 2023 Jul 1
• Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.
  Weiyi Xu, Andrea Graves, Monika Weisz-Hubshman, Lamees Hegazy, Christina Magyar, Zian Liu, Eleni Nasiotis, Md Abul Hassan Samee, Thomas Burris, Seema Lalani, Lilei Zhang> ;Human Molecular Genetics. 2023 Mar 6
• 5 citations
  B-complex vitamins for patients with TANGO2-deficiency disorder.
  Sarah E Sandkuhler, Lilei Zhang, Joshua K Meisner, Lina Ghaloul-Gonzalez, Cheyenne M Beach, David Harris, Pascale de Lonlay, Seema R Lalani, Christina Y Miyake, Samuel...> ;Journal of Inherited Metabolic Disease. 2023 Mar 1
• 2 citations
  Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
  Laura Keehan, Isabel Haviland, Yoel Gofin, Lindsay C Swanson, Christelle Moufawad El Achkar, John Schreiber, Grace E VanNoy, Emily O'Heir, Anne O'Donnell-Luria, Richar...> ;American Journal of Medical Genetics. Part A. 2022 Dec 1
• 8 citations
  Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
  Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, Raashda A Sulaiman, Jill A Rosenfeld, Seema Lalani, David R Murdock, Lindsay C Burrage, , Ping Yee Billie Au, Shel...> ;Brain. 2023 Apr 19
• 10 citations
  Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
  Christina Y Miyake, Erica J Lay, Cheyenne M Beach, Scott R Ceresnak, Caridad M Delauz, Taylor S Howard, Christopher M Janson, Kate Jardine, Prince J Kannankeril, Maina...> ;Heart Rhythm. 2022 Oct 1
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