Publications
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X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 ;22(3):353-67.
. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
. WormBase: a multi-species resource for nematode biology and genomics. Nucleic Acids Res. 2004 ;32(Database issue):D411-7.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
. Whole-Organ Genomic Characterization of Mucosal Field Effects Initiating Bladder Carcinogenesis. Cell Rep. 2019 ;26(8):2241-2256.e4.
. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 ;26(17):3442-3450.
. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 ;182(5):1143-1151.
. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 ;182(5):1143-1151.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
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Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 ;63(11):1119-1128.
. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
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