SusanBrooksMD

PubMed

• Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
  Franziska Langhammer, Reza Maroofian, Rueda Badar, Anne Gregor, Michelle Rochman, Jeffrey B Ratliff, Marije Koopmans, Theresia Herget, Maja Hempel, Fanny Kortüm, Delph...> ;Genetics in Medicine. 2023 Aug 1
• 5 citations
  EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
  Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, S. A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Fa...> ;Orphanet Journal of Rare Diseases. 2021 Mar 18
• 4 citations
  Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
  Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Ste...> ;Molecular Genetics and Metabolism Reports. 2021 Mar 3
• 30 citations
  Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
  Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Wais...> ;The Journal of Clinical Investigation. 2020 Mar 2
• 6 citations
  Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
  Rachel D. Burnside, Sharon Molinari, Christina Botti, Susan Sklower Brooks, Wendy K. Chung, Lakshmi Mehta, Stuart Schwartz, Peter Papenhausen> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 4 citations
  Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
  Susan Sklower Brooks, Sharon Anderson, Vikram Bhise, Christina Botti> ;Journal of Child Neurology. 2018 Aug 8
• 7 citations
  Congenital Glucose–Galactose Malabsorption: A Case Report
  Sharon Anderson, Soula Koniaris, Baozhong Xin, Susan Sklower Brooks> ;Journal of Pediatric Health Care. 2017 Jul 1
• 2 citations
  A new finding of a tethered cord in a patient with Okamoto syndrome
  Fatu S. Conteh, Rachana Tyagi, Susan Sklower Brooks> ;Clinical Dysmorphology. 2017 Apr 1
• 7 citations
  An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome.
  Sharon Anderson, Susan Sklower Brooks> ;Advances in Neonatal Care. 2016 Oct 1
• 35 citations
  HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
  Michael J. Friez, Susan Sklower Brooks, Roger E. Stevenson, Michael Field, Monica J. Basehore, Lesley C. Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Sk...> ;BMJ Open. 2016 Apr 1
• 3 citations
  Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome.
  Sharon Anderson, Susan Sklower Brooks> ;Advances in Neonatal Care. 2015 Aug 1
• 72 citations
  A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans
  Susan S. Brooks, Alissa L. Wall, Christelle Golzio, David W. Reid, Amalia Kondyles, Jason R. Willer, Christina Botti, Christopher V. Nicchitta, Nicholas Katsanis, Eric...> ;Genetics. 2014 Oct 1
• 40 citations
  Congenital mirror movements Mutational analysis of RAD51 and DCC in 26 cases
  Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Isabelle Lagroua, Ana Westenberg...> ;Neurology. 2014 Jun 3
• 1 citations
  When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
  Sharon Anderson, Susan Sklower Brooks> ;Neonatal Network. 2013 Jul 1
• 10 citations
  Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet–Biedl syndrome
  Elena Ashkinadze, Todd Rosen, Susan Sklower Brooks, Nicholas Katsanis, Erica E. Davis> ;Clinical Genetics. 2013 Jun 1
• 3 citations
  Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening†
  Sharon Anderson, Christina Botti, Bo I. Li, James H. Millonig, Elaine Lyon, Alison Millson, Suzanne S.M. Karabin, Susan Sklower Brooks> ;American Journal of Medical Genetics. Part A. 2012 Sep 1
• 16 citations
  1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype
  Kosuke Izumi, Susan Sklower Brooks, Holly Feret, Elaine H. Zackai> ;American Journal of Medical Genetics. Part A. 2012 Jul 1
• 6 citations
  Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: a case series.
  Naomi Yachelevich, Julia K. Gittler, Susan Klugman, Barbara Feldman, Joanna Martin, Susan Sklower Brooks, Carl Dobkin, Sarah L. Nolin> ;American Journal of Medical Genetics. Part A. 2011 Apr 1
• 4 citations
  Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review.
  Surasak Puvabanditsin, Eugene Garrow, G Lambert, C Botti, S Gowda, S Kathiravan, S S Brooks> ;Genetic Counseling. 2011 Jan 1
• 45 citations
  New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish
  Deborah J. Morris-Rosendahl, Reeval Segel, A. Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron R...> ;European Journal of Human Genetics. 2010 May 26
• 33 citations
  Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
  Nan Zhong, E. Wisniewski, Jaana M. Hartikainen, Weina Ju, Dorota N. Moroziewicz, Lucille McLendon, Susan Sklower Brooks, W. Ted Brown> ;Clinical Genetics. 2008 Apr 23
• Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.
  Robert J. Wallerstein, Susan Sklower Brooks, Deanna Streck, Rohini Kurvathi, Gokce Altay Toruner> ;Cancer Genetics and Cytogenetics. 2007 Oct 15
• 14 citations
  Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature
  Monica M. Zherebtsov, Rachel T. Klein, Hana Aviv, Gokce Altay Toruner, Nazeeh Hanna, Susan Sklower Brooks> ;Clinical Dysmorphology. 2007 Jul 1
• 50 citations
  Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia.
  Edmund C. Jenkins, Milen Velinov, Lingling Ye, Hong Gu, Shu-Yun Li, Susan Sklower Brooks, Deborah Pang, Darlynne A. Devenny, Warren B. Zigman, Nicole Schupf, Wayne Sil...> ;Neurobiology of Aging. 2006 Jul 1
• 97 citations
  Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome
  Diane Beysen, Jeroen Raes, BP Leroy, Anneke Lucassen, John R.W. Yates, Jill Clayton-Smith, H. Ilyina, S. Sklower Brooks, Sophie Christin-Maitre, Marc Fellous, Jean Pie...> ;American Journal of Human Genetics. 2005 Aug 1
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Journal Articles

• Features of Feingold Syndrome 1 Dominate in Subjects with 2p Deletions Including MYCN  
  Susan Sklower Brooks, Lakshmi Mehta, Christina Botti, American Journal of Medical Genetics Part A