DanielGrantCalameMDPhD(He/Him)

PubMed

• Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk fo...
  Mengqi Ma, Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E Bove, Norma Quintanilla, Sebnem O Sag, Sehime G Temel, Charles A LeDuc, Amanda J McPartland...> ;Genetics in Medicine. 2024 Mar 21
• Optimizing genetic testing strategies for congenital anomalies in Iran.
  Daniel G Calame> ;European Journal of Human Genetics. 2024 Mar 7
• 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
• Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
  Chong, J., Berger, S., Baxter, S., Smith, E., Hawley, M., Rivera-Munoz, E., DiTroia, S., , Bamshad, M., Rehm, H., Xiao, C., Calame, D.> ;Biorxiv. 2024 Feb 10
• 1 citations
  Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.
  Daniel G Calame, Lisa T Emrick> ;Neurotherapeutics. 2024 Jan 1
• 1 citations
  Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
  Maroofian, R., Zamani, M., Kaiyrzhanov, R., Liebmann, L., Karimiani, E., Vona, B., Huebner, A., Calame, D., Misra, V., Sadeghian, S., Azizimalamiri, R., Mohammadi, M.,...> ;Genetics in Medicine. 2024 Mar 1
• PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
  Florence Petit, Mauro Longoni, Julie Wells, Richard S Maser, Eric L Bogenschutz, Matthew J Dysart, Hannah T M Contreras, Frederic Frénois, Barbara R Pober, Robin D Cla...> ;American Journal of Human Genetics. 2023 Oct 5
• 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
  Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
  Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B Balci, Matthew Osmond...> ;European Journal of Human Genetics. 2023 Aug 1
• 1 citations
  Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
  Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche, Sarah Chorfi, Saquib A Lakhani, Weizhen Ji, Laurie Steiner, J...> ;Genetics in Medicine. 2023 Aug 1
• 4 citations
  SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
  Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M Wentzensen, Kit Sing ...> ;American Journal of Human Genetics. 2023 May 4
• 2 citations
  Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
  Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalo...> ;Brain. 2023 Aug 1
• 1 citations
  Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
  F Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M Oud, Elise A Ferreira, Vinod...> ;American Journal of Human Genetics. 2023 Apr 6
• 1 citations
  Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
  Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, Essa Alharby, Makki Almuntashri, Amnah M Alshangiti, Prouteau Clément, Daniel G Calame, Leila Qebibo, Lydie Burg...> ;Genetics in Medicine. 2023 Feb 1
• 4 citations
  Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
  Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flor...> ;American Journal of Human Genetics. 2023 Jan 5
• 4 citations
  A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
  Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Ch...> ;American Journal of Human Genetics. 2022 Sep 1
• 2 citations
  Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Sp...
  Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B...> ;Annals of Neurology. 2022 Aug 1
• 3 citations
  Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
  Elifcan Taşdelen, Daniel G Calame, Gulsen Akay, Tadahiro Mitani, Jawid M Fatih, Isabella Herman, Haowei Du, Zeynep Coban-Akdemir, Dana Marafi, Shalini N Jhangiani, Jen...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 2 citations
  Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.
  Joshua Manor, Daniel G Calame, Charul Gijavanekar, Alyssa Tran, Jawid M Fatih, Seema R Lalani, Elizabeth Mizerik, Mered Parnes, Vidya P Mehta, Adekunle M Adesina, Jame...> ;Brain. 2022 Jun 3
• 7 citations
  NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
  Joshua Manor, Daniel Calame, Charul Gijavanekar, Kristen Fisher, Jill Hunter, Elizabeth Mizerik, Carlos Bacino, Fernando Scaglia, Sarah H Elsea> ;Molecular Genetics and Metabolism. 2022 Jun 1
• 165 citations
  TLR7 gain-of-function genetic variation causes human lupus.
  Grant J Brown, Pablo F Cañete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I Ellyard, Katharine Bassett, Qian Shen...> ;Nature. 2022 May 1
• 6 citations
  Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
  Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Jawid M Fatih, Jill V. Hunter, Isabella Herman, Davut Pehlivan, Sh...> ;Genetics in Medicine. 2021 Aug 12
• 11 citations
  Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
  Isabella Herman, Angad Jolly, Haowei Du, Moez Dawood, Ghada M H Abdel-Salam, Dana Marafi, Tadahiro Mitani, Daniel G. Calame, Zeynep Coban-Akdemir, Jawid M Fatih, Ibrah...> ;American Journal of Medical Genetics. Part A. 2021 Nov 23
• 32 citations
  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
  Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yilmaz Gulec, Jaya Punetha, Jawid M Fatih, Isabella Herman, Gulsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, T...> ;American Journal of Human Genetics. 2021 Oct 7
• 4 citations
  Gene-Targeted Therapies in Pediatric Neurology: Challenges and Opportunities in Diagnosis and Delivery.
  Renée A. Shellhaas, Gabrielle deVeber, Joshua L. Bonkowsky, Erika F. Augustine, Alexander G. Bassuk, Daniel G. Calame, Melisa Carrasco, Nomazulu Dlamini, Ryan J. Felli...> ;Pediatric Neurology. 2021 Sep 25
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