JudithRanellsMD

PubMed

• 14 citations
  Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2021 Nov 23
• 5 citations
  Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype
  Bertrand Isidor, Frédéric Ebstein, Anna C.E. Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy, Benjamin Cogné, Johannes A. Mayr, Anja Brehm, Caleb Bupp, Kathryn War...> ;Genetics in Medicine. 2021 Nov 1
• 29 citations
  Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
  Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Har...> ;Nature Communications. 2021 Feb 5
• 10 citations
  GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 May 1
• 2 citations
  Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 Apr 1
• 14 citations
  Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes inclu...
  Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D. Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, C. T. R....> ;Journal of Medical Genetics. 2020 Oct 1
• 25 citations
  Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
  Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengw...> ;Science Advances. 2019 Sep 25
• 150 citations
  GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects
  Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O. Heyne, Katherine L. Helbig, Sha Tang, Marcia C. W...> ;Journal of Medical Genetics. 2017 Jul 1
• 2 citations
  Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.
  Hagit N. Baris, Wai-Man Chan, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith D. Ranells, Tuya Pal, Azra H. Ligon, Elizabeth C. Engle> ;Clinical Case Reports. 2013 Oct 1
• 17 citations
  Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.
  Helga V. Toriello, Miriam Erick, Jean Luc Alessandri, Diana Bailey, Nicola Brunetti-Pierri, Helen Cox, Alan Fryer, Denise Marty, Charles Mccurdy, John B. Mulliken, Hel...> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 40 citations
  Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.
  Judith D. Ranells, Jane D. Carver, Russell S. Kirby> ;Advances in Pediatrics. 2011 Jan 1
• 8 citations
  Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops.
  Zoi Russell, Eftichia V. Kontopoulos, Rubén A. Quintero, David M. DeBauche, Judith D. Ranells> ;Fetal Diagnosis and Therapy. 2008 Sep 2
• 8 citations
  CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES
  Atilano Lacson, Gail Donaldson, Enid Gilbert Barness, Judith D. Ranells, Herbert H. Pomerance> ;Pediatric Pathology & Molecular Medicine. 2002 Nov 1
• 5 citations
  Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.
  Maxine J. Sutcliffe, O. Thomas Mueller, Boris G. Kousseff, Doris P. Dumont, Julia A. McFarland, Fayaz Mawani, Danielle Conforto, Judith D. Ranells> ;American Journal of Medical Genetics. 2001 Aug 1
• 21 citations
  Localization of the giant axonal neuropathy gene to chromosome 16q24
  Kevin M. Flanigan, Thomas O. Crawford, John W. Griffin, Hans H. Goebel, Alfried Kohlschütter, Judith D. Ranells, Peter Camfield, Louis J. Ptáček> ;Annals of Neurology. 1998 Jan 1
• 4 citations
  Lowry-Maclean syndrome does exist.
  Boris G. Kousseff, Judith D. Ranells> ;American Journal of Medical Genetics. 1994 Nov 15
• 14 citations
  45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.
  Mark J. Pettenati, Melissa Wheeler, D. J. Bartlett, I. Subrt, Nagesh Rao, R. L. Kroovand, Barbara K. Burton, Stephen G. Kahler, H. K. Park, P. Cosper, D. R. Kelly, Jud...> ;American Journal of Medical Genetics. 1991 Apr 1
• 7 citations
  Ocular and Systemic Findings in the Aarskog (Facial-digital-genital) Syndrome
  Michael C. Brodsky, Laura Davis Keppen, Charles D. Rice, Judith D. Ranells> ;American Journal of Ophthalmology. 1990 Apr 1
• Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children.
  Edwards, D. R., Keppen, L. D., Ranells, J. D., Gollin, S. M.> ;Neurotoxicology. 1988
• Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
  Morava, E., Lefeber, D. J., Urban, Z., de Meirleir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E....> ;Eur J Hum Genet. 2008 Jan
• Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
  Dutra, E. H., Chen, I. P., McGregor, T. L., Ranells, J. D., Reichenberger, E. J.> ;Clin Genet. 2012 Jan
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