LanceHarringtonRodanMD

PubMed

• Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism.
  Riley Kessler, Amisha Patel, Nishtha Gupta, Trevor McHugh, Alexander K Gonzalez, France W Fung, Lance Rodan, Chellamani Harini, Sudha K Kessler> ;Neurology. 2024 May 1
• 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
• Biallelic variation in the choline and ethanolamine transporterunderlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
  Calame, D., Wong, J., Panda, P., Nguyen, D., Leong, N., Sangermano, R., Patankar, S., Abdel-Hamid, M., AlAbdi, L., Safwat, S., Flannery, K., Dardas, Z., Fatih, J., Mur...> ;Medrxiv. 2024 Feb 13
• 1 citations
  Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
  Agrawal, P. B., Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Elisa A W...> ;Nature Communications. 2023 Jul 11
• De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
  Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A High, Jiahai Shi,...> ;American Journal of Human Genetics. 2023 Aug 3
• 3 citations
  A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
  Sharayu V Jangam, Lauren C Briere, Kristy L Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, , Shinya Yamamoto, David A Sweetser, Michael F Wa...> ;Genetics. 2023 Aug 9
• 2 citations
  Amissense variant inassociated with developmental delay exhibits functional deficits in.
  Sharayu Jangam, Lauren C Briere, Kristy Jay, Jonathan C Andrews, Melissa A Walker, Lance H Rodan, Frances A High, , Shinya Yamamoto, David A Sweetser, Michael Wangler> ;Medrxiv. 2023 Feb 3
• 2 citations
  Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
  Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E Antonarakis, Azadeh Aza...> ;American Journal of Human Genetics. 2023 Feb 2
• 3 citations
  Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital ...
  Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K Bijlsma, Kristen M Wigby, Diana Baralle, Mohammad Y V Mehrjardi, J...> ;Genetics in Medicine. 2023 Jan 1
• 5 citations
  Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
  Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S Zaki, Andrea Ciolfi, Julien Paccaud, François Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Ker...> ;American Journal of Human Genetics. 2022 Oct 6
• 7 citations
  The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
  Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A High, Melissa A Walker, Lance H...> ;American Journal of Human Genetics. 2022 Oct 6
• 3 citations
  SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
  Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne-Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri...> ;Human Molecular Genetics. 2022 Sep 29
• Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
  Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H Rodan, David R Thorburn, John Christodoulou, S...> ;JIMD Reports. 2022 Sep 1
• 4 citations
  Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
  Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
  Renzo Guerrini, Davide Mei, Katalin Kerti-Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly McDonald, Janice Baker, Vikas Bhambhani, Zöe ...> ;Brain. 2022 Aug 27
• 4 citations
  The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
  Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Hea...> ;Genetics in Medicine. 2022 Nov 1
• 11 citations
  Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
  Stephenson, S., Costain, G., Blok, L., Silk, M., Nguyen, T., Dong, X., Alhuzaimi, D., Dowling, J., Walker, S., Amburgey, K., Hayeems, R., Rodan, L., Schwartz, M., Pick...> ;American Journal of Human Genetics. 2022 Apr 7
• 4 citations
  Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.
  Julian E Alecu, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Oleksandr Strelko, Catherine A Brownstein, Joseph Gonzalez-Heydrich, Lance H Rodan, Mark P Gorman, Darius ...> ;Annals of Clinical and Translational Neurology. 2022 Apr 1
• 25 citations
  Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
  Chopra, M., Gable, D., Love-Nichols, J., Tsao, A., Rockowitz, S., Sliz, P., Barkoudah, E., Bastianelli, L., Coulter, D., Davidson, E., DeGusmao, C., Fogelman, D., Huth...> ;Annals of Clinical and Translational Neurology. 2022 Feb 1
• 10 citations
  Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
  Elodie Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty, Alex M. Pagnozzi, Sandra M. Nordlie, Brandon S. Guida, Patricia...> ;American Journal of Human Genetics. 2021 Oct 7
• 1 citations
  Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
  Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E Antonarakis, Isis Atallah, Omer Bar-Y...> ;Genetics in Medicine. 2021 Oct 1
• 5 citations
  O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
  Clara Velmans, Anne H. O’Donnell-Luria, Emanuela Argilli, Frédéric Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine L.F. Fung, Megan E. Rech, Angela Abicht, M...> ;Journal of Medical Genetics. 2021 Jul 28
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
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• 4 citations
  CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
  Elizabeth E. Palmer, Chloe Whitton, Mais Hashem, Robin D. Clark, Subhadra Ramanathan, Lois J. Starr, Danita Velasco, John Karl de Dios, Emily Singh, Valérie Cormier-Da...> ;Clinical Genetics. 2021 Jul 13
• 7 citations
  Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
  Egidio Spinelli, Kyle R Christensen, Emily Bryant, Amy L Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca O. Littlejohn, Elizabeth Roeder,...> ;Annals of Neurology. 2021 Aug 1
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Journal Articles

• Gain‐of‐Function Variants in the ODC1 Gene Cause a Syndromic Neurodevelopmental Disorder Associated with Macrocephaly, Alopecia, Dysmorphic Features, and Neuroimaging ...  
  Sanjeev V Kothare, Farrah Rajabi, Annapurna Poduri, Lance H Rodan, Ralph J DeBerardinis, American Journal of Medical Genetics Part A
• The Spectrum of Movement Disorders in Childhood‐Onset Lysosomal Storage Diseases  
  Peter E Davis, Clara Hildebrandt, Irina Anselm, Lance H Rodan, Movement Disorders Clinical Practice
• Defining the Phenotypic Spectrum of SLC6A1 Mutations  
  Lance H Rodan, Heather C Mefford, Lynne M Bird, Sara Chadwick Reichert, Mark Nespeca, Orrin Devinsky, Sarah Hopkins, Laura Pisani, John J Millichap, Joseph G Gleeson, Epilepsia