DavutPehlivanMD

PubMed

• Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
  Tugce Bozkurt-Yozgatli, Richard A Gibbs, Ugur Sezerman, Jennifer E Posey, Zeynep Coban-Akdemir, Davut Pehlivan, James R Lupski> ;BMC Medical Genomics. 2024 Apr 16
• Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
  Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie...> ;Brain. 2024 Apr 4
• A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis.
  Troy A Webber, Cemal Karakas, Isabella Herman, Stephen F Kralik, Danielle S Takacs, Saleh Bhar, Davut Pehlivan> ;Pediatric Neurology. 2024 Mar 26
• 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
• Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.
  Bernhard Suter, Davut Pehlivan, Muharrem Ak, Holly K Harris, Ariel M Lyons-Warren> ;Autism Research. 2024 Apr 1
• 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
• Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.
  Davut Pehlivan, Sukru Aras, Daniel G Glaze, Muharrem Ak, Bernhard Suter, Kathleen J Motil> ;Orphanet Journal of Rare Diseases. 2024 Feb 9
• Loss of symmetric cell division of apical neural progenitors drives-related developmental and epileptic encephalopathy.
  Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Levesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem ...> ;Medrxiv. 2024 Jan 31
• Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2.
  Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonj...> ;Nature Biotechnology. 2024 Jan 22
• 9 citations
  Detection of mosaic and population-level structural variants with Sniffles2.
  Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonj...> ;Nature Biotechnology. 2024 Jan 2
• MECP2-related disorders while gene-based therapies are on the horizon.
  Allison, K., Maletic-Savatic, M., Pehlivan, D.> ;Frontiers in Genetics. 2024 Jan 1
• 2 citations
  HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
  Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici,...> ;Nucleic Acids Research. 2024 Feb 28
• Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.
  Mendonca, D., Cappuccio, G., Sheppard, J., Delacruz, M., Bengtsson, J., Carvalho, C., Bajic, A., Park, H., Kim, J., Jafar-Nejad, P., Coquery, C., Pehlivan, D., Suter, ...> ;Stem Cell Research. 2024 Feb 1
• 1 citations
  Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
  Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shah...> ;Journal of Inherited Metabolic Disease. 2023 Nov 1
• 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
• 2 citations
  Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
  Morales-Rosado, J. A., Morales-Rosado, J. A., Joel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, A Reghan Foley, Filippo Pinto E Vairo, Davut Pehlivan, San...> ;American Journal of Human Genetics. 2023 Jun 1
• 1 citations
  Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
  Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N Jhangiani, Richard A Gibbs, Davut Pehlivan, Daniel G Calame, Jenni...> ;Clinical Genetics. 2023 Sep 1
• 4 citations
  Exploring gastrointestinal health in MECP2 duplication syndrome.
  Davut Pehlivan, Muharrem Ak, Daniel G Glaze, Bernhard Suter, Kathleen J Motil> ;Neurogastroenterology and Motility. 2023 Aug 1
• 3 citations
  Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
  Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Ales...> ;American Journal of Human Genetics. 2023 Apr 6
• Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
  Felix Boschann, Ozgur Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M Grochowski, Nils R Hansmeier, Zeynep H Coban Akdemir, Cesar ...> ;Genetics in Medicine. 2023 May 1
• 3 citations
  The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
  Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, S...> ;Brain. 2023 Aug 1
• 1 citations
  Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
  Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M R Taylor, Jennifer A Sullivan, Ayat N Asleh, Jaba Mitra, Mohamad A Dar, Amy McNam...> ;American Journal of Human Genetics. 2023 Mar 2
• A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
  Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowe...> ;American Journal of Medical Genetics. Part A. 2023 Mar 1
• 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
• 3 citations
  TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
  Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina...> ;American Journal of Human Genetics. 2022 Dec 1
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Journal Articles

• Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies  
  Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature