M. Maisenbacher

发表

Identification of copy number variants associated with BPES-like phenotypes

E. Bakker, C. Ruivenkamp, R. Hennekam, 2008, Human Genetics.

Size matters: single nucleotide polymorphism (SNP) based chromosome analysis of products of conception (POC) samples identifies clinically significant deletions/duplications below karyotype resolution

Matthew J. Young, M. Maisenbacher, S. Sigurjonsson, 2015 .

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

B. Byrne, J. Crowley, D. Reeds, 2013, Journal of Inherited Metabolic Disease.

Molecular analysis of congenital scoliosis: a candidate gene approach

E. Zackai, K. Kusumi, J. Dormans, 2005, Human Genetics.

Congenital Scoliosis and Vertebral Malformations: Characterization of Segmental Defects for Genetic Analysis

E. Zackai, K. Kusumi, P. Turnpenny, 2004, Journal of pediatric orthopedics.

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

B. Byrne, A. Roberts, Judith Geva, 2012, American journal of medical genetics. Part A.

Relationship between paternal factors and embryonic aneuploidy of paternal origin.

C. Boots, Marissa L. Bonus, E. Feinberg, 2022, Fertility and sterility.

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

D. A. Weinstein, R. Zori, T. Ivšić, 2009, Journal of Inherited Metabolic Disease.

Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages.

M. Maisenbacher, W. Kutteh, K. Merrion, 2019, Fertility and sterility.

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

Z. Demko, S. Kareht, M. Maisenbacher, 2017, Molecular Cytogenetics.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

D. Geschwind, P. Mazzoni, P. Svenningsson, 2013, neurogenetics.

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

E. Zackai, K. Gripp, L. Whitaker, 2005, American journal of medical genetics. Part A.

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

E. Zackai, B. Emanuel, S. Saitta, 2004, Human molecular genetics.

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

Z. Demko, S. Kareht, M. Maisenbacher, 2017, Molecular Cytogenetics.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Genomic Imbalance in Products of Conception: Single-Nucleotide Polymorphism Chromosomal Microarray Analysis

M. Rabinowitz, Z. Demko, V. Aggarwal, 2014, Obstetrics and gynecology.

Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

Z. Demko, M. Maisenbacher, S. Sigurjonsson, 2014, Fertility and sterility.

Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.

C. Cinnioğlu, M. Maisenbacher, R. Lathi, 2017, Fertility and sterility.

Novel ploidy analysis in ectopic pregnancy

K. Barnhart, E. Feinberg, M. Maisenbacher, 2020, F&S reports.

Neutropenia in Barth syndrome: characteristics, risks, and management

M. Mackey, R. Newbury-Ecob, D. Dale, 2019, Current opinion in hematology.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome.

E. Zackai, J. Tamai, D. McDonald-McGinn, 2004, The Journal of bone and joint surgery. American volume.

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion

E. Zackai, M. Deardorff, M. Maisenbacher, 2004, American journal of medical genetics. Part A.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Robert I. White, W. Reardon, B. Bernhardt, 2010, American journal of medical genetics. Part A.

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array‐based CGH

E. Zackai, B. Weber, J. Hoffman, 2006, Clinical genetics.

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.

B. Byrne, P. Benni, R. Margossian, 2011, American journal of physiology. Heart and circulatory physiology.

Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

M. Maisenbacher, K. Merrion, 2019, Journal of Assisted Reproduction and Genetics.

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion

E. Zackai, A. Brooks-Kayal, D. Lynch, 2004, American journal of medical genetics. Part A.

Donor oocyte pregnancies and fetal fraction: managing patient expectations and providing accurate information

M. Maisenbacher, A. Ryan, W. DiNonno, 2019, Fertility and Sterility.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

W. Reardon, B. Bernhardt, R. Pyeritz, 2010, American journal of medical genetics. Part A.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, H. Firth, D. Rimoin, 2006, Journal of Medical Genetics.

Maternal Sex Chromosome Aneuploidy Identified through Noninvasive Prenatal Screening: Clinical Profile and Patient Experience

M. Maisenbacher, J. Wilkinson, N. Faulkner, 2023, American Journal of Perinatology.