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1
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
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Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans

Guo, Rui ; Wu, Huan ; Zhu, Xiaoyu ; Wang, Guanxiong ; Hu, Kaiqin ; Li, Kuokuo ; Geng, Hao ; Xu, Chuan ; Zu, Chenwan ; Gao, Yang ; Tang, Dongdong ; Cao, Yunxia ; He, Xiaojin

Journal of medical genetics, 2024-06, Vol.61 (6), p.553-565 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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2
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
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Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

Koene, Saskia ; Ropers, Fabiënne Gwendolin ; Wieland, Jannelien ; Rybak, Tamara ; Wildschut, Floor ; Berghuis, Dagmar ; Morgan, Angela ; Trelles, Maria Pilar ; Scheepe, Jeroen Ronald ; Bökenkamp, Regina ; Peeters-Scholte, Cacha M P C D ; Braden, Ruth ; Santen, Gijs W E

Journal of medical genetics, 2024-03, Vol.61 (4), p.399-404 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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3
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
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TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy

Chang, Yuchen ; Wacker, Julie ; Ingles, Jodie ; Macciocca, Ivan ; King, Ingrid ; Semsarian, Christopher ; McGaughran, Julie ; Weintraub, Robert G ; Bagnall, Richard D

Journal of medical genetics, 2024-02, Vol.61 (2), p.171-175 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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4
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
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Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

Erbs, Emilie ; Brasen, Claus Lohman ; Lund, Allan Meldgaard ; Rasmussen, Maria

European journal of medical genetics, 2023-03, Vol.66 (3), p.104698-104698, Article 104698 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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5
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
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Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms

Sena, Cecilia ; Iannello, Grazia ; Skowronski, Alicja A ; Dannheim, Katelyn ; Cheung, Leonard ; Agrawal, Pankaj B ; Hirschhorn, Joel N ; Zeitler, Phillip ; LeDuc, Charles A ; Stratigopoulos, George ; Thaker, Vidhu V

Journal of medical genetics, 2022-12, Vol.59 (12), p.1171-1178 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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6
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
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WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Hu, Kun ; Zatyka, Malgorzata ; Astuti, Dewi ; Beer, Nicola ; Dias, Renuka P ; Kulkarni, Archana ; Ainsworth, John ; Wright, Benjamin ; Majander, Anna ; Yu-Wai-Man, Patrick ; Williams, Denise ; Barrett, Timothy

Journal of medical genetics, 2022-01, Vol.59 (1), p.65-74 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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7
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
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WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Hu, Kun ; Zatyka, Malgorzata ; Astuti, Dewi ; Beer, Nicola ; Dias, Renuka P ; Kulkarni, Archana ; Ainsworth, John ; Wright, Benjamin ; Majander, Anna ; Yu-Wai-Man, Patrick ; Williams, Denise ; Barrett, Timothy

http://dx.doi.org/10.1136/jmedgenet-2020-107257 2022-01

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8
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function
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A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function

Al-deri, Noraldin ; Okur, Volkan ; Ahimaz, Priyanka ; Milev, Miroslav ; Valivullah, Zaheer ; Hagen, Jacob ; Sheng, Yufeng ; Chung, Wendy ; Sacher, Michael ; Ganapathi, Mythily

Journal of medical genetics, 2021-09, Vol.58 (9), p.592-601 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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9
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
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20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

Durmaz, Burak ; Bolat, Hilmi ; Cengisiz, Zehra ; Akercan, Fuat ; Sözen Türk, Tuba ; Parıltay, Erhan ; Solmaz, Aslı Ece ; Kazandı, Mert ; Karaca, Emin ; Durmaz, Asude ; Aykut, Ayça ; Sağol, Sermet ; Akın, Haluk ; Özkınay, Ferda ; Çoğulu, ÖzgÜr

TURKISH JOURNAL OF MEDICAL SCIENCES, 2021-08, Vol.51 (4), p.1775-1780 [Periódico revisado por pares]

Turkey: The Scientific and Technological Research Council of Turkey

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10
Growth hormone excess in neurofibromatosis 1
Growth hormone excess in neurofibromatosis 1
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Growth hormone excess in neurofibromatosis 1

Hannah-Shmouni, Fady ; Stratakis, Constantine A

Genetics in medicine, 2019-05, Vol.21 (5), p.1254-1255 [Periódico revisado por pares]

United States: Elsevier Limited

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