CarlosRaulFerreira LopezMD

PubMed

• 54 citations
  Nosology of genetic skeletal disorders: 2023 revision.
  Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Débora R Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta M Girisha, Christine Hall, ...> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 3 citations
  Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation...
  Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, ...> ;Genetics in Medicine. 2023 Jan 1
• 3 citations
  Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.
  Jennifer E Powel, Catherine E Sham, Michail Spiliopoulos, Carlos R Ferreira, Emily Rosenthal, Shannon Brown, Angie C Jelin, Huda B Al-Kouatly, Elena S Sinkovskaya> ;Clinical Genetics. 2022 Oct 1
• 1 citations
  De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
  Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson, Xin Wang, Lindsay Rhodes, Kathleen Brown, Tamas Balla, Austin Larson> ;American Journal of Medical Genetics. Part A. 2022 Jun 1
• 2 citations
  Response to Stern et al.
  Shira G. Ziegler, Carlos Ferreira> ;Genetics in Medicine. 2021 Jun 16
• 10 citations
  Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
  Sarah Debs, Carlos Ferreira, Catherine Groden, H. Jeffrey Kim, Kelly A. King, Monique C King, Tanya J. Lehky, Edward W. Cowen, Laura H Brown, Melissa A. Merideth, C.M....> ;American Journal of Medical Genetics. Part A. 2021 Jun 4
• 5 citations
  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
  Ombrello, A. K., Francis Rossignol, Marvid S. Duarte Moreno, Jean-François Benoist, Manfred Boehm, Emmanuelle Bourrat, Aline Cano, Brigitte Chabrol, Claudine Cosson, J...> ;Genetics in Medicine. 2021 May 26
• 11 citations
  DDX58 (RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
  , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Journal of Medical Genetics. 2021 Jan 25
• 5 citations
  Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23.
  Pablo Florenzano, Macarena Jiménez, Carlos Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis F de Castro, Rachel I Gafni, Myles Wolf, Harald Jüppn...> ;Journal of the American Society of Nephrology. 2020 Jul 6
• 6 citations
  Defining the clinical phenotype of Saul-Wilson syndrome.
  Carlos Ferreira, Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth I. Berger, William G. Wilson, George E. Tiller, Lynne A. Wolfe, Melissa A. Merideth, Daniel R. Ca...> ;Genetics in Medicine. 2020 Jan 17
• 10 citations
  Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
  Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Güzel Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, ...> ;Bone. 2020 Jan 7
• 9 citations
  Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.
  Howard J. Li, Catherine Groden, Melanie P. Hoenig, Evan C. Ray, Carlos Ferreira, W.A. Gahl, Danica Novacic> ;BMC Nephrology. 2019 Sep 9
• 14 citations
  Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
  Orna Staretz-Chacham, Rachel Shukrun, Ortal Barel, Ben Pode-Shakked, Oren Pleniceanu, Yair Anikster, Nechama Shalva, Carlos Ferreira, Ben-Haim Kadosh A, Richardson J, ...> ;American Journal of Medical Genetics. Part A. 2019 Aug 24
• 81 citations
  Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
  Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, Takanori Yokota, Satoru Ishibashi, Yoichiro Nishida, Guilherme L. Yamamoto, José Francisco...> ;American Journal of Human Genetics. 2019 May 2
• 13 citations
  Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising
  Bradley Power, Carlos Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O'Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan...> ;Orphanet Journal of Rare Diseases. 2019 Feb 21
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 31 citations
  DDX58 and Classic Singleton-Merten Syndrome
  Carlos Ferreira, Yanick J. Crow, William A. Gahl, Pamela J. Gardner, Raphaela Goldbach-Mansky, Sun Hur, Adriana Almeida de Jesus, Michele Nehrebecky, Ji Woo Park, Trac...> ;Journal of Clinical Immunology. 2019 Jan 15
• 35 citations
  Inborn errors of metabolism
  Carlos Ferreira, Clara D.M. van Karnebeek> ;Handbook of Clinical Neurology. 2019 Jan 1
• 7 citations
  Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.
  Monica N. Valentin, Benjamin D. Solomon, Gabriele Richard, Carlos Ferreira, Anna Yasmine Kirkorian> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
• 15 citations
  Skeletal Consequences of Nephropathic Cystinosis.
  Pablo Florenzano, Carlos Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis F de Castro, Sydney M Brown, Adom Whitaker, Renata C. Pereira, Dorothy ...> ;Journal of Bone and Mineral Research. 2018 Oct 1
• 62 citations
  Recognizable phenotypes in CDG
  Carlos Ferreira, Ruqaia Altassan, Dorinda Marques-da-Silva, Rita Francisco, Jaak Jaeken, Eva Morava> ;Journal of Inherited Metabolic Disease. 2018 May 1
• 23 citations
  Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
  Patricia L. Hall, Christina Lam, John J. Alexander, Ghazia Asif, Gerard T. Berry, Carlos Ferreira, Hudson H. Freeze, William A. Gahl, Kim K. Nickander, Jon D. Sharer, ...> ;Molecular Genetics and Metabolism. 2018 May 1
• 37 citations
  A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency
  May Christine V. Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C. Chandrasekharappa, Car...> ;Human Mutation. 2018 Jan 1
• 57 citations
  Noonan syndrome in diverse populations
  Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K.C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-...> ;American Journal of Medical Genetics. Part A. 2017 Jul 27
• 75 citations
  Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase
  Shira G. Ziegler, Carlos Ferreira, Elena Gallo MacFarlane, Ryan C. Riddle, Ryan E. Tomlinson, Emily Y. Chew, Ludovic Martin, Chen Ting Ma, Eduard Sergienko, Anthony B....> ;Science Translational Medicine. 2017 Jun 7
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