Alice S Brooks

Alice S Brooks

UNVERIFIED PROFILE

Are you Alice S Brooks?   Register this Author

Register author
Alice S Brooks

Alice S Brooks

Publications by authors named "Alice S Brooks"

Are you Alice S Brooks?   Register this Author

37Publications

1266Reads

5Profile Views

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

[Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].

Ned Tijdschr Geneeskd 2018 11 26;162. Epub 2018 Nov 26.

Erasmus MC, afd. Klinische Genetica, Rotterdam.

View Article

Download full-text PDF

Source
November 2018

Diagnosing Alport Syndrome: Lessons from the Pediatric Ward.

Nephron 2018 13;140(3):203-210. Epub 2018 Sep 13.

Department of Pediatric Nephrology, Erasmus University Medical Center Rotterdam, Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492438DOI Listing
September 2018

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Gastroenterology 2018 07 28;155(1):118-129.e6. Epub 2018 Mar 28.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.03.034DOI Listing
July 2018

Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.

Hum Reprod 2017 02 5;32(2):299-306. Epub 2017 Jan 5.

Department for Health Evidence (133), Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/humrep/dew327DOI Listing
February 2017

Genetics of enteric neuropathies.

Dev Biol 2016 09 15;417(2):198-208. Epub 2016 Jul 15.

Department of Clinical Genetics, Erasmus University Medical Centre - Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2016.07.008DOI Listing
September 2016

Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis.

Transplantation 2016 07;100(7):e35-6

1 Leiden University Medical Center, Leiden, The Netherlands. Currently: Medical Centre Haaglanden, The Hague. 2 Sophia Childrens Hospital, Rotterdam, The Netherlands. 3 Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. 4 Erasmus Medical Centre, Rotterdam, The Netherlands. 5 Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. Currently: Tragel Zorg, Clinge, The Netherlands. 6 Sophia Childrens Hospital, Rotterdam, The Netherlands. 7 Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/TP.0000000000001210DOI Listing
July 2016

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

Int J Pediatr Otorhinolaryngol 2015 Jul 12;79(7):1164-70. Epub 2015 May 12.

Department of Neurology, Subdivision of Pediatric Neurology, The Netherlands; Department of Paediatrics, Subdivision of Neonatology, Erasmus MC Sophia, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2015.05.001DOI Listing
July 2015

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.22313
Publisher Site
http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

Genet Med 2013 Apr 4;15(4):310-3. Epub 2012 Oct 4.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.123DOI Listing
April 2013

Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.

Am J Med Genet A 2012 Nov 17;158A(11):2931-4. Epub 2012 Sep 17.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35611DOI Listing
November 2012

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

Pediatr Neurol 2011 Apr;44(4):303-7

Department of Paediatric Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2010.11.015DOI Listing
April 2011

KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

Hum Mol Genet 2010 Sep 9;19(18):3642-51. Epub 2010 Jul 9.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq280DOI Listing
September 2010

Two brothers with Goldberg-Shprintzen syndrome.

Clin Dysmorphol 2006 Jul;15(3):165-9

Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool, UK.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019605-200607000-000
Publisher Site
http://dx.doi.org/10.1097/01.mcd.0000204991.84861.c9DOI Listing
July 2006

Association of congenital diaphragmatic hernia with limb-reduction defects.

Birth Defects Res A Clin Mol Teratol 2003 Aug;67(8):578-84

Department of Pediatric Surgery, Erasmus Medical Center Sophia, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.10079DOI Listing
August 2003

Kabuki syndrome: a review study of three hundred patients.

Clin Dysmorphol 2002 Apr;11(2):95-102

Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
April 2002