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1 . Academic Journal
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
저자
by
Pantel, Jean Tori
;
Hajjir, Nurulhuda
;
Danyel, Magdalena
;
Elsner, Jonas
;
Abad-Perez, Angela Teresa
, et al.
소스
Journal of Medical Internet Research, Vol 22, Iss 10, p e19263 (2020)
Open Access (DOAJ)
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7 . Academic Journal
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
저자
by
Balachandran, Saranya
;
Prada-Medina, Cesar A.
;
Mensah, Martin A.
;
Kakar, Naseebullah
;
Nagel, Inga
, et al.
소스
In
The American Journal of Human Genetics
1 February 2024 111(2):338-349
Full Text (ScienceDirect)
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7 . Academic Journal
AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology
저자
by
Klever, Marius-Konstantin
;
Sträng, Eric
;
Hetzel, Sara
;
Jungnitsch, Julius
;
Dolnik, Anna
, et al.
소스
In
Blood Advances
14 November 2023 7(21):6520-6531
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7 . Academic Journal
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
저자
by
Gottschalk, Annika
;
Sczakiel, Henrike L.
;
Hülsemann, Wiebke
;
Schwartzmann, Sarina
;
Abad-Perez, Angela T.
, et al.
소스
In
Genetics in Medicine
November 2023 25(11)
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7 . Academic Journal
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
저자
by
Baalmann, Nadja
;
Spielmann, Malte
;
Gillessen- Kaesbach, Gabriele
;
Hanker, Britta
;
Schmidt, Julia
, et al.
소스
In
European Journal of Medical Genetics
July 2023 66(7)
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7 . Academic Journal
Split hand/foot malformation associated with 20p12.1 deletion: A case report
저자
by
Ruaud, Lyse
;
Flöttmann, Ricarda
;
Spielmann, Malte
;
Escande, Fabienne
;
Van Maldergem, Lionel
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
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7 . Academic Journal
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
저자
by
Kakar, Naseebullah
;
Rehman, Fazal ur
;
Kaur, Ramandeep
;
Bhavani, Gandham SriLakshmi
;
Goyal, Manisha
, et al.
소스
Clinical Genetics
. Jul2024, Vol. 106 Issue 1, p47-55. 9p.
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7 . Academic Journal
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
저자
by
de Boer, Elke
;
Marcelis, Carlo
;
Neveling, Kornelia
;
van Beusekom, Ellen
;
Hoischen, Alexander
, et al.
소스
In
Human Genetics and Genomics Advances
13 July 2023 4(3)
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7 . Academic Journal
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
저자
by
Figueroa, Karla P.
;
Gross, Caspar
;
Buena-Atienza, Elena
;
Paul, Sharan
;
Gandelman, Mandi
, et al.
소스
Nature Genetics
. 56(6):1080-1089
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7 . Academic Journal
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome – The emerging role of combined NGS and phenotype based strategies
저자
by
Flöttmann, Ricarda
;
Knaus, Alexej
;
Zemojtel, Tomasz
;
Robinson, Peter N.
;
Mundlos, Stefan
, et al.
소스
In
European Journal of Medical Genetics
August 2015 58(8):376-380
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