M. Harr

发表

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

E. Zackai, Mindy H. Li, J. Glass, 2021, American journal of medical genetics. Part A.

Participant choices for return of genomic results in the eMERGE Network

John J. Connolly, David C. Kochan, W. Chung, 2020, Genetics in Medicine.

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Marc S. Williams, W. Chung, H. Hakonarson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Julie C. Sapp, J. Rosenfeld, E. Zackai, 2017, Genetics in Medicine.

Expanding the phenotypic spectrum of TP63‐related disorders including the first set of monozygotic twins

H. Hakonarson, Z. Stark, M. Harr, 2018, American journal of medical genetics. Part A.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.

E. Zackai, H. Hakonarson, Y. Barash, 2019, American journal of human genetics.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

E. Zackai, R. Ganetzky, M. Simpson, 2015, Molecular genetics & genomic medicine.

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

John A. Lynch, David C. Kochan, Marc S. Williams, 2020, Journal of personalized medicine.

Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing

H. Hakonarson, J. Landgraf, M. Harr, 2022, Frontiers in Oncology.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

John J. Connolly, Marc S. Williams, W. Chung, 2018, Healthcare.

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

E. Zackai, M. Harr, B. Keena, 2017, European journal of medical genetics.

Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children

John J. Connolly, H. Hakonarson, I. Holm, 2022, Journal of personalized medicine.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research

John J. Connolly, H. Hakonarson, E. Clayton, 2022, Journal of personalized medicine.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

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.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues

Laura K Conlin, Minjie Luo, E. Zackai, 2017, American journal of medical genetics. Part A.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

Iftikhar J. Kullo, Gail P. Jarvik, Rongling Li, 2018, Journal of personalized medicine.

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

Marc S. Williams, W. Chung, R. Green, 2020, Journal of personalized medicine.

A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.

H. Hakonarson, C. Chung, A. Santani, 2021, The Journal of molecular diagnostics : JMD.

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

Marni J. Falk, Nathan R. Wilson, E. Zackai, 2014, Journal of Medical Genetics.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

H. Hakonarson, K. Frazer, Jian Wang, 2019, Nature Communications.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

E. Zackai, M. Deardorff, A. Telegrafi, 2018, American journal of medical genetics. Part A.

Do research participants share genomic screening results with family members?

W. Chung, P. Appelbaum, I. Kullo, 2021, Journal of genetic counseling.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Cecilia Kim, 2015, American journal of medical genetics. Part A.

CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases

E. Zackai, R. Ganetzky, A. Santani, 2014, American journal of medical genetics. Part A.

“CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014

E. Zackai, R. Ganetzky, A. Santani, 2015, American journal of medical genetics. Part A.

Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network.

W. Chung, T. Manolio, J. Ralston, 2021, Circulation. Heart failure.

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

R. Pfundt, H. Ropers, P. Jayakar, 2021, HGG advances.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Returning integrated genomic risk and clinical recommendations: the eMERGE study.

Melissa L. Habrat, Jorge A. Alsip, Kathleen F. Mittendorf, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2019 .

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

N. Lennon, H. Hakonarson, J. Cimino, 2023, medRxiv.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

H. Hakonarson, P. Crino, M. Hegde, 2016, American journal of human genetics.