BrendanCoeLanpherMD

PubMed

• Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
  Alejandro Ferrer, Patrick Duffy, Rory J Olson, Michael A Meiners, Laura Schultz-Rogers, Erica L Macke, Stephanie Safgren, Joel A Morales-Rosado, Margot A Cousin, Gavin...> ;Human Genetics. 2024 Mar 27
• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• Retrospective study of propionic acidemia using natural language processing in Mayo Clinic electronic health record data.
  Hannah Barman, Vanja Sikirica, Katherine Carlson, Eli Silvert, Katherine Brewer Carlson, Suzanne Boyer, Ruchira Glaser, Eva Morava, Tyler Wagner, Brendan Lanpher> ;Molecular Genetics and Metabolism. 2023 Nov 1
• Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
  Nishitha R Pillai, Tory V Kaye, Sondra D Rosendahl, Alia Ahmed, Amy D Hietala, Alissa B Jorgenson, Brendan C Lanpher, Chester B Whitley, Fabie, N.> ;Molecular Genetics and Metabolism. 2023 Jun 25
• 6 citations
  Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
  Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A Zarate, G Bradley Schaefer, Jorge Luis Granadillo De Luque,...> ;American Journal of Human Genetics. 2023 May 4
• 1 citations
  Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?
  Whitney S Thompson, Ellen M Bendel-Stenzel, Brendan C Lanpher, Grace M Arteaga, Raymond C Stetson, Stephanie C Mavis> ;Neonatology. 2023 Jan 1
• Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.
  Faizal Z Asumda, Jessica A Kraker, Sarah C Thomas, Joseph Maleszewski, Edwin M Stone, Brendan C Lanpher, Lisa A Schimmenti> ;Therapeutic Advances in Rare Disease. 2023 Jan 12
• 3 citations
  Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.
  Whitney S Thompson, Jacob R Greenmyer, Brendan C Lanpher, Jane E Brumbaugh, Ellen M Bendel-Stenzel, David P Dimmock, Charlotte A Hobbs, Samar H Ibrahim, Amber N Hildreth> ;Liver Transplantation. 2023 Jan 1
• 1 citations
  Pediatric manifestations of Lynch Syndrome: A single center experience.
  Taleen A MacArthur, Laura J Ongie, Brendan C Lanpher, Michael B Ishitani> ;Journal of Pediatric Surgery Case Reports. 2022 Nov 1
• 10 citations
  coding variants in thegene cause a neurodevelopmental disorder with intellectual disability.
  Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé ...> ;Journal of Medical Genetics. 2022 Oct 1
• 6 citations
  Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
  Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David L. Coulter, Eric W. Klee, Sureni V Mullegama, Yili Xie, Brendan C. Lanpher, Emma Bedoukian, Cara M. Skr...> ;Brain Sciences. 2021 Jul 14
• 6 citations
  One is the loneliest number: genotypic matchmaking using the electronic health record.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;Genetics in Medicine. 2021 Jul 6
• 35 citations
  Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
  Margot A. Cousin, Blake A Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald James Edwards, Simone Afr...> ;Nature Genetics. 2021 Jul 1
• 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
• 13 citations
  De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
  Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini, Victor Murcia Pienkowski, Kristen J. Rasmussen, Rebecca Hernan, Faiza Rasheed, Mureed Hussain, Mohsin Shahzad, Bren...> ;American Journal of Human Genetics. 2021 Jun 3
• 3 citations
  Erratum: A form of muscular dystrophy associated with pathogenic variants in JAG2 (The American Journal of Human Genetics (2021) 108(5) (840–856), (S0002929721001300),...
  Sandra Coppens, Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas-Franco, Christine C. Bruels, Sandra Donkervoort, Lynn Pais, Katheri...> ;American Journal of Human Genetics. 2021 Jun 3
• 7 citations
  TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
  Bradley Bowles, Alejandro Ferrer, Carla Nishimura, Filippo Vairo, Tristan Rey, Bruno Leheup, Jennifer A. Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dari...> ;American Journal of Medical Genetics. Part A. 2021 May 27
• 7 citations
  A form of muscular dystrophy associated with pathogenic variants in JAG2.
  Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas-Franco, Christine C Bruels, Sandra Donkervoort, Lynn Pais, Katherine...> ;American Journal of Human Genetics. 2021 May 6
• Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria
  Ester Perales-Clemente, Angela L. Hewitt, April Studinski, Jan Mendelt Tillema, William Laxen, Devin Oglesbee, Arne H. Graff, Piero Rinaldo, Brendan C. Lanpher> ;JIMD Reports. 2021 Mar 1
• 1 citations
  Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary f...
  Karthik Muthusamy, Christian Hanna, Derek R. Johnson, Carl H. Cramer, Peter J. Tebben, Sharon E. Libi, Gayla L. Poling, Brendan C. Lanpher, Eva Morava, Lisa A. Schimmenti> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 32 citations
  Clinical utility of genomic sequencing: a measurement toolkit
  Robin Z. Hayeems, David Dimmock, David P. Bick, John W Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Gro...> ;NPJ Genomic Medicine. 2020 Dec 15
• 5 citations
  Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report
  Laura Schultz-Rogers, Karthik Muthusamy, Filippo Vairo, Eric W. Klee, Brendan C. Lanpher> ;BMC Medical Genetics. 2020 Nov 10
• 18 citations
  Impact of integrated translational research on clinical exome sequencing.
  Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke, Garrett Jenkinson, Alejandro Ferrer, Laura Schultz-Rogers, Rory J. Olson, Gavin ...> ;Genetics in Medicine. 2021 Mar 1
• Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells.
  Wong SC, Proefke SA, Bhushan A, Matherly LH> ;The Journal of biological chemistry.
• De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
  Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Va...> ;American journal of human genetics.
• Join now to see all