Professor of Pediatrics, University Pennsylvania
Medical Genetics
Dr. Elaine H. Zackai, MD
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Elaine Zackai works in the field of Medical Genetics. He went to Albert Einstein College of Medicine at Jacobi Medical Center. He received awards:"Philadelphia Magazine", "America's Top Doctors", "Super Doctor" and "Top MD". Doctor Elaine H. Zackai, MD is a published doctor as well. He has 100 publications published. The latest was: B cell development in chromosome 22q11.2 deletion syndrome.
Publications
- B cell development in chromosome 22q11.2 deletion syndrome.
- Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.
- Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
- Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Atypical Williams syndrome in an infant with complete atrioventricular canal defect.
- Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve.
- Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
- Melorheostosis: segmental osteopoikilosis or a separate entity?
- Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
- Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
- Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
- Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.
- Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature.
- Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
- Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.
- 22q11.2 Deletion syndrome and obstructive sleep apnea.
- A 35-Year Experience With Syndromic Cleft Palate Repair: Operative Outcomes and Long-term Speech Function.
- Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome.
- De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea.
- Patient Genotypes Impact Survival After Surgery for Isolated Congenital Heart Disease.
- Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.
- An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
- Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
- Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
- Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome: Implications for Future Screening.
- Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
- Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
- Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.
- Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et ...
- Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft pal...
- Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
- Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
- Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis.
- Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis.
- Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
- Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes.
- Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
- Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (...
- A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
- Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
- Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
- Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
- Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
- Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
- 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
- Revision of "A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia".
- Ablepharon-Macrostomia syndrome-Extension of the phenotype.
- Mosaic trisomy 17: variable clinical and cytogenetic presentation.
- A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome.
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
- Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
- Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
- A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
- Metopic craniosynostosis due to mutations in GLI3: A novel association.
- Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.
- A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
- A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
- Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
- The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.
- Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
- High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
- Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
- Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
- A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
- Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
- Aortic root dilation in patients with 22q11.2 deletion syndrome.
- CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion ...
- Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.
- Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disea...
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
- The changing epidemiologic spectrum of single-suture synostoses.
- Additional EFNB1 mutations in craniofrontonasal syndrome.
- Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
- The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis.
- Parathyroid hormone reserve in 22q11.2 deletion syndrome.
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
- Genetic counseling for the 22q11.2 deletion.
- Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
- Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
- Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
- Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
- A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
- Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.
- Ocular findings in the chromosome 22q11.2 deletion syndrome.
- Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
- Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
- Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
- Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.
- Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.
- Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
- Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
- HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
- Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion.
- Wilms tumor in an 11-year-old with hemihyperplasia.
- DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
Schools
New York University
Bronx Municipal Hospital Center
St Louis Childrens Hospital
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
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- Amerigroup (Wellpoint)
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- Oxford Liberty
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Awards
- Philadelphia Magazine
- America's Top Doctors
- Super Doctor
- Top MD
Education
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Albert Einstein College of Medicine at Jacobi Medical Center -
NYU School of Medicine
Hospital
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Doylestown Hospital -
Hospital of the University of Pennsylvania -
Pennsylvania Hospital
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