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1 . Academic Journal
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
저자
by
Agrawal, Pankaj
;
Armstrong Scott, Daryl
;
Barkoudah, Elizabeth
;
Bellini, Melissa
;
Beneteau, Claire
, et al.
소스
In
The American Journal of Human Genetics
7 March 2024 111(3):509-528
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7 . Academic Journal
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
저자
by
Boycott, Kym
;
Brudno, Michael
;
Bernier, Francois
;
van Karnebeek, Clara
;
Dyment, David
, et al.
소스
In
Genetics in Medicine
February 2024 26(2)
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7 . Academic Journal
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
저자
by
van Karnebeek, Clara D.M.
;
Tarailo-Graovac, Maja
;
Leen, René
;
Meinsma, Rutger
;
Correard, Solenne
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
저자
by
Ravenscroft, Thomas A.
;
Phillips, Jennifer B.
;
Fieg, Elizabeth
;
Bajikar, Sameer S.
;
Peirce, Judy
, et al.
소스
In
Genetics in Medicine
October 2021 23(10):1889-1900
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7 . Academic Journal
Monogenic variants in dystonia: an exome-wide sequencing study
저자
by
Zech, Michael
;
Jech, Robert
;
Boesch, Sylvia
;
Škorvánek, Matej
;
Weber, Sandrina
, et al.
소스
In
The Lancet Neurology
November 2020 19(11):908-918
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7 . Academic Journal
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
저자
by
Bakshi, Madhura
;
Wilson, Meredith
;
Berman, Yemina
;
Dickson, Rebecca
;
Fransen, Erik
, et al.
소스
In
Biological Psychiatry
15 February 2019 85(4):287-297
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7 . Academic Journal
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder.
저자
by
White‐Brown, Alexandre
;
Choufani, Sanaa
;
Weksberg, Rosanna
;
Dyment, David
.
소스
American Journal of Medical Genetics. Part A; Oct2023, Vol. 191 Issue 10, p2640-2646, 7p
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6 . Periodical
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
저자
by
Hartley, Taila
;
Marshall, Deborah
;
Acker, Meryl
;
Fooks, Katharine
;
Gillespie, Meredith K.
, et al.
소스
Genetics in Medicine; February 2024, Vol. 26 Issue: 2
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7 . Academic Journal
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.
저자
by
Evans, Daniel R.
;
Green, Jane S.
;
Fahiminiya, Somayyeh
;
Majewski, Jacek
;
Fernandez, Bridget A.
, et al.
소스
Scientific Reports
. 7/2/2020, Vol. 10 Issue 1, p1-9. 9p.
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7 . Periodical
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
저자
by
Osmond, Matthew
;
Hartley, Taila
;
Dyment, David A.
;
Kernohan, Kristin D.
;
Brudno, Michael
, et al.
소스
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p100-108, 9p
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