A. Wilkens

发表

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

R. Pfundt, S. Robertson, D. Wieczorek, 2017, American journal of human genetics.

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

I. Krantz, L. Medne, Minjie Luo, 2019, The Journal of molecular diagnostics : JMD.

Cardiac manifestations of Pallister–Killian syndrome

I. Krantz, A. Wilkens, K. Izumi, 2014, American journal of medical genetics. Part A.

Congenital heart defects in oculodentodigital dysplasia: Report of two cases

E. Zackai, A. Wilkens, D. McDonald-McGinn, 2013, American journal of medical genetics. Part A.

Elevation of insulin‐like growth factor binding protein‐2 level in Pallister–Killian syndrome: Implications for the postnatal growth retardation phenotype

I. Krantz, K. Shirahige, A. Wilkens, 2015, American journal of medical genetics. Part A.

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

E. Zackai, N. Spinner, S. Saitta, 2013, American journal of medical genetics. Part A.

Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

I. Krantz, A. Wilkens, E. Schwartz, 2017, American journal of medical genetics. Part A.

Genome-Wide Expression Analysis in Fibroblast Cell Lines from Probands with Pallister Killian Syndrome

I. Krantz, N. Spinner, Zhe Zhang, 2014, PloS one.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2014, BMC Bioinformatics.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

I. Krantz, L. Conlin, A. Wilkens, 2018, American journal of medical genetics. Part A.

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Jeffrey W. Pennington, I. Krantz, N. Spinner, 2015, Human Genomics.

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐Level Uniparental Disomy

N. Spinner, J. Biegel, V. Livolsi, 2013, American journal of medical genetics. Part A.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

I. Krantz, H. Hakonarson, H. Rehm, 2013, American journal of medical genetics. Part A.

A Centralized Approach for Practicing Genomic Medicine

I. Krantz, N. Spinner, B. Devkota, 2020, Pediatrics.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

Peter N. Robinson, Jeffrey W. Pennington, Aaron J. Masino, 2014, BMC Bioinformatics.

Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

I. Krantz, A. Wilkens, Kristen Park, 2012, American journal of medical genetics. Part A.

Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

I. Krantz, E. Bedoukian, A. Wilkens, 2016, American journal of medical genetics. Part A.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

E. Zackai, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

I. Krantz, N. Spinner, Jeffrey Pennington, 2017, Genetics in Medicine.

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

Erica Ma, Eric D. Marsh, Neal Sondheimer, 2017, Neurology: Genetics.

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome

E. Zackai, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion

I. Krantz, A. Wilkens, M. Ramos, 2016, American journal of medical genetics. Part C, Seminars in medical genetics.

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

I. Krantz, N. Spinner, Minjie Luo, 2018, Genetics in Medicine.

Phase II Dose Escalation Study of Caspofungin for Invasive Aspergillosis (cid:1) §

M. Hallek, A. Wilkens, F. Farowski, 2011 .

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio‐oculo‐facial syndrome

E. Zackai, H. Calkins, D. Judge, 2013, American journal of medical genetics. Part A.

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development

G. Wertheim, R. Ganetzky, L. Conlin, 2023, Molecular Syndromology.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome

E. Zackai, M. Deardorff, A. Wilkens, 2023, American journal of medical genetics. Part A.

Novel MBTPS2 Missense Mutation in the N‐Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome

I. Krantz, J. Treat, A. Wilkens, 2013, Pediatric dermatology.