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1

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Returning integrated genomic risk and clinical recommendations: The eMERGE study

Linder, Jodell E. ; Allworth, Aimee ; Bland, Harris T. ; [et al.]

Elsevier BV ; 2023

In: Genetics in Medicine Vol. 25, No. 4 ( 2023-04), p. 100006-

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In: Genetics in Medicine, Elsevier BV, Vol. 25, No. 4 ( 2023-04), p. 100006-

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1016/j.gim.2023.100006

Language: English

Publisher: Elsevier BV

Publication Date: 2023

detail.hit.zdb_id: 2063504-7

SSG: 12

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2

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Redefining the Etiologic Landscape of Cerebellar Malformations

Aldinger, Kimberly A. ; Timms, Andrew E. ; Thomson, Zachary ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 105, No. 3 ( 2019-09), p. 606-615

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 105, No. 3 ( 2019-09), p. 606-615

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2019.07.019

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

SSG: 12

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3

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, Frank J. ; Ansari, Morad ; Braunholz, Diana ; [et al.]

Oxford University Press (OUP) ; 2014

In: Human Molecular Genetics Vol. 23, No. 11 ( 2014-06-01), p. 2888-2900

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In: Human Molecular Genetics, Oxford University Press (OUP), Vol. 23, No. 11 ( 2014-06-01), p. 2888-2900

Type of Medium: Online Resource

ISSN: 1460-2083 , 0964-6906

URL: Article

DOI: 10.1093/hmg/ddu002

RVK:

XA 10000

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2014

detail.hit.zdb_id: 1474816-2

SSG: 12

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4

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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A. ; [et al.]

Elsevier BV ; 2018

In: Genetics in Medicine Vol. 20, No. 10 ( 2018-10), p. 1175-1185

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In: Genetics in Medicine, Elsevier BV, Vol. 20, No. 10 ( 2018-10), p. 1175-1185

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/gim.2017.249

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 2063504-7

SSG: 12

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5

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Improving performance of multigene panels for genomic analysis of cancer predisposition

Shirts, Brian H. ; Casadei, Silvia ; Jacobson, Angela L. ; [et al.]

Elsevier BV ; 2016

In: Genetics in Medicine Vol. 18, No. 10 ( 2016-10), p. 974-981

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In: Genetics in Medicine, Elsevier BV, Vol. 18, No. 10 ( 2016-10), p. 974-981

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/gim.2015.212

Language: English

Publisher: Elsevier BV

Publication Date: 2016

detail.hit.zdb_id: 2063504-7

SSG: 12

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6

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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, Jill A. ; Leppig, Kathleen ; Ballif, Blake C. ; [et al.]

Elsevier BV ; 2009

In: Genetics in Medicine Vol. 11, No. 11 ( 2009-11), p. 797-805

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In: Genetics in Medicine, Elsevier BV, Vol. 11, No. 11 ( 2009-11), p. 797-805

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1097/GIM.0b013e3181bd38a9

Language: English

Publisher: Elsevier BV

Publication Date: 2009

detail.hit.zdb_id: 2063504-7

SSG: 12

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7

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Minor Malformations: Significant or Insignificant

LEPPIG, KATHLEEN A.

American Medical Association (AMA) ; 1988

In: Archives of Pediatrics & Adolescent Medicine Vol. 142, No. 12 ( 1988-12-01), p. 1274-

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In: Archives of Pediatrics & Adolescent Medicine, American Medical Association (AMA), Vol. 142, No. 12 ( 1988-12-01), p. 1274-

Type of Medium: Online Resource

ISSN: 1072-4710

URL: Article

DOI: 10.1001/archpedi.1988.02150120028024

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 1988

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8

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Motivating Factors for Physician Ordering of Factor V Leiden Genetic Tests

Hindorff, Lucia A. ; Burke, Wylie ; Laberge, Anne-Marie ; [et al.]

American Medical Association (AMA) ; 2009

In: Archives of Internal Medicine Vol. 169, No. 1 ( 2009-01-12), p. 68-

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In: Archives of Internal Medicine, American Medical Association (AMA), Vol. 169, No. 1 ( 2009-01-12), p. 68-

Type of Medium: Online Resource

ISSN: 0003-9926

URL: Article

DOI: 10.1001/archinternmed.2008.517

RVK:

XA 29200

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2009

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9

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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

Stergachis, Andrew B. ; Blue, Elizabeth E. ; Gillentine, Madelyn A. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2023

In: Neurology Genetics Vol. 9, No. 5 ( 2023-10)

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In: Neurology Genetics, Ovid Technologies (Wolters Kluwer Health), Vol. 9, No. 5 ( 2023-10)

Type of Medium: Online Resource

ISSN: 2376-7839

URL: Article

DOI: 10.1212/NXG.0000000000200090

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2023

detail.hit.zdb_id: 2818607-2

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10

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Ring X and Other Structural X Chromosome Abnormalities: X Inactivation and Phenotype

Leppig, Kathleen A. ; Disteche, Christine M.

Georg Thieme Verlag KG ; 2001

In: Seminars in Reproductive Medicine Vol. 19, No. 02 ( 2001), p. 147-158

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In: Seminars in Reproductive Medicine, Georg Thieme Verlag KG, Vol. 19, No. 02 ( 2001), p. 147-158

Type of Medium: Online Resource

ISSN: 1526-8004 , 1526-4564

URL: Article

DOI: 10.1055/s-2001-15395

Language: Unknown

Publisher: Georg Thieme Verlag KG

Publication Date: 2001

detail.hit.zdb_id: 2072473-1

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