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1
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Schmitz-Abe, Klaus ; Li, Qifei ; Rosen, Samantha M ; Nori, Neeharika ; Madden, Jill A ; Genetti, Casie A ; Wojcik, Monica H ; Ponnaluri, Sadhana ; Gubbels, Cynthia S ; Picker, Jonathan D ; O'Donnell-Luria, Anne H ; Yu, Timothy W ; Bodamer, Olaf ; Brownstein, Catherine A ; Beggs, Alan H ; Agrawal, Pankaj B

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1398-1405 [Periódico revisado por pares]

England: Nature Publishing Group

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2
A genome-wide association study for age-related hearing impairment in the Saami
A genome-wide association study for age-related hearing impairment in the Saami
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A genome-wide association study for age-related hearing impairment in the Saami

VAN LAER, Lut ; HUYGHE, Jeroen R ; HUENTELMAN, Matthew J ; VAN CAMP, Guy ; HANNULA, Samuli ; VAN EYKEN, Els ; STEPHAN, Dietrich A ; MÄKI-TORKKO, Elina ; AIKIO, Pekka ; FRANSEN, Erik ; LYSHOLM-BERNACCHI, Alana ; SORRI, Martti

European journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.685-693 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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3
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Yamoto, Kaori ; Saitsu, Hirotomo ; Nishimura, Gen ; Kosaki, Rika ; Takayama, Shinichiro ; Haga, Nobuhiko ; Tonoki, Hidefumi ; Okumura, Akihisa ; Horii, Emiko ; Okamoto, Nobuhiko ; Suzumura, Hiroshi ; Ikegawa, Shiro ; Kato, Fumiko ; Fujisawa, Yasuko ; Nagata, Eiko ; Takada, Shuji ; Fukami, Maki ; Ogata, Tsutomu

European journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1845-1857 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia ; Heinze, Anja ; Roser, Timo ; Koch-Hogrebe, Margarete ; Roosendaal, Stefan D ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Torti, Erin ; Houlden, Henry ; Maroofian, Reza ; Rajabi, Farrah ; Sticht, Heinrich ; Baas, Frank ; Wieczorek, Dagmar ; Jamra, Rami Abou

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.411-421 [Periódico revisado por pares]

England: Nature Publishing Group

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5
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
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The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

de Oliveira, Jarbas Maciel ; Zurro, Nuria Bengala ; Coelho, Antonio Victor Campos ; Caraciolo, Marcel Pinheiro ; de Alexandre, Rodrigo Bertollo ; Cervato, Murilo Castro ; Minillo, Renata Moldenhauer ; de Vasconcelos Carvalho Neto, George ; Grivicich, Ivana ; Oliveira, João Bosco

European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.818-823 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum
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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

Zhou, Xiaolong ; Khan, Sikandar G ; Tamura, Deborah ; Ueda, Takahiro ; Boyle, Jennifer ; Compe, Emmanuel ; Egly, Jean-Marc ; DiGiovanna, John J ; Kraemer, Kenneth H

European journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.831-837 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Clinical variability in calpainopathy: what makes the difference?
Clinical variability in calpainopathy: what makes the difference?
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Clinical variability in calpainopathy: what makes the difference?

de Paula, Flávia ; Vainzof, Mariz ; Passos-Bueno, Maria Rita ; de Cássia M Pavanello, Rita ; Matioli, Sergio Russo ; V B Anderson, Louise ; Nigro, Vincenzo ; Zatz, Mayana

European journal of human genetics : EJHG, 2002-12, Vol.10 (12), p.825-832 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
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Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

DE PAULA, Flavia ; VIEIRA, Natassia ; STARLING, Alessandra ; YAMAMOTO, Lydia Uraco ; LIMA, Bruno ; DE CASSIA PAVANELLO, Rita ; VAINZOF, Mariz ; NIGRO, Vincenzo ; ZATZ, Mayana

European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.923-930 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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