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| 31110711 | Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome. | Clin Case Rep | 2019 |
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| 29851065 | A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. | Clin Genet | 2018 |
| 27236920 | A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. | Am J Hum Genet | 2016 |
| 26377682 | Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. | Am J Med Genet A | 2016 |
| 27124303 | Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. | PLoS One | 2016 |
| 26026149 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. | Elife | 2015 |
| 24726473 | Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. | Am J Hum Genet | 2014 |
| 29252299 | Tumor-Induced Rickets Presenting in an Adolescent: A Case Report and Review of the Literature. | JBJS Case Connect | 2014 |
| 23354975 | Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. | Hum Genet | 2013 |
| 24214728 | Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. | Am J Med Genet A | 2013 |
| 23542699 | Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. | Nat Genet | 2013 |
| 22095942 | Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. | Hum Mutat | 2012 |
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| 21744490 | Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. | Am J Med Genet A | 2011 |
| 21492294 | 16 month-old female with intraventricular mass. | Brain Pathol | 2011 |
| 21271650 | Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. | Am J Med Genet A | 2011 |
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| 19574260 | Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | J Med Genet | 2010 |
| 19915453 | Diagnosing xeroderma pigmentosum group C by immunohistochemistry. | Am J Dermatopathol | 2010 |
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| 19537283 | Limb hyperplasia: case report of an unusual variant of Klippel-Trenaunay syndrome and review of the literature. | Cutis | 2009 |
| 17947367 | Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency. | AJNR Am J Neuroradiol | 2008 |
| 18925668 | A new hypothesis of OCA1B. | Am J Med Genet A | 2008 |
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| 18798318 | Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. | Am J Med Genet A | 2008 |
| 18989166 | Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome. | J Pediatr Hematol Oncol | 2008 |
| 18629878 | Pierre Robin sequence associated with first trimester fetal tamoxifen exposure. | Am J Med Genet A | 2008 |
| 17036318 | Deaths due to choking in Prader-Willi syndrome. | Am J Med Genet A | 2007 |
| 18000912 | Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. | Am J Med Genet A | 2007 |
| 16896922 | Clinical and molecular genetic features of ARC syndrome. | Hum Genet | 2006 |
| 16770802 | Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. | Am J Med Genet A | 2006 |
| 16737888 | Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder. | J Pediatr | 2006 |
| 15747104 | Mucocutaneous squamous papilloma with reactive lymphoid hyperplasia in two patients with focal dermal hypoplasia. | Pediatr Dev Pathol | 2005 |
| 16086394 | Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. | Am J Med Genet A | 2005 |
| 14699614 | Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. | Am J Med Genet A | 2004 |
| 15286229 | Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. | Pediatrics | 2004 |
| 12833395 | Athabascan brainstem dysgenesis syndrome. | Am J Med Genet A | 2003 |
| 12970646 | Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. | J Pediatr | 2003 |
| 14556250 | Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion. | Am J Med Genet A | 2003 |
| 12673665 | Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. | Am J Med Genet A | 2003 |
| 11754063 | Hydranencephaly in an infant with vascular malformations. | Am J Med Genet | 2001 |
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