A. Beck

发表

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Emily H Turner, M. Rieder, J. Shendure, 2010, Nature Genetics.

The spectrum of brain malformations and disruptions in twins

I. Glass, R. Hevner, W. Dobyns, 2020, American journal of medical genetics. Part A.

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

M. Bamshad, S. Blanton, A. Beck, 2011, American journal of medical genetics. Part A.

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

Genotype‐phenotype relationships in Freeman–Sheldon syndrome

M. Bamshad, M. McMillin, A. Beck, 2014, American journal of medical genetics. Part A.

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.

M. Bamshad, M. Regnier, M. McMillin, 2015, Human molecular genetics.

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

M. Bamshad, M. Regnier, J. Carey, 2013, American journal of medical genetics. Part A.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, M. Nowaczyk, 2021, Human genetics.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Stephanie E. Vallee, E. Zackai, A. Battaglia, 2019, American journal of medical genetics. Part A.

Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.

G. Enns, A. Beck, L. Wong, 2006, Molecular genetics and metabolism.

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

J. Kurtzberg, N. Delanty, C. Wolf, 2022, American journal of medical genetics. Part A.

Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo‐auriculo‐vertebral spectrum?

H. Hoyme, L. Hudgins, A. Beck, 2005, American journal of medical genetics. Part A.

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

J. Shendure, R. Gibbs, D. Nickerson, 2015, bioRxiv.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Contractile properties of developing human fetal cardiac muscle

M. Bamshad, M. Regnier, A. Beck, 2016, The Journal of physiology.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

A. Beck, A. Ganguly, L. Conlin, 2019, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Marc S. Williams, J. Shendure, D. Nickerson, 2014, American journal of human genetics.

Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study

A. Beck, L. Ambartsumyan, P. Salehi, 2017, Medicine.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Consider. A statement of the American College of Medical Genetics and Genomics (ACMG)

H. Rehm, A. Hamosh, C. Martin, 2018, Genetics in Medicine.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

H. Hoyme, G. Enns, A. Beck, 2003, American journal of medical genetics. Part A.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, A. Beck, 2021, Human Genetics.

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Mercedes E. Alejandro, Alyssa A. Tran, J. Rosenfeld, 2019, bioRxiv.

Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor

A. Beck, K. Tsuchiya, G. Mirzaa, 2015, Pediatrics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Obesity management in Prader-Willi syndrome.

A. Beck, C. Roth, P. Salehi, 2015, Pediatric endocrinology reviews : PER.

Single Nucleotide Polymorphism (SNP) Arrays and Unexpected Consanguinity: Considerations for Clinicians When Returning Results to Families

Jessie H. Conta, H. Tabor, A. Beck, 2014, Genetics in Medicine.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

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.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Prolonged Relaxation Kinetics in Distal Arthrogryposis Skeletal Muscle Myofibrils with a MYH3 R672C Mutation

M. Bamshad, M. Regnier, A. Beck, 2014 .

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Response to Hamosh et al.

C. Haldeman-Englert, M. Bamshad, I. Glass, 2021, American journal of human genetics.

Contractility and kinetics of human fetal and human adult skeletal muscle

M. Bamshad, M. Regnier, A. Beck, 2013, The Journal of physiology.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.