E. McPherson

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Minor anomalies in stillborn and second trimester miscarried fetuses

E. McPherson, C. Cold, 2016, American journal of medical genetics. Part A.

Genetic diagnosis and testing in clinical practice.

E. McPherson, 2006, Clinical medicine & research.

SeqHBase: a big data toolset for family based sequencing data analysis

Peggy L Peissig, Zhan Ye, Gholson J Lyon, 2015, Journal of Medical Genetics.

Cardiac Anomalies in Liveborn and Stillborn Monochorionic Twins

S. Hebbring, E. McPherson, C. Korlesky, 2020, Clinical Medicine & Research.

Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?

E. McPherson, M. Clemens, 1996, American journal of medical genetics.

The genetics of malignant hyperthermia: evidence for heterogeneity.

E. McPherson, C. Taylor, Elspeth McPherson, 1982, American journal of medical genetics.

Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.

U. Surti, S. Gollin, E. McPherson, 2002, American journal of medical genetics.

Wisconsin Stillbirth Service Program: Analysis of large for gestational age cases

E. McPherson, C. Cold, C. Zaleski, 2012, American journal of medical genetics. Part A.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation

P. Giampietro, E. McPherson, L. Turner, 2009, American journal of medical genetics. Part A.

Vertical transmission of the neurofibromatosis/Noonan syndrome.

E. McPherson, T. Quattrin, T. Putnam, 1987, American journal of medical genetics.

Radiographic evaluation of stillbirth: What does it contribute?

E. McPherson, Erica E Swenson, Lynn Schema, 2014, American journal of medical genetics. Part A.

DLL3 as a candidate gene for vertebral malformations

P. Giampietro, R. Pauli, N. Ghebranious, 2006, American Journal of Medical Genetics. Part A.

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.

D. Higgs, E. McPherson, R. Gibbons, 1995, American journal of medical genetics.

Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.

S. Bohlander, O. Riess, D. Callen, 1995, American journal of human genetics.

Duplication 20p identified via fluorescent in situ hybridization.

E. McPherson, A. Estop, K. LeChien, 1994, American journal of medical genetics.

Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen

E. McPherson, C. Zaleski, Abigail M Bales, 2010, Journal of Genetic Counseling.

Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs.

S. Schwartz, R. Laxová, E. McPherson, 1981, American journal of medical genetics.

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

P. Byers, K. Conneely, G. Pals, 2013, Human molecular genetics.

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

U. Surti, E. McPherson, M. Clemens, 1995, Journal of medical genetics.

Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations

P. Giampietro, O. Boachie-Adjei, R. Pauli, 2007, Scoliosis.

Clinical genetics provider real-time workflow study

C. McCarty, P. Giampietro, E. McPherson, 2008, Genetics in Medicine.

Newborn screening programs: Should 22q11 deletion syndrome be added?

E. McPherson, C. Zaleski, Abigail M Bales, 2010, Genetics in Medicine.

Robinow syndrome with variable neurologic features

P. Giampietro, E. McPherson, C. Zaleski, 2006, Genetics in Medicine.

Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis

E. McPherson, C. Cold, C. Zaleski, 2011, American journal of medical genetics. Part A.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.

Neuroblastoma in a 17‐week fetus: A stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages

E. McPherson, C. Cold, C. Zaleski, 2015, American journal of medical genetics. Part A.

Sacral tumors in Schinzel-Giedion syndrome.

U. Surti, E. McPherson, M. Clemens, 1998, American journal of medical genetics.

Pathological Case of the Month

E. McPherson, W. A. Hogge, L. Hill, 2001 .

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

E. McPherson, W. Hogge, R. Pinter, 2004, American journal of medical genetics. Part A.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

An analysis of PAX1 in the development of vertebral malformations

J. Weber, P. Giampietro, R. Pauli, 2005, Clinical genetics.

Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records

Yiqing Zhao, C. Weng, F. Xia, 2016, PloS one.

A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations

P. Giampietro, O. Boachie-Adjei, R. Pauli, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Three cases of tetrasomy 9p.

U. Surti, E. McPherson, W. Hogge, 2002, American journal of medical genetics.

Partial hexasomy for the Prader–Willi–Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome

D. Dawson, E. McPherson, G. Velagaleti, 2010, American journal of medical genetics. Part A.

THE USE OF INTERPHASE FISH FOR PRENATAL DIAGNOSIS OF PALLISTER–KILLIAN SYNDROME

U. Surti, E. McPherson, M. P. Stadler, 1997, Prenatal diagnosis.

Pallister-Killian and Fryns syndromes: nosology.

E. McPherson, D. Ketterer, D. Salsburey, 1993, American journal of medical genetics.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype

S. Schwartz, E. McPherson, C. Chu, 2004, American journal of medical genetics. Part A.

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis

U. Surti, K. Neiswanger, E. McPherson, 2006, Prenatal diagnosis.

Extreme Values of Maternal Serum Analytes in Second Trimester Screening: Looking Beyond Trisomy and NTD’s

P. Giampietro, E. McPherson, C. Zaleski, 2011, Journal of Genetic Counseling.

Renal anomalies in families of individuals with congenital solitary kidney

E. McPherson, 2007, Genetics in Medicine.

Trisomy 22 in a liveborn infant with multiple congenital anomalies.

E. McPherson, D. Stetka, 1990, American journal of medical genetics.

Severe Pallister–Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies

E. McPherson, C. Cold, 2013, American journal of medical genetics. Part A.

3137 fetuses in 33 years: What we have learned from the Wisconsin stillbirth service program

E. McPherson, 2021, American journal of medical genetics. Part A.

A novel gene mutation in an infant with cranial dysmorphology and orbital-maxillary hypoplasia.

E. McPherson, B. Costello, Paul M Ciuci, 2004, Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.

Myotonic dystrophy in pregnancy. Prenatal, neonatal and maternal considerations.

W. Dillon, E. McPherson, M. Nazir, 1984, The Journal of reproductive medicine.

The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies.

E. McPherson, C. Taylor, 1981, American journal of medical genetics.

Dominantly inherited renal adysplasia.

J. Carey, R. Pauli, E. McPherson, 1987, American journal of medical genetics.

WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data

Simon Lin, Zhan Ye, Daniel Wall, 2016, Comput. Biol. Medicine.

Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality

E. McPherson, E. McPherson, S. Wenger, 1997, Clinical genetics.

Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

U. Surti, E. McPherson, M. Clemens, 1996, American journal of medical genetics.

Further delineation of the C (trigonocephaly) syndrome.

J. Opitz, R. Gorlin, E. McPherson, 1981, American journal of medical genetics.

FMR1 CGG expansions: Prevalence and sex ratios

K. Broman, M. Brilliant, E. McPherson, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Further delineation of the Baller-Gerold syndrome.

H. Losken, J. Mulvihill, A. Lin, 1993, American journal of medical genetics.

Single umbilical artery: What does it mean for the fetus? A case-control analysis of pathologically ascertained cases

E. McPherson, S. Prucka, M. Clemens, 2004, Genetics in Medicine.

The floating harbor syndrome with cardiac septal defect.

J. Mulvihill, E. McPherson, L. J. Rittmeyer, 1996, American journal of medical genetics.

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case.

E. McPherson, M. Clemens, 1997, American journal of medical genetics.

Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.

U. Surti, E. McPherson, M. Clemens, 1997, American journal of medical genetics.

Measures of maternal alcohol use as predictors of development in early childhood.

M. Russell, P. Mudar, E. McPherson, 1991, Alcoholism, clinical and experimental research.

Another case of prenatally diagnosed 48,XYY,+21.

E. McPherson, E. Gettig, K. Filkins, 1995, American journal of medical genetics.

The co‐occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome

A. Bassett, E. McPherson, C. Zaleski, 2009, American journal of medical genetics. Part A.

Acute health events in adult patients with genetic disorders: The Marshfield Epidemiologic Study Area

R. Greenlee, P. Giampietro, R. Berg, 2006, Genetics in Medicine.

Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?

M. Muenke, E. McPherson, D. Huff, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Monosomy 17 mosaicism in amniotic fluid cells.

E. McPherson, M. Piedmonte, D. Stetka, 1987, American journal of medical genetics.

11q-syndrome: review and report of two cases.

E. McPherson, L. Meissner, 1982, Birth defects original article series.

Recurrence of stillbirth and second trimester pregnancy loss

E. McPherson, 2016, American journal of medical genetics. Part A.

Discovering the cause of stillbirth

E. McPherson, 2013, Current opinion in obstetrics & gynecology.

Janiceps Conjoined Twins with Extreme Asymmetry: Case Report with Complete Autopsy and Histopathologic Findings

E. McPherson, J. Ozolek, G. Murdoch, 2009, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Limb deformations in oligohydramnios sequence: effects of gestational age and duration of oligohydramnios

E. McPherson, D. Huff, C. Christianson, 1999, Genetics in Medicine.

Letter: Severe mixed metabolic and respiratory alkalosis in Reye syndrome.

R. Chesney, E. McPherson, W. Segar, 1976, The Journal of pediatrics.

Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal

E. McPherson, C. Zaleski, J. Cava, 2011, American journal of medical genetics. Part A.

Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis

E. McPherson, C. Zaleski, A. Vinitsky, 2013, American journal of medical genetics. Part A.

Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages

E. McPherson, 2019, American journal of medical genetics. Part A.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

E. McPherson, C. Mroske, D. Shinde, 2015, BMC Medical Genetics.

Goldenhar association and cranial defects.

R. Pauli, E. McPherson, J. Jung, 1983, American journal of medical genetics.

Cleft lip and palate in Aicardi syndrome.

E. McPherson, S. M. Jones, 1990, American journal of medical genetics.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?

Simon M Lin, Z. Ye, E. McPherson, 2014, American journal of medical genetics. Part A.

Evaluation of SLC35A3 as a candidate gene for human vertebral malformations

P. Giampietro, N. Ghebranious, E. McPherson, 2006, American journal of medical genetics. Part A.

Stillbirth: The heart of the matter

E. McPherson, C. Cold, C. Zaleski, 2014, American journal of medical genetics. Part A.

Early demise of twins in a cohort of stillbirths and second trimester miscarriages

E. McPherson, C. Korlesky, 2019, American journal of medical genetics. Part A.

Schinzel-Giedion midface retraction syndrome

E. McPherson, 2011 .

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome

E. Jabs, E. McPherson, B. A. Shoo, 2004, American journal of medical genetics. Part A.

Clinical Report Mosaicism of a TCOF1 Mutation in an Individual Clinically Unaffected With Treacher Collins Syndrome

E. Jabs, E. McPherson, B. A. Shoo, 2004 .

Mitochondrial mutation in a child with distal arthrogryposis

E. McPherson, Carrie A. Zabel, 2006, American Journal of Medical Genetics. Part A.

Prenatal diagnosis of episodic tachypnea in an infant with OFD VI

E. McPherson, M. Mascola, Christina A Zaleski, 2006, American journal of medical genetics. Part A.