M. Dinulos

发表

Structure and chromosomal localization of the β2 subunit of the human brain sodium channel

C. Disteche, W. Catterall, J. Eubanks, 1997, Neuroreport.

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

L. Hudgins, C. Eng, K. Leppig, 2001, Journal of Medical Genetics.

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

C. Disteche, E. Rugarli, R. Elliott, 1998, Mammalian Genome.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.

Stephanie E. Vallee, M. Dinulos, 2020, Clinics in laboratory medicine.

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.

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

D. Viskochil, T. Trotter, M. Lloyd-Puryear, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A candidate gene for the amnionless gastrulation stage mouse mutation encodes a TRAF-related protein.

D. Gilbert, N. Jenkins, E. Lacy, 1996, Developmental biology.

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy

J. Rosenfeld, P. Byers, W. Neufeld-Kaiser, 2017, American journal of medical genetics. Part A.

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.

Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases

J. Gui, R. Chou, M. Dinulos, 2017, Scientific Reports.

Introduction: genetic principles, approaches and technologies.

M. Dinulos, 2005, Clinics in dermatology.

Partial characterization of the genome of nine animal caliciviruses

B. Golding, X. Jiang, T. Berke, 2005, Archives of Virology.

Expansile bone lesions in a three-generation family.

C. B. Graham, L. Hudgins, M. Dinulos, 1999, American journal of medical genetics.

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

S. Rozen, L. Brown, D. Page, 1996, Nature Genetics.

Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.

L. Brown, D. Page, C. Disteche, 1996, Genomics.

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

J. Phelan, E. McCabe, G. Kletter, 2006, Molecular genetics and metabolism.

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Bernd Wollnik, Ethylin Wang Jabs, Simeon A Boyadjiev, 2003, American journal of human genetics.

cDNA cloning and chromosome mapping of the human Fe65 gene: interaction of the conserved cytoplasmic domains of the human beta-amyloid precursor protein and its homologues with the mouse Fe65 protein.

S. Bressler, C. Disteche, M. Gray, 1996, Human molecular genetics.

A new region of conservation is defined between human and mouse X chromosomes.

C. Disteche, E. Rugarli, A. Ballabio, 1996, Genomics.

Discovery of a novel cystathionine-beta-synthase mutation and diagnosis of homocystinuria by whole exome sequencing in a family from rural Honduras

Stephanie E. Vallee, G. Tsongalis, J. Lefferts, 2015 .

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Stephanie E. Vallee, J. Rosenfeld, C. Haldeman-Englert, 2015, European Journal of Human Genetics.

Maternally inherited 133kb deletion of 14q32 causing Kagami–Ogata syndrome

Stephanie E. Vallee, G. Tsongalis, J. Lefferts, 2018, Journal of Human Genetics.

Maternally inherited 133kb deletion of 14q32 causing Kagami–Ogata syndrome

Stephanie E. Vallee, G. Tsongalis, J. Lefferts, 2018, Journal of Human Genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism

W. W. Parson, R. Jack, C. Yates, 2001, Neurology.

Investigation of NRXN1 deletions: Clinical and molecular characterization

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

J. Moeschler, Rosemarie Smith, Wendy E Smith, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Autosomal dominant inheritance of Barber-Say syndrome.

R. Pagon, M. Dinulos, 1999, American journal of medical genetics.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Stephanie E. Vallee, D. Valle, S. Szelinger, 2016, American journal of human genetics.

Response to Hamosh et al.

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

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype.

J. Hodgson, M. Hayden, D. J. Smith, 1996, Human molecular genetics.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.