JulianAntonioMartinezMDPhD

PubMed

• Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
  Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W Frazier, Mustafa Sahin, Andrew Dhawan, Siddharth Srivastava, Sumit Parikh, Gary E Hsich, Neil R Fri...> ;Annals of Clinical and Translational Neurology. 2024 Mar 19
• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• 2 citations
  Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
  Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania ...> ;Genetics in Medicine. 2023 Nov 1
• Updates to the Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda.
  Emily Hotez, Madeline Haley, Julian A Martinez-Agosto, Jeffrey Anderson, Heather Brown, Kristen Choi, Lisa A Croen, Patrick Dwyer, Priyanka Fernandes, Dena Gassner, Mo...> ;Cureus. 2023 Aug 1
• 1 citations
  Ethical challenges in autism genomics: Recommendations for researchers.
  Heini M Natri, Carolyn R Chapman, Síofra Heraty, Patrick Dwyer, Nick Walker, Steven K Kapp, Heather A Dron, Julian A Martinez-Agosto, Lea Mikkola, Mary Doherty> ;European Journal of Medical Genetics. 2023 Sep 1
• An unusual presentation of bilateral optic pathway glioma in Crouzon Syndrome.
  Brian Na, Anthony C Wang, Christopher Travis Watterson, Julian Martinez-Agosto, Sulagna Saitta, Marina Dutra-Clarke, Franceska Bhansali, Stacy L Pineles, Vivian Y Chan...> ;Pediatric Hematology and Oncology. 2023 Jan 1
• 15 citations
  Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
  Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John Douglas Burke, Matthew R. Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pasc...> ;American Journal of Human Genetics. 2018 Dec 6
• A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
  Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG, Undiagnosed Diseases Network, Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashle...> ;Journal of genetic counseling.
• 10 citations
  Next generation sequencing in clinical diagnosis.
  Hane Lee, Julian A. Martinez-Agosto, Jessica E. Rexach, Brent L. Fogel> ;The Lancet. Neurology. 2019 May 1
• De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
  Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, Undiagnosed Diseases Networ...> ;American journal of human genetics.
• Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
  Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolki...> ;Genetics in medicine : official journal of the American College of Medical Genetics.
• Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
  Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, ...> ;Genetics in medicine : official journal of the American College of Medical Genetics.
• The Role of Genetic Testing Among Autistic Individuals.
  Iram Shafqat, Kashia A Rosenau, Julian A Martinez-Agosto> ;Pediatrics. 2022 Apr 1
• The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
  Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P,...> ;Human molecular genetics.
• A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
  Srivastava S, Jo B, Zhang B, Frazier T, Gallagher AS, Peck F, Levin AR, Mondal S, Li Z, Filip-Dhima R, Geisel G, Dies KA, Diplock A, Eng C, Hanna R, Sahin M, Hardan A,...> ;Human molecular genetics.
• Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
  Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahid...> ;Brain : a journal of neurology.
• SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
  Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Co...> ;Brain : a journal of neurology.
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
  Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, ...> ;Annals of clinical and translational neurology. 2023-05-16
• 3 citations
  Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
  Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cro...> ;American Journal of Medical Genetics. Part A. 2023 Jul 1
• Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
  Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le G...> ;American journal of human genetics. 2023-04-12
• Participation in a national diagnostic research study: assessing the patient experience.
  Rosenfeld LE, LeBlanc K, Nagy A, Ego BK, Undiagnosed Diseases Network, McCray AT> ;Orphanet journal of rare diseases. 2023-04-10
• Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
  McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Undiagnosed Diseases Network, Hooper SR, Shashi V> ;Journal of genetic counseling. 2023-04-02
• H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
  Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Undiagnosed Diseases Network, Bademci G, Tekin M> ;American journal of medical genetics. Part A. 2023-03-29
• 1 citations
  Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation.
  Judith Fan, T Niroshini Senaratne, Jason Y Liu, Michelle Bina, Julian A Martinez-Agosto, Fabiola Quintero-Rivera, Jessica J Wang> ;BMC Medical Genomics. 2023 Mar 29
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
  Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Undiagnosed Disease...> ;NPJ genomic medicine. 2023-02-10
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