Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome

JOURNAL ARTICLE published November 2020 in Journal of Medical Genetics

Research funded by Rett Syndrome Research Trust (Outlining the Autonomic Signature of Rett Syndrome)

Authors: Michael Sean Carroll | Jan-Marino Ramirez | Debra E Weese-Mayer

Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans

JOURNAL ARTICLE published 10 February 2024 in Journal of Medical Genetics

Research funded by National Key R&D Program of China (2021YFC2700901) | National Natural Science Foundation of China (81971441,82171607,82201834) | Research Fund of Anhui Institute of Translational Medicine (ZHYX2020A001) | Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences (2019PT310002) | Natural Science Foundation of Anhui Province (2208085QH233) | Basic and Clinical Cooperative Research promotion Program of Anhui Medical University (2021xkjT030)

Authors: Rui Guo | Huan Wu | Xiaoyu Zhu | Guanxiong Wang | Kaiqin Hu | Kuokuo Li | Hao Geng | Chuan Xu | Chenwan Zu | Yang Gao | Dongdong Tang | Yunxia Cao | Xiaojin He

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

JOURNAL ARTICLE published July 2013 in Journal of Medical Genetics

Authors: Ranad Shaheen | Shinu Ansari | Muneera J Alshammari | Hisham Alkhalidi | Hadeel Alrukban | Wafaa Eyaid | Fowzan S Alkuraya

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma

JOURNAL ARTICLE published February 2020 in Journal of Medical Genetics

Research funded by National Health and Medical Research Council of Australia (APP1072476) | Australia Awards (Endeavour Fellowship) | Jack Brockhoff Foundation (JBF 4186, 2016) | University of Melbourne (Department of Biochemistry and Molecular Biology) | KWF Kankerbestrijding (2011-5025)

Authors: Jean Pierre Bayley | Birke Bausch | Johannes Adriaan Rijken | Leonie Theresia van Hulsteijn | Jeroen C Jansen | David Ascher | Douglas Eduardo Valente Pires | Frederik J Hes | Erik F Hensen | Eleonora P M Corssmit | Peter Devilee | Hartmut P H Neumann

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

JOURNAL ARTICLE published March 2013 in Journal of Medical Genetics

Authors: Christopher T Gordon | Alice Vuillot | Sandrine Marlin | Erica Gerkes | Alex Henderson | Adila AlKindy | Muriel Holder-Espinasse | Sarah S Park | Asma Omarjee | Mateo Sanchis-Borja | Eya Ben Bdira | Myriam Oufadem | Birgit Sikkema-Raddatz | Alison Stewart | Rodger Palmer | Ruth McGowan | Florence Petit | Bruno Delobel | Michael R Speicher | Paul Aurora | David Kilner | Philippe Pellerin | Marie Simon | Jean-Paul Bonnefont | Edward S Tobias | Sixto García-Miñaúr | Maria Bitner-Glindzicz | Pernille Lindholm | Brigitte A Meijer | Véronique Abadie | Françoise Denoyelle | Marie-Paule Vazquez | Christa Rotky-Fast | Vincent Couloigner | Sébastien Pierrot | Yves Manach | Sylvain Breton | Yvonne M C Hendriks | Arnold Munnich | Linda Jakobsen | Peter Kroisel | Angela Lin | Leonard B Kaban | Lina Basel-Vanagaite | Louise Wilson | Michael L Cunningham | Stanislas Lyonnet | Jeanne Amiel

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

JOURNAL ARTICLE published 1 May 2011 in Journal of Medical Genetics

Authors: E. M. Parry | J. K. Alder | S. S. Lee | J. A. Phillips | J. E. Loyd | P. Duggal | M. Armanios

The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes

JOURNAL ARTICLE published March 2015 in Journal of Medical Genetics

Authors: Aoife M Waters | Rowan Asfahani | Paula Carroll | Louise Bicknell | Francesco Lescai | Alison Bright | Estelle Chanudet | Anthony Brooks | Sonja Christou-Savina | Guled Osman | Patrick Walsh | Chiara Bacchelli | Ariane Chapgier | Bertrand Vernay | David M Bader | Charu Deshpande | Mary O’ Sullivan | Louise Ocaka | Horia Stanescu | Helen S Stewart | Friedhelm Hildebrandt | Edgar Otto | Colin A Johnson | Katarzyna Szymanska | Nicholas Katsanis | Erica Davis | Robert Kleta | Mike Hubank | Stephen Doxsey | Andrew Jackson | Elia Stupka | Mark Winey | Philip L Beales

Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus

JOURNAL ARTICLE published June 2017 in Journal of Medical Genetics

Authors: F Yesim Demirci | Xingbin Wang | David L Morris | Eleanor Feingold | Sasha Bernatsky | Christian Pineau | Ann Clarke | Rosalind Ramsey-Goldman | Susan Manzi | Timothy J Vyse | M Ilyas Kamboh

Meiotic chromatid recombination and segregation assessed with human single cell genome sequencing data

JOURNAL ARTICLE published March 2019 in Journal of Medical Genetics

Authors: Jun-Yu Ma | Li-Ying Yan | Zhen-Bo Wang | Shi-Ming Luo | William S B Yeung | Xiang-Hong Ou | Qing-Yuan Sun | Jie Qiao

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta

JOURNAL ARTICLE published 1 April 2010 in Journal of Medical Genetics

Authors: D. Marchington | S. Malik | A. Banerjee | K. Turner | D. Samuels | V. Macaulay | P. Oakeshott | C. Fratter | S. Kennedy | J. Poulton

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

JOURNAL ARTICLE published 18 March 2008 in Journal of Medical Genetics

Authors: J D Stewart | S Tennant | H Powell | A Pyle | E L Blakely | L He | G Hudson | M Roberts | D du Plessis | D Gow | L D Mewasingh | M G Hanna | S Omer | A A Morris | R Roxburgh | J H Livingston | R McFarland | D M Turnbull | P F Chinnery | R W Taylor

"New microdeletion syndromes: complex, but no new paradigms"

JOURNAL ARTICLE published 1 August 2009 in Journal of Medical Genetics

Authors: D H Ledbetter

Phenotype-genotype correlation in a familial IGF1R microdeletion case

JOURNAL ARTICLE published 1 July 2010 in Journal of Medical Genetics

Authors: D. C. M. Veenma | H. J. Eussen | L. C. P. Govaerts | S. W. K. de Kort | R. J. Odink | C. H. Wouters | A. C. S. Hokken-Koelega | A. de Klein

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs  coding mutations and GNAS imprinting defects

JOURNAL ARTICLE published 1 April 2010 in Journal of Medical Genetics

Authors: B. Lecumberri | E. Fernandez-Rebollo | L. Sentchordi | P. Saavedra | A. Bernal-Chico | L. F. Pallardo | J. M. J. Bustos | L. Castano | M. de Santiago | O. Hiort | G. Perez de Nanclares | M. Bastepe

Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

JOURNAL ARTICLE published September 2022 in Journal of Medical Genetics

Research funded by TSC Alliance (FY2020 TSC Alliance Postdoctoral Fellowship Award) | Engles Family Fund for Research in TSC and LAM (Engles Family Fund for Research in TSC and LAM)

Authors: Katarzyna Klonowska | Elizabeth A Thiele | Joannes M Grevelink | Aaron R Thorner | David J Kwiatkowski

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues

JOURNAL ARTICLE published 1 July 2011 in Journal of Medical Genetics

Authors: M. M. Axford | A. Lopez-Castel | M. Nakamori | C. A. Thornton | C. E. Pearson

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

JOURNAL ARTICLE published 1 February 2011 in Journal of Medical Genetics

Authors: D. P. Cavalcanti | C. Huber | K.-H. Le Quan Sang | G. Baujat | F. Collins | A.-L. Delezoide | N. Dagoneau | M. Le Merrer | J. Martinovic | M. F. S. Mello | M. Vekemans | A. Munnich | V. Cormier-Daire

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

JOURNAL ARTICLE published March 2017 in Journal of Medical Genetics

Authors: Daniel Z Bar | Martin F Arlt | Joan F Brazier | Wendy E Norris | Susan E Campbell | Peter Chines | Delphine Larrieu | Stephen P Jackson | Francis S Collins | Thomas W Glover | Leslie B Gordon

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly

JOURNAL ARTICLE published September 2014 in Journal of Medical Genetics

Authors: David Gillis | Aiswarya Krishnamohan | Barak Yaacov | Avraham Shaag | Jane E Jackman | Orly Elpeleg

Systematic reanalysis of copy number losses of uncertain clinical significance

JOURNAL ARTICLE published 11 April 2024 in Journal of Medical Genetics

Authors: George J Burghel | Jamie M Ellingford | Ronnie Wright | Lauren Bradford | Jake Miller | Christopher Watt | Jonathan Edgerley | Farah Naeem | Siddharth Banka