Literature DB >> 29053797

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Cacha M P C D Peeters-Scholte1, Phebe N Adama van Scheltema2, Frans J C M Klumper2, Sheila M P Everwijn2, Marije Koopmans3, Mariette J V Hoffer3, Tamara T Koopmann3, Claudia A L Ruivenkamp3, Sylke J Steggerda4, Marjo S van der Knaap5, Gijs W E Santen3.   

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Year:  2017        PMID： 29053797     DOI： 10.1093/brain/awx239

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  7 in total

1.  Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Authors:  Ann E Frazier; Alison G Compton; Yoshihito Kishita; Daniella H Hock; AnneMarie E Welch; Sumudu S C Amarasekera; Rocio Rius; Luke E Formosa; Atsuko Imai-Okazaki; David Francis; Min Wang; Nicole J Lake; Simone Tregoning; Jafar S Jabbari; Alexis Lucattini; Kazuhiro R Nitta; Akira Ohtake; Kei Murayama; David J Amor; George McGillivray; Flora Y Wong; Marjo S van der Knaap; R Jeroen Vermeulen; Esko J Wiltshire; Janice M Fletcher; Barry Lewis; Gareth Baynam; Carolyn Ellaway; Shanti Balasubramaniam; Kaustuv Bhattacharya; Mary-Louise Freckmann; Susan Arbuckle; Michael Rodriguez; Ryan J Taft; Simon Sadedin; Mark J Cowley; André E Minoche; Sarah E Calvo; Vamsi K Mootha; Michael T Ryan; Yasushi Okazaki; David A Stroud; Cas Simons; John Christodoulou; David R Thorburn
Journal:  Med (N Y)       Date:  2020-07-09

2.  Prenatal exome sequencing: A useful tool for the fetal neurologist.

Authors:  Maayke A de Koning; Mariëtte J V Hoffer; Esther A R Nibbeling; Emilia K Bijlsma; Menno J P Toirkens; Phebe N Adama-Scheltema; E Joanne Verweij; Marieke B Veenhof; Gijs W E Santen; Cacha M P C D Peeters-Scholte
Journal:  Clin Genet       Date:  2021-10-19       Impact factor: 4.296

3.  A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome.

Authors:  Ilana Hanes; Hugh J McMillan; Yoko Ito; Kristin D Kernohan; Joanna Lazier; Matthew A Lines; David A Dyment
Journal:  Neurol Genet       Date:  2020-06-03

4.  Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.

Authors:  Zheng Yie Yap; Yo Han Park; Saskia B Wortmann; Adam C Gunning; Shlomit Ezer; Sukyeong Lee; Lita Duraine; Ekkehard Wilichowski; Kate Wilson; Johannes A Mayr; Matias Wagner; Hong Li; Usha Kini; Emily Davis Black; Kristin G Monaghan; James R Lupski; Sian Ellard; Dominik S Westphal; Tamar Harel; Wan Hee Yoon
Journal:  Genome Med       Date:  2021-04-12       Impact factor: 11.117

5.  Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.

Authors:  Tomohiro Ebihara; Taro Nagatomo; Yohei Sugiyama; Tomoko Tsuruoka; Yoshiteru Osone; Masaru Shimura; Makiko Tajika; Keiko Ichimoto; Yuki Naruke; Nana Akiyama; Sze Chern Lim; Yukiko Yatsuka; Kazuhiro R Nitta; Yoshihito Kishita; Takuya Fushimi; Atsuko Okazaki; Akira Ohtake; Yasushi Okazaki; Kei Murayama
Journal:  Mol Genet Metab Rep       Date:  2022-08-24

Review 6.  What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Authors:  Tessa van Dijk; Frank Baas; Peter G Barth; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2018-06-15       Impact factor: 4.123

7.  Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Authors:  Adam C Gunning; Klaudia Strucinska; Mikel Muñoz Oreja; Andrew Parrish; Richard Caswell; Karen L Stals; Romina Durigon; Karina Durlacher-Betzer; Mitchell H Cunningham; Christopher M Grochowski; Julia Baptista; Carolyn Tysoe; Emma Baple; Nayana Lahiri; Tessa Homfray; Ingrid Scurr; Catherine Armstrong; John Dean; Uxoa Fernandez Pelayo; Aleck W E Jones; Robert W Taylor; Vinod K Misra; Wan Hee Yoon; Caroline F Wright; James R Lupski; Antonella Spinazzola; Tamar Harel; Ian J Holt; Sian Ellard
Journal:  Am J Hum Genet       Date:  2020-01-30       Impact factor: 11.025
  7 in total

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