HeatherCMeffordMD

PubMed

• Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
  Alina I Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J Burman, Miriam C Aziz, Jeffrey D Calhoun, Jonathan Gunti, Ezra E Amiri, Aishwarya Ramamurt...> ;Genetics in Medicine. 2023 Feb 1
• Editorial overview: Congenital cardiovascular disease.
  Neil A Hanchard, Heather C Mefford> ;Current Opinion in Genetics & Development. 2022 Dec 1
• 2 citations
  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of.
  Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla...> ;Neurology. 2023 Feb 7
• 2 citations
  De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
  Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F Berkovic, Martin Broly, Patrick Callaerts, Raymond C Caylor, Perrine Charles, ...> ;Genetics in Medicine. 2022 Dec 1
• 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
• 2 citations
  De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
  Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally An...> ;Genetics in Medicine. 2022 Sep 1
• 7 citations
  Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
  Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hira...> ;Brain. 2022 Jul 29
• 9 citations
  Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.
  Karen L Oliver, Colin A Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G Sadleir, Erin L Heinzen, Heather C Mefford, Andrew J Bass, Sarah W Curtis, Rebek...> ;Ebiomedicine. 2022 Jul 1
• 1 citations
  Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families.
  Diana M Cornejo-Sanchez, Anushree Acharya, Thashi Bharadwaj, Lizeth Marin-Gomez, Pilar Pereira-Gomez, Liz M Nouel-Saied, University Of Washington Center For Mendelian ...> ;Genes. 2022 Apr 25
• 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
  PIGN encephalopathy: Characterizing the epileptology.
  Allan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro-Llopis,...> ;Epilepsia. 2022 Apr 1
• 4 citations
  Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.
  Bingcheng Jiang, Cameron Murray, Bonnie L Cole, J N Mark Glover, Gordon K Chan, Jean Deschenes, Rajam S Mani, Sudip Subedi, John D Nerva, Anthony C Wang, Christina M L...> ;Scientific Reports. 2022 Mar 30
• 2 citations
  Mosaicism in clinical genetics.
  Heather C Mefford> ;Cold Spring Harbor Molecular Case Studies. 2021 Dec 1
• 3 citations
  A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes a neurodevelopmental disorder with microcephaly and speech delay
  Dianne Laboy Citron, Alison M. Muir, Abbey A. Scott, Marie T. McDonald, Kristin G. Monaghan, Teresa Santiago Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Branc...> ;HGG Advances. 2021 Nov 25
• De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
  Sathiya N. Manivannan, Jolien Roovers, Noor Smal, Candace T Myers, Dilsad Turkdogan, Filip Roelens, Oguz Kanca, Hyunglok Chung, Tasja Scholz, Katharina Hermann, Tatjan...> ;Brain. 2021 Nov 11
• 2 citations
  Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.
  Wei-Liang Chen, Heather C Mefford> ;Neurotherapeutics. 2021 Sep 16
• Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
  Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikh...> ;Genetics in Medicine. 2021 Oct 1
• 13 citations
  Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
  Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaría, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, ...> ;Brain. 2021 Oct 22
• 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
• 4 citations
  Genetic convergence of developmental and epileptic encephalopathies and intellectual disability
  Gemma L. Carvill, Sandra Jansen, Amy Lacroix, Matthew Zemel, Michele G. Mehaffey, Petra de Vries, Han G. Brunner, Ingrid E. Scheffer, Bert B.A. de Vries, Lisenka E.L.M...> ;Developmental Medicine and Child Neurology. 2021 Jul 11
• 84 citations
  Targeted long-read sequencing identifies missing disease-causing variation
  Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P Almanza Fuerte, Catherine R Paschal, Th...> ;American Journal of Human Genetics. 2021 Aug 5
• 12 citations
  Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
  Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy L. Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi-Lin Yan, Jill A. Rosenf...> ;Genetics in Medicine. 2021 Jun 10
• 6 citations
  Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
  Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V.Y. Tjong, Roddy Walsh, Ihssane El Bouchikh...> ;Genetics in Medicine. 2021 Jun 10
• 21 citations
  Severe speech impairment is a distinguishing feature of FOXP1-related disorder
  Ruth O Braden, David J. Amor, Simon E. Fisher, Cristina Mei, Candace T. Myers, Heather C Mefford, Deepak Gill, Siddharth Srivastava, Lindsay C. Swanson, Himanshu Goel,...> ;Developmental Medicine and Child Neurology. 2021 Jun 9
• 17 citations
  De novo variants in snap25 cause an early-onset developmental and epileptic encephalopathy
  Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Apr 30
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Journal Articles

• Reanalysis and Optimisation of Bioinformatic Pipelines Is Critical for Mutation Detection  
  Heather Mefford, MD, Human Mutation
• The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation Criteria  
  Ghayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
• A De Novo in‐Frame Deletion of CASK Gene Causes Early Onset Infantile Spasms and Supratentorial Cerebral Malformation in a Female Patient  
  Kimberly Foss, Xiuhua Bozarth, Heather C Mefford, American Journal of Medical Genetics Part A
• NBEA: Developmental Disease Gene with Early Generalized Epilepsy Phenotypes  
  Mary K Kukolich, Danielle McBrian, Heather C Mefford, Elaine Pereira, Tristan T Sands, James Riviello, Annals of Neurology
• TANGO2: Expanding the Clinical Phenotype and Spectrum of Pathogenic Variants  
  Jennifer N Dines, Heather C Mefford, Barbara Burton, Joline Dalton, Alice Basinger, Peter Karachunski, Can Ficicioglu, Katherine L Helbig, Nature
• Return of Individual Results in Epilepsy Genomic Research: A View from the Field  
  Heather C Mefford, Daniel H Lowenstein, Annapurna Poduri, Epilepsia
• Severe Neurocognitive and Growth Disorders Due to Variation in THOC2, an Essential Component of Nuclear mRNA Export Machinery  
  Gretchen Parsons, Gail E Herman, Heather Mefford, Paul Mark, Human Mutation
• 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
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