PatriciaG.WheelerMD

PubMed

• 9 citations
  MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
  Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frédéric Bilan, Gw...> ;Human Genetics. 2021 Nov 8
• 10 citations
  De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
  Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A. Eklund, Caterina Caputi, Laura Masuelli, Nicole Corsten-Janssen, Myriam Srour, Renske Oegema, Da...> ;Brain. 2021 Aug 11
• 10 citations
  Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
  Jennifer Morrison, Norah K. Altuwaijri, Kirsten Brønstad, Henriette Aksnes, Hessa S. Alsaif, Anthony Evans, Mais Hashem, Patricia G. Wheeler, Bryn D. Webb, Fowzan S. A...> ;Genetics in Medicine. 2021 Jul 6
• 20 citations
  Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
  Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M. A. van Ravenswaaij-Arts, Marwan ...> ;Genetics in Medicine. 2021 May 3
• Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
  Bryn D. Webb, Anthony Evans, Thomas P. Naidich, Lynne M. Bird, Sumit Parikh, Meilin Fernandez Garcia, Lindsay B. Henderson, Francisca Millan, Yue Si, Kristen J. Brenna...> ;Human Mutation. 2021 Apr 15
• 5 citations
  Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
  Fuad Chowdhury, Lei Wang, Mohammed Al-raqad, David J. Amor, A. Baxova, Sarka Bendova, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral...> ;Genetics in Medicine. 2021 Apr 6
• 6 citations
  Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
  Linda M. Reis, Deborah M. Costakos, Patricia G. Wheeler, Tanya Bardakjian, Adele Schneider, Simon S M Fung, Elena V. Semina> ;Clinical Genetics. 2021 Mar 1
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, ...
  Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Ma...> ;Genetics in Medicine. 2020 Apr 1
• 18 citations
  De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2020 Mar 1
• 8 citations
  Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), ...
  Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al-Kindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Kathe...> ;Genetics in Medicine. 2019 Sep 1
• 7 citations
  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
  Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill A Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-K...> ;Genetics in Medicine. 2019 Dec 1
• 1 citations
  Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H Rodan, Catherine B Nowak, Jessica Douglas, Kathryn J Swobo...> ;Nature Communications. 2019 May 2
• 1 citations
  Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
  Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, ...> ;Oncotarget. 2018 Nov 30
• 26 citations
  De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Plos Genetics. 2018 Nov 30
• 60 citations
  CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
  Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine Nowak, Jessica Douglas, Kathryn J. Swobo...> ;Nature Communications. 2018 Nov 5
• Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
  Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Géral...> ;Plos Genetics. 2018 Oct 26
• 34 citations
  The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
  Pleuntje J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherin...> ;Genetics in Medicine. 2019 Jun 1
• 18 citations
  Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.
  Tim Cundy, Michael Dray, John W. Delahunt, Jannie Dahl Hald, Bente L. Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L. Duncan, Aideen M. McInerney-Leo, P...> ;Journal of Bone and Mineral Research. 2018 Jul 1
• 11 citations
  A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
  Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie Claire Gubler, Géral...> ;Plos Genetics. 2018 May 16
• 36 citations
  WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
  Cara M. Skraban, Constance F. Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, P.Y. Billie Au, Amber Begtrup, John A. Bernat, Lynne M. Bird, Kajia Cao, Arjan P....> ;American Journal of Human Genetics. 2017 Jul 6
• 18 citations
  Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
  Bryn D. Webb, Sanjeeva Metikala, Patricia G. Wheeler, Mingma D. Sherpa, Sander M. Houten, Marko E. Horb, Eric E. Schadt> ;Human Mutation. 2017 Apr 1
• 21 citations
  SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
  Patricia G. Wheeler, Bobby G. Ng, Laura Sanford, V. Reid Sutton, Dennis Bartholomew, Matthew Pastore, Michael J. Bamshad, Martin Kircher, Kati J. Buckingham, Deborah A...> ;American Journal of Medical Genetics. Part A. 2016 Aug 2
• 28 citations
  Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features
  Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen...> ;Neurogenetics. 2016 Mar 22
• 44 citations
  De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly
  Yizhou Ye, Megan T. Cho, Kyle Retterer, Nora Alexander, Tawfeg Ben-Omran, Mariam Almureikhi, Ingrid Cristian, Patricia G. Wheeler, Carrie Crain, Dina J. Zand, Veroniqu...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
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