Susan Winter
Boston Children's Hospital
ExcretionGeneInternal medicinePhenotypeEndocrinologyEtiologyExome sequencingChemistryPediatricsBlood plasmaCarnitineCardiomyopathyPregnancyUrineIn patientExonGestationGeneticsIntellectual disabilityBiochemistryMedicineBiologyPyruvate dehydrogenase complex
Publications 19
#1Samin A. SajanH-Index: 6
#2Jaya Ganesh (Cooper University Hospital)H-Index: 16
Last. Sha TangH-Index: 18
view all 8 authors...
Background During mouse embryonic development the protein kinase domain containing, cytoplasmic (Pkdcc) gene, also known as Vlk, is expressed in several tissues including the ventral midbrain, with particularly strong expression in branchial arches and limb buds. Homozygous Pkdcc knockout mice have dysmorphic features and shortened long bones as the most obvious morphological abnormalities. The human PKDCC gene has currently not been associated with any disorders. Objective To use clinical diagn...
2 CitationsSource
#1Ganka Douglas (GeneDx)H-Index: 14
#2Megan T. Cho (GeneDx)H-Index: 31
Last. Jane Juusola (GeneDx)H-Index: 23
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: Gross deletions involving the MEIS2 gene have been described in a small number of patients with overlapping phenotypes of atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. Non-specific dysmorphic features were noted in some patients, including broad forehead with high anterior hairline, arched eyebrows, thin or tented upper lip, and short philtrum. Recently, a patient with a de novo single amino acid deletion, c.998_1000delGAA (p...
9 CitationsSource
#1Benjamin M. Helm (IU: Indiana University)H-Index: 7
#2Zöe PowisH-Index: 19
Last. Samantha A. Schrier Vergano (EVMS: Eastern Virginia Medical School)H-Index: 15
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While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndr...
9 CitationsSource
#1Ajai Khanna (Cleveland Clinic)H-Index: 20
#2Robert G. Gish (Stanford University)H-Index: 76
Last. Bruce Barshop (UCSD: University of California, San Diego)H-Index: 34
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Liver transplantation has been reported in patients with methylmalonic acidemia (MMA), but long-term outcome is controversial. Many patients with other approved indications for liver transplantation die before donor grafts are available. A 28-year-old man with MMA underwent cadaveric liver transplantation. His liver was used as a domino graft for a 61-year-old man with primary sclerosing cholangitis, who had low priority on the transplant waiting list. Surgical outcome was successful, and after ...
11 CitationsSource
#1Sandesh C.S. Nagamani (BCM: Baylor College of Medicine)H-Index: 31
#2Ayelet Erez (BCM: Baylor College of Medicine)H-Index: 34
Last. Sau Wai Cheung (BCM: Baylor College of Medicine)H-Index: 57
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Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients with small CNVs ranging in size between 133–319 kb that disrupt AUTS2. Two patients ...
45 CitationsSource
#1Alex R. Paciorkowski (URMC: University of Rochester Medical Center)H-Index: 23
#2Ryan N. Traylor (PerkinElmer)H-Index: 10
Last. Eric D. Marsh (Children's Hospital of Philadelphia)H-Index: 30
view all 21 authors...
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3. We detail the neurobehavioral phenotype, epilepsy, and abnormal movements, and compare our subjects with those previously reported in the literature. We also investigate Mef2c expression in the developin...
64 CitationsSource
#1William Christopher Lang (IU: Indiana University)H-Index: 2
#2Neil R. M. Buist (OHSU: Oregon Health & Science University)H-Index: 28
Last. Brian R. Rogers (OHSU: Oregon Health & Science University)H-Index: 1
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We report quantitative measurements of ten parameters of nutritive sucking behavior in 91 normal full-term infants obtained using a novel device (an Orometer) and a data collection/analytical system (Suck Editor). The sucking parameters assessed include the number of sucks, mean pressure amplitude of sucks, mean frequency of sucks per second, mean suck interval in seconds, sucking amplitude variability, suck interval variability, number of suck bursts, mean number of sucks per suck burst, mean s...
14 CitationsSource
#1Susan WinterH-Index: 15
Last. Neil R. M. BuistH-Index: 28
view all 3 authors...
Summary: Carnitine deficiency is a secondary complication of many inborn errors of metabolism. Pharmacological treatment with carnitine not only corrects the deficiency, it facilitates removal of accumulating toxic acyl intermediates and the generation of mitochondrial free coenzyme A (CoA). The United States Food and Drug Administration (US FDA) approved the use of carnitine for the treatment of inborn errors of metabolism in 1992. This approval was based on retrospective chart analysis of 90 p...
68 CitationsSource
#1Agnieszka Seyda (U of T: University of Toronto)H-Index: 5
#2Robert F. Newbold (Brunel University London)H-Index: 44
Last. Brian H. Robinson (U of T: University of Toronto)H-Index: 67
view all 11 authors...
We have studied cultured skin fibroblasts from three siblings and one unrelated individual, all of whom had fatal mitochondrial disease manifesting soon after birth. After incubation with 1 mM glucose, these four cell strains exhibited lactate/pyruvate ratios that were six times greater than those of controls. On further analysis, enzymatic activities of the pyruvate dehydrogenase complex, the 2-oxoglutarate dehydrogenase complex, NADH cytochrome c reductase, succinate dehydrogenase, and succina...
65 CitationsSource