Literature DB >> 33909211

Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation.

Cary M Wright1, Stephen J Guter1, Edwin H Cook2.   

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Year:  2021        PMID: 33909211     DOI: 10.1007/s10803-021-05032-6

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


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  10 in total

1.  De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

Authors:  Yizhou Ye; Megan T Cho; Kyle Retterer; Nora Alexander; Tawfeg Ben-Omran; Mariam Al-Mureikhi; Ingrid Cristian; Patricia G Wheeler; Carrie Crain; Dina Zand; Veronique Weinstein; Hilary J Vernon; Rebecca McClellan; Vidya Krishnamurthy; Patrik Vitazka; Francisca Millan; Wendy K Chung
Journal:  Cold Spring Harb Mol Case Stud       Date:  2015-10

2.  Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Authors:  Maria Lisa Dentici; Marcello Niceta; Francesca Pantaleoni; Sabina Barresi; Paola Bencivenga; Bruno Dallapiccola; Maria Cristina Digilio; Marco Tartaglia
Journal:  Am J Med Genet A       Date:  2017-05-07       Impact factor: 2.802

3.  Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Authors:  F Kyle Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; Grace Schwartz; Rachel Nguyen; Elizabeth E Guerrero; Caroline Dias; Catalina Betancur; Edwin H Cook; Louise Gallagher; Michael Gill; James S Sutcliffe; Audrey Thurm; Michael E Zwick; Anders D Børglum; Matthew W State; A Ercument Cicek; Michael E Talkowski; David J Cutler; Bernie Devlin; Stephan J Sanders; Kathryn Roeder; Mark J Daly; Joseph D Buxbaum
Journal:  Cell       Date:  2020-01-23       Impact factor: 41.582

4.  Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort.

Authors:  Eric Fombonne; LeeAnne Green Snyder; Amy Daniels; Pamela Feliciano; Wendy Chung
Journal:  J Autism Dev Disord       Date:  2020-10

5.  A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Authors:  Ryoko Fukai; Yoko Hiraki; Hiroko Yofune; Yoshinori Tsurusaki; Mitsuko Nakashima; Hirotomo Saitsu; Fumiaki Tanaka; Noriko Miyake; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2015-02-19       Impact factor: 3.755

Review 6.  The neurological aspects related to POGZ mutation: case report and review of CNS malformations and epilepsy.

Authors:  Debopam Samanta; Raghu Ramakrishnaiah; Bradley Schaefer
Journal:  Acta Neurol Belg       Date:  2019-03-16       Impact factor: 2.471

7.  Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Authors:  Holly A F Stessman; Marjolein H Willemsen; Michaela Fenckova; Osnat Penn; Alexander Hoischen; Bo Xiong; Tianyun Wang; Kendra Hoekzema; Laura Vives; Ida Vogel; Han G Brunner; Ineke van der Burgt; Charlotte W Ockeloen; Janneke H Schuurs-Hoeijmakers; Jolien S Klein Wassink-Ruiter; Connie Stumpel; Servi J C Stevens; Hans S Vles; Carlo M Marcelis; Hans van Bokhoven; Vincent Cantagrel; Laurence Colleaux; Michael Nicouleau; Stanislas Lyonnet; Raphael A Bernier; Jennifer Gerdts; Bradley P Coe; Corrado Romano; Antonino Alberti; Lucia Grillo; Carmela Scuderi; Magnus Nordenskjöld; Malin Kvarnung; Hui Guo; Kun Xia; Amélie Piton; Bénédicte Gerard; David Genevieve; Bruno Delobel; Daphne Lehalle; Laurence Perrin; Fabienne Prieur; Julien Thevenon; Jozef Gecz; Marie Shaw; Rolph Pfundt; Boris Keren; Aurelia Jacquette; Annette Schenck; Evan E Eichler; Tjitske Kleefstra
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.043

8.  Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.

Authors:  Kensuke Matsumura; Kaoru Seiriki; Shota Okada; Masashi Nagase; Shinya Ayabe; Ikuko Yamada; Tamio Furuse; Hirotoshi Shibuya; Yuka Yasuda; Hidenaga Yamamori; Michiko Fujimoto; Kazuki Nagayasu; Kana Yamamoto; Kohei Kitagawa; Hiroki Miura; Nanaka Gotoda-Nishimura; Hisato Igarashi; Misuzu Hayashida; Masayuki Baba; Momoka Kondo; Shigeru Hasebe; Kosei Ueshima; Atsushi Kasai; Yukio Ago; Atsuko Hayata-Takano; Norihito Shintani; Tokuichi Iguchi; Makoto Sato; Shun Yamaguchi; Masaru Tamura; Shigeharu Wakana; Atsushi Yoshiki; Ayako M Watabe; Hideyuki Okano; Kazuhiro Takuma; Ryota Hashimoto; Hitoshi Hashimoto; Takanobu Nakazawa
Journal:  Nat Commun       Date:  2020-02-26       Impact factor: 17.694

9.  POGZ truncating alleles cause syndromic intellectual disability.

Authors:  Janson White; Christine R Beck; Tamar Harel; Jennifer E Posey; Shalini N Jhangiani; Sha Tang; Kelly D Farwell; Zöe Powis; Nancy J Mendelsohn; Janice A Baker; Lynda Pollack; Kati J Mason; Klaas J Wierenga; Daniel K Arrington; Melissa Hall; Apostolos Psychogios; Laura Fairbrother; Magdalena Walkiewicz; Richard E Person; Zhiyv Niu; Jing Zhang; Jill A Rosenfeld; Donna M Muzny; Christine Eng; Arthur L Beaudet; James R Lupski; Eric Boerwinkle; Richard A Gibbs; Yaping Yang; Fan Xia; V Reid Sutton
Journal:  Genome Med       Date:  2016-01-06       Impact factor: 15.266

  10 in total
  1 in total

1.  Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Authors:  Dóra Nagy; Sarah Verheyen; Kristen M Wigby; Artem Borovikov; Artem Sharkov; Valerie Slegesky; Austin Larson; Christina Fagerberg; Charlotte Brasch-Andersen; Maria Kibæk; Ingrid Bader; Rebecca Hernan; Frances A High; Wendy K Chung; Jolanda H Schieving; Jana Behunova; Mateja Smogavec; Franco Laccone; Martina Witsch-Baumgartner; Joachim Zobel; Hans-Christoph Duba; Denisa Weis
Journal:  Genes (Basel)       Date:  2022-01-15       Impact factor: 4.141

  1 in total

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